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What is Sickle Cell Disease?
Sickle cell anemia is an inherited red blood cell disorder in which sufficient healthy red blood cells or Hemoglobin is not available to carry oxygen throughout your body. Normally, the red blood cells are usually round and move easily through blood vessels. In sickle cell anemia, the red blood is shaped like sickles or crescent moons making them look like a sickle. These rigid, sticky cells can block the small blood vessels which can slow the blood flow and oxygen to parts of the body.
Sickle cell disease affects red blood cells. People with SCD have defective hemoglobin which is the oxygen-carrying component of red blood cells. People with SCD normally have a shortage of red blood cells. Sickle cell disease is a restriction in blood flow and can cause pain, anemia, blood clots, low oxygen supply to tissues, death.
Red blood cells usually live for about 120 days and then die but in sickle cell anemia it usually dies in 10 to 20 days. Therefore bone marrow can’t make new red blood cells fast enough to replace the dying ones and it leaves a shortage of red blood cells.
What are the Causes of Sickle Cell Disease?
Sickle cell anemia is a genetic condition.
- A person who has sickle cell disease from birth has inherited two genes one from the mother and one from the father.
- A person who inherits just one gene is considered healthy but he is a “carrier” of the disease who passes the genes to his offspring. This is known as sickle cell trait (SCT).
What are the types of sickle cell disease?
Hemoglobin is a protein in red blood cells which carries oxygen. In General, hemoglobin has two alpha chains and two beta chains. There are four main types of sickle cell anemia which are caused by different mutations in these genes.
- Hemoglobin SS disease occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS, and a person with this form experience the worst symptoms at a higher rate.
- Hemoglobin SC disease is the second most common type of sickle cell disease and occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other.
- Hemoglobin SB+ (beta) thalassemia occurs when you inherit Hb S gene and it affects beta-globin gene production. When the size of the red blood cell is reduced, less beta protein is made.
- Hemoglobin SB 0 (Beta-zero) thalassemia – This occurs when you inherit the beta-globin gene and it is has a poor prognosis.
- Hemoglobin SD, hemoglobin SE, and hemoglobin SO – These types of sickle cell disease are rare and they do not have severe symptoms.
- Sickle cell trait – People who only inherit a single mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms.
What are the Symptoms of Sickle Cell Disease?
The Signs and symptoms of sickle cell anemia appear from the fifth month of birth. The symptoms can vary from person to person and change over time. Signs and symptoms include the following:
- Anemia – Red blood cells usually live for about 120 days but sickle cells usually die in 10 to 20 days. Therefore it leaves a shortage of red blood cells (anemia).
- Episodes of pain – Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Pain also occurs in your bones and the pain varies in intensity and can last for a few hours to a few weeks.
- Swelling of hands and feet.
- Delayed growth or puberty
- Vision problems – Tiny blood vessels that supply your eyes can become blocked with sickle cells. This can damage the retina and lead to vision problems.
What are the complications of a sickle cell anemia disease?
- Stroke – Sickle cells can block blood flow to an area of your brain that can cause seizures, sudden speech difficulties, loss of consciousness and can be fatal.
- Acute chest syndrome – sickle cells blocking blood vessels in your lungs can cause chest pain and difficulty breathing.
- Pulmonary hypertension – People with sickle cell anemia can develop high blood pressure in their lungs causing Shortness of breath and can be fatal.
- Organ damage – Sickle cells that block blood flow to organs can damage nerves and organs, including your kidneys, liver and spleen and can be fatal.
- Blindness – Sickle cells can block tiny blood vessels in your eyes which can damage your eye and lead to blindness.
- Leg ulcers
- Gallstones – The breakdown of red blood cells produces a substance called bilirubin and a high level of bilirubin in your body will lead to gallstones.
- Priapism – Sickle cells can block the blood vessels in the penis and can lead to impotence over time.
- Pregnancy complications – Sickle cell anemia can increase the risk of blood clots and high BP during pregnancy and can also increase the risk of miscarriage, premature birth and having low birth weight babies.
- Jaundice – The rapid breakdown of red blood cells will cause yellowing of the eyes and skin, which are signs of jaundice.
- Heart disease and chest syndrome –SCD interferes with blood oxygen supply and it can cause heart problems which lead to heart attacks, heart failure, and abnormal heart rhythms.
- Lung disease – Decreased blood flow results in high blood pressure in the lungs (pulmonary hypertension) and scarring of the lungs (pulmonary fibrosis). Lung damage makes it difficult for the lungs to transfer oxygen into the blood, which can lead to frequent sickle cell crises.
- Sickle chest syndrome – It is a severe type of sickle cell crisis and it causes severe chest pain associated with symptoms such as cough, fever, sputum production, shortness of breath, and low blood oxygen levels.
How can you relieve the symptoms and complications of sickle cell disease?
- You should use heating pads for pain relief.
- You should take folic acid supplements (As per your doctor’s recommendation).
- You should eat an adequate amount of fruits, vegetables, and whole-wheat grains. When you do that your body can make more RBCs.
- Drinking more water will reduce the chances of sickle cell.
- Exercising regularly and reducing stress can reduce the chances of sickle cell crises.
What are the treatment methods for sickle cell anemia?
- Rehydration with intravenous fluids will help red blood cells return to a normal state because if you are dehydrated, the red blood cells will deform and assume the sickle shape.
- Blood transfusions – Packed red cells are removed from donated blood and given to patients suffering from SCD.
- Supplemental oxygen – This makes breathing easier and improves the oxygen levels in the blood.
- Pain medication is used to relieve the pain during sickle cell crises.
- Immunizations can help prevent infections. Patients tend to have lower immunity.
Bone Marrow Treatment (BMT) is the only proven effective treatment which cures Sickle Cell Disease. This procedure usually uses a matched donor, such as a sibling, who does not have sickle cell anemia. This procedure requires a long hospital stay. After the transplant, you would be receiving medication that will help in preventing rejection of the donated stem cells.
What is the prognosis for sickle cell anemia?
People with sickle cell disease have a reduced life expectancy. However, new treatments for SCD are improving life expectancy and quality of life. People with sickle cell disease can survive beyond their 50s by using management methods for SCD. Regularly following up with a doctor and being aware of any new or unusual symptoms are some ways to avoid complications that could affect your prognosis.
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