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Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Asian Indian ancestry. There is also a growing segment in the Latino-American population particularly those of Caribbean, Central American, and South American ancestry. In the United States one out of every 400 births has this disease. The most common type of sickle cell disease is sickle cell anemia. In our companion article “Understanding Sickle Cell Disease” we cover a lot of material about the cause and symptoms of this disease. The following paragraph is a very brief overview.

All types of sickle cell disease are caused by a genetic change in the hemoglobin portion of the red blood cell. Hemoglobin is the oxygen-carrying protein inside the red blood cell. Normal red blood cells are oval and flexible. Red blood cells in sickle cell disease have a tendency to reshape themselves into rod-like structures that resemble the curved blade of a sickle; thus, the term sickle cell. Sickle cells have a shorter life span than normal red blood cells. This results in chronic anemia and reduced oxygen to the tissues of the body. In addition, sickle cells are less flexible than normal red blood cells. This presents a problem since they can become trapped in the small blood vessels preventing blood flow to the body’s tissues. This compromise in the delivery of oxygen to the tissues results in pain and potential damage to the associated tissues and organs.

Recent Research Highlights the Importance of Nitric Oxide!

Researchers at Duke University and Howard Hughes Medical Institute recently discovered one of the keys to the cause of pain in sickle cell disease. Their findings were reported in the January 31, 2005. Proceedings of the National Academy of Sciences. Their research showed that when normal red blood cells move through the arteries they release a signaling molecule that tells the arterial walls to expand. The signaling molecule is nitric oxide. Nitric oxide causes the smooth muscle in the blood vessel wall to relax which opens up the vessel to allow the cells to pass through.

For those with sickle cell anemia, when the red blood cells are distorted into the sickle cell shape, the researchers at Duke University discovered that the walls of the arteries don’t expand. This distorted shape of the sickle cells, combined with the fact that they tend to clump together, ends up blocking blood flow through these small arteries and capillaries. The Duke researchers noted that as the blood pulses, the walls of the arteries didn’t expand like they do with normal red blood cells.

Their research also noted that the degree of nitric oxide deficiency directly correlated with symptom severity. This means that the less nitric oxide produced the greater the pain. This Duke/HHMI study found that when nitric oxide was administered to people with sickle cell anemia their symptoms were relieved. One of the conclusions from this study was that abnormal nitric oxide processing may be the real cause of sickle cell circulatory restrictions. In addition to the Duke/HHMI study, several other studies found that the administration of nitric oxide to people with sickle cell anemia relieved symptoms.

In 1998 the Nobel Prize in Medicine was award to the researchers in nitric oxide. Part of what came out of their research was that the primary pathway for creating nitric oxide in the body came from an essential amino acid called L-arginine. L-arginine is called an essential amino acid because your body cannot produce it so it must be brought into your body through your diet. L-arginine is found in foods like milk, cheese, yogurt, meat, and other proteins.

The world’s leading researcher in L-arginine is Dr. Ann de wees Allen. Dr. Allen has over 20 years of experience with L-arginine and her research has led to some breakthrough discoveries that center on the remarkable properties of L-arginine. In fact, L-arginine is considered one of the most important neutraceuticals ever developed and is referred to by scientists as the Miracle Molecule. Columbia University refers to L-arginine as the “MAGIC BULLET” for the cardiovascular system.

To be effective and safe, L-arginine must utilize a low-glycemic method. Through much research and development, Dr. Allen determined that an L-arginine molecule attached to a kiwi glycoside (from the Kiwi plant) will create the formulation that allows L-arginine to cross the proper barriers as well as allow it to be taken orally without the taste buds rejecting it. Dr. Allen formulated a product called ProArgi-9 that was granted patent #6,608,109. With this patent the FDA and FTC allowed Dr. Allen to make 15 legal claims for ProArgi-9, and legal claim #14 is “help produce Nitric Oxide.”

Two prominent researchers became aware of Dr. Allen’s work and product. Dr. Clair Francomano (former Chief of the Medical Genetics Branch at the National Institutes of Medicine, National Genome Research Institute, and Chief of Human Genetics for the Laboratory of Genetics at the National Institute on Aging) and Dr. Randall Maxey (renowned U.S. cardiologist and President, National Medical Association Research Foundation for Ethnic-Related Diseases) approached Dr. Allen regarding her patented delivery system for L-arginine and its ability to create nitric oxide safely and effectively in the human body. Because of their experience and research in genetics they were aware on an additional genetic polymorphism common to the African-American community. Many African-Americans produce too much of an enzyme called arginase. In the bloodstream, arginase destroys L-arginine so that it is no longer available for the production of nitric oxide.

With the help of Dr. Clair Francomano and Dr. Randall Maxey, Dr. Allen was able to genetically engineer a low-glycemic delivery system for L-arginine specifically designed for the African-American community. This product is call ENCODE. It is designed to help provide the body with a high level and quality of L-arginine so that proper production of nitric oxide can be achieved with the resulting health benefits that can come from nitric oxide.

14 Steps to Help Those With Sickle Cell Disease!
Understanding the past and most current research will help to chart a plan of action to help those who suffer from sickle cell disease. Please remember that these steps are for informational purposes only and is not a substitute for professional medical advice, examination, diagnosis, or treatment. Always seek the advice of a physician or other qualified healthcare provider with any questions you may have regarding this or any medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this article. If you think you may have a medical emergency, always call your doctor or 911 immediately.

Step 1 – Proper hydration: It is estimated that 75% of Americans have mild, chronic dehydration. This will affect blood flow so getting the proper amount of water on a daily basis is critically important. It must be pure water. Pop, coffee, diet soda, alcohol, or other doctored beverages to not count. Your body must replace 2-3 quarts of water everyday. As a rule of thumb, for every 15 lbs of weight, you need 8 ounces (1 cup) of water.

Step 2 – Stay warm: Cold reduces blood flow because capillaries constrict. If you live in a cold environment, then take extra precaution to keep your extremities, especially fingers and toes, properly protected.

Step 3 – Avoid high altitudes: Geographic locations with high elevations should be avoided due to the reduce level of oxygen in the atmosphere.

Step 4 – Exercise: Intense exercise should be avoided but mild to moderate aerobic exercise can be a benefit. Exercise improves blood flow and can produce collateral capillary beds that can aid in providing alternative pathways for blood flow when an arterial pathway becomes blocked. Before starting an exercise program, you should always consult your physician.

Step 5 – L-arginine supplementation: The body utilizes L-arginine to create nitric oxide which is necessary for the proper function of the cardiovascular system especially in the control of the elasticity of the arterial walls. Now, before you go out and start buying L-arginine supplements you need to be aware of the dark side of this amino acid. L-arginine ingested in its pure form tastes terrible and will simply go into the stomach, move into the intestinal tract and then into the gut, negating most of its benefits. There is only one way for L-arginine supplement to be safe and effective and that is in a powder form with a specific glycoside rider. By itself, L-arginine can have some serious side effects like: increasing free-radical brain damage, activation of the herpes simplex virus and reduced sperm motility. This is why L-arginine is also called the “double-edged sword.” Because L-arginine is a blind amino acid it must be attached to a rider to properly direct it to the area of the body where it will have an impact. This rider must use a low-glycemic method.

Step 6 – Organic germanium: Organic germanium was first synthesized 20 years ago. It is a trace mineral that helps support the immune system. Its many beneficial attributes include oxygen enrichment, free-radical scavenging, and heavy-metal detoxification. Organic germanium is also known to be a rejuvenator and aid in increasing stamina, endurance, energy, and heart muscle tone. Toxicological studies have documented its rapid absorption and elimination from the body. But, as a precaution, you should discuss this with both your physician and pharmacist especially if you are on any type of medication.

Step 7 – Rest: It is important to get adequate rest since stress can have a negative effect on your overall health and wellness as well as lower your immune system.

Step 8 – Support your immune system: There is so much that could be said in this area. Increasing your consumption of antioxidant rich fruits and vegetables would be an important first step. Daily consumption of at least 500 mg of vitamin C would help both the immune system and liver function.

Step 9 – Support your liver: Again, there is much that could be said in this area. Adequate amounts of green leafy vegetables with proper water intake are two good first steps to help the liver. Taking 500 mg of vitamin C will help increase the rate of synthesis of glutathione which is a major component in liver detoxification.

Step 10 – Avoid people with colds and flu: Try not to place yourself in situations that allow for infections to occur. This may require you to use a mask at times if your work or school environment is compromised with illness issues.

Step 11 – Immunizations: Stay up-to-date with the proper immunizations needed. Work with your health care provider to set up a schedule so that all the proper steps are taken to stay on top of this area.

Step 12 – Folic acid supplementation: Folic acid is a necessary component for the production of red blood cells. The recommended daily amount for adults is 400 micrograms and 600 micrograms in pregnancy. If you are thinking about taking a larger amount, then you should discuss this with both your physician and pharmacist.

Step 13 – Support groups: Because of the emotional challenges of this disease it always helps to find a support group to share frustrations, challenges, hopes, and successes.

Step 14 – Family planning: Due to the genetic nature of sickle cell disease, it is always helpful to discuss options with a family practitioner who has experience in genetic counseling.

Because of the genetic nature of sickle cell disease there is no pill to cure it. This can leave individuals and family members feeling helpless in their battle against the symptoms of this disease. Discuss these 14 steps with a qualified physician to develop a plan of action that will help to empower you to have better control over sickle cell disease.

The disease commonly known as Sickle-Cell Anemia (SCA) affects many around the world. It is possible that the disease may start early at the age of five to six months. Some of the drastic side effects of this disease that become apparent include acute pain, anemia, chronic infections, and sometimes stroke. The sickle-cell trait is identified to be extensive, reaching its highest predominance in parts of Africa and Saudi Arabia where the prevention management of sickle cell disease has been carried out aggressively. World Sickle Cell Awareness Day is conducted on 19th June of every year.

There are many programs around the world to control this disease. Prevention is done through sickle-cell screening and genetic counseling for contaminated regions. Researchers say that the disease can be identified even before birth.

Surveillance and research are important components of the program where the information generated should be disseminated and used as evidence in policy-making as well as in day-to-day decision-making in the management of the programs. Partnerships should be fostered between health professionals, parents, patients, relevant community interest groups, and the media. These partnerships will facilitate civic learning and identification of genetic risks in the community by making it easier to record family disease history, raise more awareness, and actively participate in prevention care programs.

The following are some of the general ways to raise awareness for sickle cell disease:

• Create kiosks in order to share knowledge and help people utilize the opportunity to gain information for those in need.
• Spread the word on social media in several ways such as spreading the word through messages-“John the fight against sickle cell disease.” Those who see it in their feed may feel compelled to learn more about the cause.
• Make and post a documentary-style video on social media about the symptoms and treatments of disease.
• Start a petition to build billboards at important junctions to spread the word about the sickle cell eradication programs.
• Start campaigning and talking to friends and family about Sickle Cell Awareness Day. This would be a perfect opportunity for them to learn about the disease.
• Make pamphlets or flyers about the disease. A few different questions to answer: “How is it prevented?” and “What are some of the symptoms?” These can be given out at shopping malls, supermarkets, hospitals, and so on.
• Wear certain accessory items such as T-shirts and hats, and buy other types of merchandise such as pens, mugs, and pins. One really creative and effective way to spread awareness for the disease is to wear silicone wristbands. Any message can be printed on any given wristband, meaning that those who notice it will also see the message. These wristbands are also popular fashion accessories that can be worn by practically anyone. They are popular at any public event. They are especially useful gifts to give people at a fundraising campaign event. Wristbands bought online are fully customizable, but no matter where they come from, they often come in a variety of colors, sizes, and designs. When customizing silicone wristbands, it is possible to select special designs such as embossed, debossed, dual layer, multi colored, and swirled that aren’t seen as often in stores.

Sickle cell anemia is an inherited disease of the red blood cells that affects people from African, Mediterranean and Middle Eastern countries. In the United States, about 1,000 babies are born with the disorder each year, and 1 in 12 African-Americans possess the sickle cell trait.

How it occurs: When a person is born with one sickle cell gene from each parent, they may have a deficiency in the production of normal hemoglobin, a protein in red blood cells that carries oxygen throughout the body. With more abnormal hemoglobin, the red blood cells change from being flexible and disk-shaped to curving into a jagged crescent that resembles a sickle. Normal red blood cells can travel easily through the bloodstream, but sickle-shaped cells clump together and clog the blood vessels, affecting the delivery of oxygen and threatening the tissue in the body’s organs.

Symptoms: Some symptoms of sickle cell anemia include:

o Hypoxia: The heart must work harder to pump anemic blood, causing a rapid heart rate, fatigue, weakness, dizziness, and other complications. Hypoxia can lead not only to a risk of heart failure, but to more sickling of the blood because of further oxygen shortages.

o Jaundice: When red blood cells break down too rapidly, the liver cannot dispose of their waste products. The buildup in the bloodstream can cause skin, mucous membranes and the whites of the eyes to take on a yellowish tint. Permanent liver damage may occur.

o Pain crises: The common first sign of the disease in infants is hand-foot syndrome, causing pain and swelling in those organs. Pain can occur at all ages in the arms, legs, hips, shoulders, back, muscles, and joints, and can vary in frequency. Some episodes last a few hours while others can continue for weeks. Acute chest syndrome results in severe chest and abdominal pain as well as fever, cough, and difficulty breathing.

o Increased risk of infection: Damage to the spleen caused by a buildup of red blood cells can lower a person’s resistance to viral infections, respiratory infections such as pneumonia, and osteomyelitis, which affects the bones.

o Stunted growth and vision problems: Some children may be underweight, have short trunks, and a delay in reaching puberty. Sickle cells building up in the blood vessels to the eyes can lead to blindness.

Diagnosis and treatment: A blood test known as hemoglobin electrophoresis, performed on newborns in more than 40 US states, can detect sickle hemoglobin as well as the sickle cell trait.
No cure for sickle cell anemia has been found. Individuals rely on bed rest and painkillers for pain crises and fluids to prevent dehydration. Penicillin is given to young children to avoid infection. Blood transfusions can increase the number of normal red blood cells to prevent more serious complications. The anticancer drug hydroxyurea has alleviated pain crises and acute chest syndrome in some adults. Regular medical visits, a healthy diet, and moderate exercise can increase life expectancy and quality of life.

The clinical manifestations of sickle cell anemia vary markedly in severity and frequency. The most acute symptoms of the disease occur during periods of exacerbation called crises. There are four types of episodic crises vaso-occlusive, splenic sequestion, aplastic, and hyperhemolytic crises.

Vaso-occlussive crises are the most common and the only painful ones. They are the result of sickled cells obstructing the blood vessels, causing occlusion, ischemia, and potentially necrosis. The major symptoms of this crisis are fever, acute abdominal pain from visceral hypoxia, hand-foot syndrome, and arthralgia, without an exacerbation of anemia.

Splenic sequestration crises are caused by the spleen sequestering (pooling) large quantities of blood, causing a precipitous drop in blood volume and ultimately shock. The crisis may be acute or chronic. The chronic manifestation is termed functional asplenia. The acute form occurs most commonly in children between 8 months and 5 years of age and may result in death from profound anemia and cardiovascular collapse.

Aplastic crisis is diminished red blood cell production, usually triggered by a viral or other infection. When superimposed on the existing rapid destruction of red blood cells, a profound anemia results.

Another type of bone marrow crisis is megaloblastic anemia, which is attributed to an excess nutritional need for folic acid/ or vitamin B12 during periods of pronounced erythropoiesis. Since infection is not always antecedent to aplastic or hypoplastic crises, it is possible that folic acid deficiency is a causative agent.

Hyperhemolytic crisis occurs when there is an even greater rate of red blood cell destruction. It is characterized by anemia, jaundice, and reticulocytosis. It is a rare complication and frequently suggests other coexisting abnormalities, such as glucose-6-phosphate dehydrogenase deficiency, which is also common in black persons.

Diagnostic evaluation
Although sickle cell anemia has been reported during the neonatal period and early part of infancy, it may not be recognized until the toddler and preschool period. It is frequently first diagnosed during a crisis, after an acute upper respiratory or gastrointestinal infection. Crisis, after an acute upper respiratory or gastrointestinal infection.

Several tests are available for detecting sickle cell anemia. Although most of the routine hematological tests described are done primarily to evaluated the anemia, this discussion focuses on the four tests specifically used to detect the homozygous or heterozygous for of the disease. For screening purposes either the sickling test of the sickledex is commonly used. If the test is positive, hemoglobin electrophoresis is necessary to distinguish between those children with the trait and those with the disease. Screening for sickle cell trait has become a controversial subject, especially among the black community, since there is no method of preventing the disease other than selective birth procedures.

Stained blood smear
Examination of the stained smear of blood may reveal a few sickled red blood cells. However, since the erythrocyte assumes its normal discoid shape under adequate oxygenation, non-sickled cells may be present even in the homozygous form of the disease. Whenever sickle cells are found, the diagnosis is usually positive for sickle cell anemia, not sickle cell trait.

Sickling test (sickle cell slide preparation)
The simplest method to detect sickling is to place a drop of blood on a slide and cover it with a sealed cover slip to produce de-oxygenation. Eventually sickling of the red blood cell occurs. Unfortunately this test may take several hours before results are obtained, and it is not specific for the disease or trait. False negatives for the trait can occur if the blood contains a very small amount of hemoglobin S.

Hemoglobin electrophoresis (“fingerprinting”)
In this test, the blood is specially prepared and separated into various hemoglobin by high-voltage electrophoresis. The resulting pattern of the separated peptides as it appears on paper is referred to as “fingerprinting” of the protein.

When Adrienne Shapiro’s daughter Marissa was diagnosed with sickle cell disease, the doctors said that she would not live till her first birthday. However, when Marissa managed to live past that benchmark, it did not mean the end of Adrienne’s worries. In fact, it was the beginning of many painful years of blood transfusions and immunological disorders. When an improperly matched blood transfusion caused a severe reaction leading to the removal of Marissa’s gall bladder and temporary kidney failure, she was unable to receive further blood transfusions.

However, luckily for Marissa a project sponsored by the California Institute for Regenerative Medicine (CIRM), headed by Don Kohn, MD at UCLA, was starting a clinical trial. The objective of the project was ‘to remove bone marrow from the patient and fix the genetic defect in the blood-forming stem cells. Then those cells can be reintroduced into the patient to create a new, healthy blood system.’The success of this clinical trial has given hope to Adrienne that with the help regenerative medicine her daughter will be able to lead a healthy and pain-free life.

The Stem Cell & Regenerative Medicine Center at the University of Wisconsin-Madison describes ‘Regenerative Medicine’ as ‘a new scientific and medical discipline focused on harnessing the power of stem cells and the body’s own regenerative capabilities to restore function to damaged cells, tissues and organs.’

Stem cells that are found in the umbilical cord blood of new born children have the ability to renew and regenerate themselves. A stem cell, through the process of mitosis, can divide itself to either become a specialized cell like a brain cell or muscle cell, or remain a stem cell. They are also able to repair internal damage caused by any type of disease, disorder or trauma. Stem cell transplantation, stem cell grafting and regenerative medicine are some of the ways in which these cells are used to cure disorders and illnesses.

Regenerative medicine includes a wide range of scientific disciplines, such as biochemistry, genetics, molecular biology and immunology. Scientists from these fields have been conducting research and studies in this domain and have identified three methods of using regenerative medicine. They are cellular therapies, tissue engineering and medical devices and artificial organs.

Cellular Therapies – In this method, cellular materials, in most cases adult stem cells, are extracted and stored and then injected into the site of injury, tissue damage or disease. These cells, thereafter, repair the damaged cells or regenerate new cells to replace the damaged ones.

Tissue Engineering – This method is related to the field of biomaterials development and utilizes a combination of functioning tissues, cells and scaffolds to engineer a fully functioning organ which is then implanted into the body of the receiver in place of a damaged organ or tissue.

Medical Devices and Artificial Organs – When a body organ fails, the most common method of treatment is to replace it with a donor organ. Donor organs are not easily available and can pose as a hindrance in such cases. Even if a donor is available, he or she may need to take immunosuppressant drugs before the transplant and these drugs have been known to cause side-effects. In such circumstances, medical devices that imitate the function of the failed organ can be used, instead of transplantation. An example of one such device is the ventricular assist device (VAD) that is used in place of heart transplants.

Since regenerative medicine deals with the use of stem cells, it occasionally requires embryonic stem cells for research purposes. This use of embryonic stem cells can often give rise to questions regarding ethics and legality. The laws and regulations concerning regenerative medicine are different in different countries. Creation of human embryos for research is only legally permitted in three countries. Majority of the countries only allow extraction of cells from surplus IVF embryos. A recent study, related to human embryonic stem cells (hECS) research policy, was conducted which revealed that UK, Sweden and Belgium were very permissive in authorizing the creation of human embryos for research, whereas, Luxembourg, Austria, Poland and Ireland had no laws regarding hECS. The legislations regarding hESC in most other countries range between being mildly restrictive to very restrictive.

New Developments – in Sickle Cell management

There are some interesting new developments most of which are related to management of the illness rather than a cure. A cure may be some way in the future but right now managing the condition is the best we can hope for.

· Antioxidants – there is a growing body of evidence that suggests that plant based phytochemicals – small antioxidant molecules – can help enormously when faced with the ongoing death of red blood cells and the resultant stress that this causes on the body. Please note that we are not talking about vitamins and minerals – they are important but quite different molecules.

· Water – most people don’t realise that just being 5% dehydrated can dramatically decrease the fluidity of the blood. The body will take water from the blood to sustain other critical functions and this leads to the blood being thicker and more prone to higher blood pressure and sickle cells clumping together. Drink water in preference to anything else, 2 to 3 litres per day is the accepted norm and more if you are under stress. Try to use properly filtered water but not reverse osmosis – this is acidic and quite harmful. We only recommend one type of filtered water and as it’s portable is the ideal solution for today’s busy lifestyle.

· L-Arginine – there has been some research into nitric oxide as a vasodilator – it makes the blood vessels dilate. L-Arginine is a food (actually an amino acid) that in the right conditions can be turned into Nitric Oxide which the body uses to dilate the blood vessels. For someone with sickle cell and pain this is absolutely critical and a great help. It works within 15 minutes normally. Again we can recommend a supplier.

· Glyconutrients – there is a small but very significant number of people around the world who are seeing very significant improvements with pain management, immune system function and general well being that seems to coincide with the introduction of these newly understood biochemically active sugars. There is some evidence that these compounds support the body’s own ability to produce stem cells in the bone marrow – this would line up with the research being done in Georgia on stem cell transplant but which is hindered by lack of suitable donors. An autonomic stem cell transplant or even growth has not been studied but is an area worthy of further investigation. We only recommend one supplier as we have only seen repeatable results with one product. There are others out there but they are unproven and in some cases ineffective.

· Vitamins and Minerals – these vital molecules support normal physiology and are vital to health. However, synthetic vitamins and ground up rock does not convey the benefits that we are looking for. The best vitamins and minerals are pre digested minerals and plant sourced vitamins in a food matrix. We can recommend the best suppliers. Folic acid is already well known and should be continued.

· Gastrointestinal Support – the digestive system in sufferers of sickle cell are increasingly compromised and as the GI tract is the front line of the immune system and contributes 70% of its effectiveness it is no surprise that this is an area where there are enormous potential benefits. The use of good Probiotics and digestive enzymes can benefit the sufferer enormously. Once again we have preferred suppliers who have give the best results.

· Pain Management – this is an area where we have to come clean and admit that we don’t really understand the results we have seen. Based upon real people we have seen repeatable results with a child’s chewable immune support product mitigating the acute pain experienced by every sufferer daily within 15 minutes. We have our ideas on what is giving the almost instant result but we are don’t know.

· Reducing dependence on Antibiotics – we have seen all ages who have a history of long term use of antibiotics benefit enormously from the use of the above techniques. Many people have been able to reduce or even eliminate daily use of antibiotics.

· Longer term developmental issues – it is too early to suggest that long term use of glyconutrients will normalise and restore the development of children with sickle cell. However, it is clear already that the earlier you adopt a clear strategy based upon the above ideas that a more normal developmental process may prevail. In simple words – the sooner you start your child on this course the better the results long term.

For the African-American community, sickle cell disease is a major health issue. Sickle cell disease can also affect Mediterranean, Middle Eastern, and Asian Indian ancestry, and there is a growing segment in the Latino-American population particularly those of Caribbean, Central American, and South American ancestry. In the United States one out of every 400 births has this disease. The most common type of sickle cell disease is sickle cell anemia.

Definition and Description of Sickle Cell Disease

Sickle cell disease is a group of inherited blood disorders that center on red blood cells which can function abnormally resulting in small blood clots, chronic anemia, painful events, and potential complications associated with tissue and organ damage. These blood disorders include sickle cell anemia, Mediterranean blood disease, the sickle beta thalassemia syndromes, and hemoglobinopathies in which the sickle cell hemoglobin is in association with other abnormal hemoglobin in sufficient concentration to cause the red blood cell to sickle.

All types of sickle cell disease are caused by a genetic change in the hemoglobin portion of the red blood cell. Hemoglobin is the oxygen-carrying protein inside the red blood cell. Normal red blood cells are oval and flexible. Red blood cells in sickle cell disease have a tendency to reshape themselves into rod-like structures that resemble the curved blade of a sickle; thus, the term sickle cell. Sickle cells have a shorter life span than normal red blood cells. This results in chronic anemia and reduced oxygen to the tissues of the body. Sickle cells are less flexible and more sticky than normal red blood cells. This presents a problem since they can become trapped in the small blood vessels preventing blood flow to the body’s tissues. This compromise in the delivery of oxygen to the tissues results in pain and potential damage to the associated tissues and organs.

Carriers of the sickle cell gene are referred to as having sickle cell trait. Most of the time sickle cell trait does not cause health problems. In fact, sickle cell trait can be beneficial because it provides protection against malaria, a disease caused by blood-borne parasites transmitted through mosquito bites. It is estimated that one in 12 African-Americans has sickle cell trait.

The Cause of Sickle Cell Disease!

The hemoglobin molecule of a red blood cell is made up of three components: heme, alpha or alpha-like globin, and beta or beta-like globin. Sickle cells contain a genetic change in the beta globin component of the hemoglobin molecule. This is caused by a change in the genetic coding on chromosome 11. One small change in a single DNA nucleotide results in a different amino acid being inserted into the beta globin protein of the hemoglobin molecule resulting in the unique properties of sickle cells. For simplicity we will call this altered gene the “sickle cell gene” and the regular gene the “normal red blood cell gene.”

For most individuals, they have two copies of the “normal red blood cell gene” to produce normal beta globin resulting in typical red blood cells. Individuals with sickle cell trait have one “normal red blood cell gene” and one “sickle cell gene” so they produce both normal red blood cells and sickle cells in roughly equal proportions. Because of this they do not usually experience significant health problems as a result of having sickle cell trait. Those with sickle cell anemia have two “sickle cell genes.”

Genetics plays a significant role in both the disease, symptoms, and in family planning. If both members of a couple have sickle cell trait then there is a 25% chance in each pregnancy for the baby to inherit two sickle cell genes and the resulting child will have sickle cell anemia. Correspondingly, there is a 50% chance the baby will have sickle cell trait and a 25% chance that the baby will have the “normal red blood cell genes”. If both members of a couple have sickle cell anemia then the baby will have sickle cell anemia 100% of the time. If one member of the couple has sickle cell anemia and the other has both “normal red blood cell genes”, then the resulting child will have sickle cell trait 100% of the time. Finally, if one member of the couple has sickle cell trait and the other has both “normal red blood cell genes”, then the resulting child has a 50% chance of have normal red blood cell hemoglobin or a 50% chance of having sickle cell trait.

The Need for Oxygen!

Oxygen is necessary for life and the optimal function of all cells. Red blood cells transport oxygen from the lungs to the tissues throughout your body. It is the hemoglobin molecule that binds oxygen to itself in the lungs and then releases oxygen to the tissues for proper cell respiration. However, once the oxygen is released by the sickle cell hemoglobin it can cause the red blood cell to alter its normal oval shape into the rigid, sickle shape characteristic of sickle cells. Low oxygen can be a trigger for this change. Studies also seem to indicate that cold temperatures and dehydration can be factors in triggering this change.

Normal red blood cells can survive for approximately 120 days where as sickle cells typically last 10-12 days. This is an important factor because it leaves the bloodstream chronically short of red blood cells and hemoglobin which leads to anemia. This creates its own shortage of oxygen which could trigger a shape change in the red blood cell to the sickle shape. This rigid, sickle shape does not allow the sickle cell to fit well through small blood vessels. In addition, there are altered chemical properties that develop which increases the cells’ “stickiness”. That is why sickle cells tend to adhere to the inside surfaces of small blood vessels and other blood cells resulting in blockages in these blood vessels. These blockages prevent oxygenated blood from reaching tissue areas resulting in pain and possibly organ and tissue damage if kept without oxygen long enough.

Common symptoms include the following:

o Bloody urine, frequent urination

o Bone and/or abdominal pain, chest pain

o Delayed growth and puberty

o Excessive thirst

o Fatigue, breathlessness, rapid heart rate

o Increased susceptibility to infections, fever

o Pain which can vary from moderate to intense

o Paleness, yellow eyes and/or skin, jaundice

o Poor eyesight or blindness

o Ulcers on the lower legs usually in adolescents and adults

The severity of symptoms varies widely and cannot be predicted solely on genetic inheritance. Some with sickle cell disease develop health and life threatening problems in infancy while others only have mild symptoms throughout their lives. Others experience various degrees of health issues as they age. Certain variations of sickle cell disease tend to have less severe symptoms on average than other types of sickle cell disease.

Organs and Body Systems Affected by Sickle Cell Disease

Various organs and body systems can be effect by sickle cell disease. As you will see from this list, sickle cell disease has a wide range of effects on the body. Bottom line is that any tissue that needs oxygen and adequate blood flow can be at risk.

o Acute Chest Syndrome – Acute chest syndrome or ACS is a leading cause of death for those with sickle cell disease. It takes place in the lungs and rapid diagnosis and treatment is very important. ACS can occur at any age. It is similar to pneumonia in symptoms but distinct in its damage.

o Anemia – As we learned early, sickle cells have a life span of 10-12 days resulting in a deficiency of red blood cells in the bloodstream. It is the hemoglobin of red blood cells that carry oxygen so with this deficiency there is a reduction in oxygen to the tissues. Common symptoms of anemia include fatigue, paleness, and a shortness of breath. The heart rate will increase to try to circulate more blood to make up for the lack of oxygen to the tissues.

o Delayed Growth – Because of the short life span of sickle cells, the energy demands of the bone marrow to produce more red blood cells compete with the demands of a growing body. Children with sickle cell anemia may experience delayed growth and reach puberty at a later age. However, by early adulthood, they catch up on growth and height but may still remain below average in weight.

o Infections and the Spleen – Children under the age of three with sickle cell disease are particularly susceptible to life-threatening bacterial infections especially from Streptococcus pneumoniae. Unfortunately, 15% of these types of cases result in death. Since your spleen helps to fight bacterial infections, it is particularly vulnerable to the effects of sickle cells. It is not uncommon to see the loss of spleen function by late childhood for those with sickle cell anemia.

o Jaundice and Gallstones – Jaundice is indicated by a yellow tone in the skin and eyes due to increased levels of bilirubin which is the final product of hemoglobin degradation when red blood cells are destroyed. Bilirubin is removed from the bloodstream by the liver and elevated levels can increase the chance for gallstones.

o Joint Problems – The blood supply to the connective tissue, especially in the hip and shoulder joints, can be blocked by the sickle cells resulting in bone damage and poor healing. This complication can affect an individual’s physical abilities and result in substantial and chronic pain.

o Kidney Disease – Kidneys are particularly prone to damage from sickle cells. Adults with sickle cell disease often experience reduce functioning of the kidneys which can progress to kidney failure.

o Painful Events – This is the hallmark symptom of sickle cell disease. The frequency and duration varies tremendously from individual to individual and over an individual’s lifetime. These painful events are also the most common cause for hospitalization. The hallmark symptom results when the small blood vessels become blocked by the sickle cells preventing oxygen from reaching the tissues. Although pain can affect any area of the body, the most frequent sites are the extremities, chest, abdomen, and bones.

o Priapism – Only males have to deal with this since it is a condition characterized by a persistent and painful erection. Blood vessels become blocked by sickle cells so that blood is trapped in the tissue of the male’s organ. It is extremely painful and can result in damage to this tissue causing impotence.

o Retinopathy – The blood vessels that support the tissue at the back of the eye may be blocked by sickle cells resulting in a condition called retinopathy. Regular ophthalmology evaluations and effective treatment can help a person avoid permanent damage to their vision.

o Stroke – This is one of the most concerning complications of sickle cell disease since approximately 11% of individuals with this disease will have a recognizable stroke by the age of 20. Typically, a stroke in a person with sickle cell disease is caused by a blockage of a brain blood vessel by the sickle cells. This results in lack of oxygen to the affected area of the brain. The consequences are far ranging from undetectable effects to apparent or subtle learning disabilities to severe physical or cognitive impairment to life-threatening.

Diagnosis and Treatment

The inheritance of sickle cell disease or sickle cell trait cannot be prevented but it can be predicted so screening is recommended. If you exhibit symptoms, then contact your physician so that accurate tests can be done to determine if you carry the “sickle cell gene” and what level of risk you are at. For newborns, more than 40 states include sickle cell screening as part of the battery of blood tests. However, don’t just assume the test is done. You must always be proactive.

Hemoglobin trait screening is always a good choice for any person of a high-risk ethnic background especially if you are considering having children. If you and your partner are found to have sickle cell or other hemoglobin traits, then you might want to receive genetic counseling to better understand the risk of sickle cell disease for your offspring and various testing options available to you.

Treatment options are intended to prevent some of the symptoms and complications of sickle cell disease. These treatment options can include:

o Access to comprehensive health care

o Adequate nutrition

o Avoiding stresses and infection

o Blood transfusions

o Bone marrow transplantation

o Getting proper rest

o Good hydration

o Hydroxyurea

o Pain management

o Proper immunizations

o Supplementation with folic acid

o Support groups

o Surgery

o Use of preventative antibiotics

As with any disease condition, you want to always work with a qualified health professional to develop a course of action that best fits your individual situation.

There is new research that shows a direct correlation between nitric oxide deficiency and symptom severity for those with sickle cell anemia. Please see our companion article “14 Steps to Help Those With Sickle Cell Disease!” This article discusses the latest research and provides 14 suggestions you can use to help those with sickle cell disease.