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Sickle Cell Anaemia: Types, Causes, Symptoms & Treatment
Boldsky | 15th Feb, 2019 04:06 PM

Sickle cell anaemia is an inherited blood disorder that causes the red blood cells to become rigid. This causes anaemia and leads to other complications. This disorder is most common among people of African, Arabian and Indian origin .

What Causes Sickle Cell Anemia?

Sickle cell anaemia is a group of disorders that affect the haemoglobin, a protein present in the red blood cells responsible for carrying oxygen to cells and organs throughout the body.

Normally, the red blood cells are round which makes it easier for them to travel even through the smallest blood vessels. But in the case of sickle cell anaemia, the blood cells are sticky and shaped like sickles. These abnormally shaped red blood cells get stuck in the small blood vessels which disrupt blood flow and oxygen flow to other parts of the body. As a result, it damages the vital organs and tissues .

The genes of the sickle cell anaemia are passed from the parents to the child. If only one parent passes the gene to the child, the child will have the sickle cell trait which means he/she will have one normal haemoglobin gene and one defective sickle cell gene . People with sickle cell trait usually don't have any symptoms, but they are the carriers of the disease.

Types Of Sickle Cell Anaemia

1. Haemoglobin SS disease occurs when the child inherits copies of the haemoglobin S gene from both the parents .

2. Haemoglobin SC disease occurs when the child inherits the Hb C gene from one parent and the Hb S gene from the other .

3. Haemoglobin SB+ (beta) thalassemia is inherited with the Hb S gene .

4. Haemoglobin SB 0 (Beta-zero) thalassemia is the fourth type of sickle cell disease which has similar symptoms to Hb SS anaemia.

5. Haemoglobin SD , haemoglobin SE and haemoglobin SO are some of the rare types of sickle cell anaemia.

6. Sickle cell trait occurs when the child inherits a mutated gene (haemoglobin S) from one parent .

Symptoms Of Sickle Cell Anaemia
  • Pain - Pain develops in the chest, abdomen and joints when the sickle-shaped red blood cells block the blood flow. The pain may last for a few hours to a few weeks.
  • Slow growth - The normal red blood cells are responsible for your body's growth by providing the right amount of oxygen and nutrients. But, when you have sickle cell anaemia, the body's growth becomes slow.
  • Fatigue - Normal red blood cells live for about 120 days before they can be replaced. But, sickle-shaped red blood cells break apart and die in 10 to 20 days, causing a shortage in red blood cells. When the body doesn't have enough red blood cells to carry oxygen, you experience fatigue or irritability.
  • Swelling in hands and feet - When you have sickle cell anaemia, you start experiencing swelling in the hands and feet due to the blockage of blood flow.
  • Eye problems - Small blood vessels that carry blood to your eyes are blocked due to sickle-shaped red blood cells. This can lead to damage to the retina and cause several eye problems.
  • Stroke - A stroke can also occur when the sickle-shaped red blood cells block the blood vessels that carry blood to the brain.
  • Infections - Sickle cells damage your organs and weaken the immune system, which makes your body more prone to infections.

Complications Of Sickle Cell Anemia

  • Heart problems occur when the sickle red blood cells disrupt the oxygen supply to the heart causing heart failure, heart attacks and abnormal heart rhythms.
  • Sickle cell anaemia causes skin ulcers in the legs.
  • Lung disease happens when the blood flow is decreased resulting in high blood pressure in the lungs (pulmonary hypertension) and scarring of the lungs (pulmonary fibrosis).
  • Hand-foot syndrome happens when sickle-shaped red blood cells block the blood vessels in the hands and feet which cause them to swell. Swollen hands and feet are the first sign of sickle cell anaemia in babies.
  • The sickle-shaped red blood cells can also lead to the transport of less oxygen to the organs like kidney, liver and spleen. The depletion of blood flow result in organ damage.
  • Neurological complications like seizure, stroke or even coma can occur due to sickle cell anemia.
  • Eye problem is another complication of sickle cell disease.
  • When the red blood cells break down producing a substance called bilirubin, it eventually leads to the formation of gallstones.
  • Sickle chest syndrome causes severe chest pain and shows symptoms like fever, cough, shortness of breath and low blood oxygen levels.
  • Priapism occurs in men with sickle cell disease, causing painful long-lasting erection.
Diagnosis Of Sickle Cell Anaemia

Diagnosis is done based on the symptoms and routine blood tests that check the presence of haemoglobin S in the blood. In children and infants, an inexpensive blood test called haemoglobin electrophoresis is done to confirm the diagnosis of the disorder. This test measures the different types of haemoglobin .

Another test is done in pregnant women to check if the unborn child has the disorder or not. Amniocentesis is a procedure in which a needle is used to take fluid from the foetus to check for the sickle cell gene .

Treatment Of Sickle Cell Anaemia
  • Stem cell transplantation is the only cure for sickle cell anaemia. However, it isn't suitable or available to many anaemia sufferers.
  • Blood transfusions can treat the disease by increasing the number of normal red blood cells and fight anaemia.
  • Rehydration with intravenous fluids aid in bringing back the red blood cells to the normal state.
  • For the oxygen depletion in the bloodstream, supplemental oxygen is given through a mask which improves oxygen levels in the blood.
  • Medications like morphine are given to ease the pain.
  • Immunization is provided for patients with lower immunity.
  • Bone marrow transplants have also been used to treat patients with the disease.
  • For people with eye problems, eye surgery can prevent further vision loss.

Regular health care is essential for people with sickle cell anaemia. Good hygiene, proper eating habits, taking plenty of rest, protecting your body against infections and avoiding stress are necessary to help deal with the condition.

Can Sickle Cell Anaemia Be Prevented?

If you have sickle cell trait and are trying to conceive, consult a genetic counsellor who will explain the risks, possible treatments, preventive methods and reproductive options.

Also, people who are carriers of the disease should make sure that their partner or spouse isn't a carrier if they are planning to have a child in the future.

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