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Sickle Cell Anemia
Sickle Cell Anaemia is an autosomal recessive inherited disease in which the shape of Red Blood Cells is abnormal. The crescent/sickle shaped RBCs are stiff and sticky unlike the normal biconcave discs. They hence tend to obstruct the flow of blood and form lumps in the vessels. These abnormal RBCs have a very low life span of only 10 – 20 days and lead to ineffective transport of oxygen in the blood.
Sickle Cell Anaemia is caused by a defect in the haemoglobin beta gene in chromosome 11. If only one mutated gene is passed on to the offspring, he is only a carrier of the disease and can live a normal life. However, if both parents carry the gene for Sickle Cell Anaemia, there is a 25% probability of the child to be affected by the disease.
The signs/symptoms of the disease include-
- Fatigue and Weakness
- Dizziness
- Constant headaches
- Pale skin
- Chest pain
- Pain crises (Sudden episodes of pain throughout the body)
- Eyesight problems
- Recurrent infections
- Neonatal jaundice
Sickle Cell Anaemia can be diagnosed before birth by Amniocentesis in which amniotic fluid from the mother’s womb is tested for chromosomal defects in the baby. Post-birth, Sickle Cell Anaemia can be diagnosed through Blood tests to check for the defective Haemoglobin S gene form and count of Red Blood Cells. Haemoglobin Electrophoresis is essential to confirm the diagnosis of the disease.
Sickle Cell Anaemia can only be treated by a Bone Marrow Transplant. The stem cells of a suitable and compatible donor, preferably closest relative, are injected in the patient. These cells differentiate and replicate to form normal Red Blood Cells and they resume normal functioning of the body. This treatment is most effective and likely to be successful in children who are less than 16 years old.
Other medications that help reduce the effect of the symptoms of Sickle Cell Anaemia include
Rehydration with fluids to help RBCs go back to their normal state and Blood Transfusion in order to meet the requirements of oxygen in the body. Immunization helps to prevent the frequent infections in the body and Pain killer medicines aid during pain crises.
A Bone Marrow Transplant entails the following risks:
- Graft-versus-Host disease - donor cells start to attack those of the recipient and hence causes immunity problems
- Graft rejection - donor stem cells do not function effectively in the recipient and fail to differentiate into blood cells.
- Thrombocytopenia and anaemia
- Infections and Bleeding
- Damage to the liver
- Delayed growth in children
- Clotting- in blood vessels
In case of a bone marrow transplant, the patient is monitored by the doctor for signs of graft rejection. A medication for GVHD is given to prevent it from occurring. Antifungals, antivirals and antibiotics are also given in order to prevent all sorts of infections. Regular blood tests are conducted in order to check if blood counts are back to normal and to check the functioning of the donor’s stem cells in the recipient. The patient may require blood transfusions in case of too much blood loss or slow recovery.
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Sickle Cell Anemia
Sickle Cell Anaemia is an autosomal recessive inherited disease in which the shape of Red Blood Cells is abnormal. The crescent/sickle shaped RBCs are stiff and sticky unlike the normal biconcave discs. They hence tend to obstruct the flow of blood and form lumps in the vessels. These abnormal RBCs have a very low life span of only 10 – 20 days and lead to ineffective transport of oxygen in the blood.
Sickle Cell Anaemia is caused by a defect in the haemoglobin beta gene in chromosome 11. If only one mutated gene is passed on to the offspring, he is only a carrier of the disease and can live a normal life. However, if both parents carry the gene for Sickle Cell Anaemia, there is a 25% probability of the child to be affected by the disease.
Symptoms
The signs/symptoms of the disease include-
- Fatigue and Weakness
- Dizziness
- Constant headaches
- Pale skin
- Chest pain
- Pain crises (Sudden episodes of pain throughout the body)
- Eyesight problems
- Recurrent infections
- Neonatal jaundice
Diagnosis
Sickle Cell Anaemia can be diagnosed before birth by Amniocentesis in which amniotic fluid from the mother’s womb is tested for chromosomal defects in the baby. Post-birth, Sickle Cell Anaemia can be diagnosed through Blood tests to check for the defective Haemoglobin S gene form and count of Red Blood Cells. Haemoglobin Electrophoresis is essential to confirm the diagnosis of the disease.
Treatment
Sickle Cell Anaemia can only be treated by a Bone Marrow Transplant. The stem cells of a suitable and compatible donor, preferably closest relative, are injected in the patient. These cells differentiate and replicate to form normal Red Blood Cells and they resume normal functioning of the body. This treatment is most effective and likely to be successful in children who are less than 16 years old.
Other medications that help reduce the effect of the symptoms of Sickle Cell Anaemia include
Rehydration with fluids to help RBCs go back to their normal state and Blood Transfusion in order to meet the requirements of oxygen in the body. Immunization helps to prevent the frequent infections in the body and Pain killer medicines aid during pain crises.
Risks
A Bone Marrow Transplant entails the following risks:
- Graft-versus-Host disease - donor cells start to attack those of the recipient and hence causes immunity problems
- Graft rejection - donor stem cells do not function effectively in the recipient and fail to differentiate into blood cells.
- Thrombocytopenia and anaemia
- Infections and Bleeding
- Damage to the liver
- Delayed growth in children
- Clotting- in blood vessels
After Procedure
In case of a bone marrow transplant, the patient is monitored by the doctor for signs of graft rejection. A medication for GVHD is given to prevent it from occurring. Antifungals, antivirals and antibiotics are also given in order to prevent all sorts of infections. Regular blood tests are conducted in order to check if blood counts are back to normal and to check the functioning of the donor’s stem cells in the recipient. The patient may require blood transfusions in case of too much blood loss or slow recovery.
FAQ Section
Sickle cell anemia is an inherited blood disorder and is characterized primarily by chronic anemia and periodic episodes of pain. The primary problem involves hemoglobin. The hemoglobin molecules, a component of the red cells in the blood, is present in each red blood cell to carry oxygen from the lungs to the body organs and tissues and return carbon dioxide to the lungs. In sickle cell anemia, the hemoglobin is defective and after the hemoglobin molecules give up their oxygen, some of them may cluster together and form long, rod-like structures. These structures cause the red blood cells to become stiff and take the shape of a sickle. Unlike normal red cells, which are usually smooth and donut-shaped, the sickled red cells cannot squeeze through tiny, blood vessels. They accumulate and cause blockages that deprive the organs and tissue of oxygen-carrying blood.
This process produces periodic episodes of pain and eventually can damage the tissues and vital organs, leading to additional, serious, medical problems. While normal red blood cells last about 120 days in the bloodstream, sickled red cells die after about 10 to 20 days. The person suffers a chronic shortage of red blood cells (Anemia) as now the red blood cells cannot be replaced fast enough.
Sickle cell anemia is the result of an error in the gene that tells the body how to make hemoglobin. The defective gene tells the body to make the abnormal hemoglobin, resulting in deformed red blood cells. Children who inherit copies of the defective gene from both parents will have sickle cell anemia, while the children who inherit the defective sickle hemoglobin gene from only one parent will not have the disease, but they will carry the sickle cell trait. Individuals with sickle cell trait generally don't show any symptoms, but they can pass the sickle hemoglobin gene on to their children.
Sickle cell trait means that a person is carrying one copy of the gene that causes sickle cell disease. Red blood cells of the person with sickle cell trait will contain some abnormal sickle hemoglobin, but most of the hemoglobin in each red blood cell will normal. This error in the hemoglobin gene results from a genetic mutation that occurred many thousands of years ago in people in parts of Africa, the Mediterranean basin, the Middle East, and the Indian subcontinent. A deadly form of malaria was very common at that time in these regions, and malaria epidemics caused the death of great numbers of people.
Studies show that in areas where malaria was a problem, children who inherited one sickle hemoglobin gene had a survival advantage. Unlike the children who had normal hemoglobin genes, these carriers of sickle cell trait survived the malaria epidemics, grew up, had their own children, and passed on the gene for sickle hemoglobin.
Hundreds of millions of individuals worldwide have sickle cell trait, and most people with sickle cell trait, although not exclusively, are of African ancestry.
Sickle cell is an inherited condition. It is passed from parents to their children and cannot be acquired in any other way.
Sickle cell trait is the result of the inheritance of one copy of the sickle gene. Sickle cell disease results from the inheritance of two abnormal, sickle-cell genes, one from each parent. Sickle cell trait is not a mild form of sickle cell disease as it is wrongly believed to be by many people.
Early diagnosis of sickle cell anemia is critical for the children who have the disease so that they can receive proper treatment.
Hemoglobin electrophoresis, the most widely used diagnostic test, an inexpensive blood test for sicklecell disease on all newborn infants. If the test shows the presence of sickle hemoglobin, a secondblood test is conducted to confirm the diagnosis. These tests also reveal whether the child carries the sickle cell trait or not.
Most people with sickle cell trait have no symptoms and will not have any health complications due to its presence in their gene. Although very rare, occasionally people with sickle cell trait can have painless hematuria. Under extreme conditions such as high severe dehydration, altitude, or very high- intensity physical activity typically associated with high temperatures, red cells can become deformed or sickled. Complications include muscle breakdown, reduced blood supply to the spleen, increased pressure in the eye (glaucoma), and also a very rare form of kidney cancer (renal medullary carcinoma) has been linked with sickle cell trait.
Sickle cell trait can affect Hispanics, Caucasians from southern Europe, South Asians, and people from Middle Eastern countries. More than a hundred million people worldwide have sickle cell trait.
No, sickle cell trait can never become sickle cell disease, and it is only possible for an individual with sickle cell trait to pass the gene to their children.
The precautions include drinking adequate amounts of fluid and taking rest and breaks as needed, especially if the activity is new or if the temperature and humidity are high. If it is an organized sports activity, there should be staff present who can recognize when a participant has an urgent need for medical attention.