World Sickle Cell Day: Know The Types, Symptoms, Causes And Treatment Of Sickle Cell Anemia

Sickle cell disease (SCD) is a group of inherited (autosomal recessive) red blood cell (RBC) disorders requiring the presence of two copies of a faulty gene. Carriers or sickle cell trait are individuals with only one copy of such a gene. Healthy RBCs are round and move through small blood vessels carrying oxygen to all parts of the body. In this disease, the RBCs become hard and sticky and look like a C-shaped farm tool called a "sickle". Such abnormally shaped cells die early causing a constant shortage of RBCs. Additionally, they get easily stuck in small blood vessels blocking the flow of blood and oxygen to organs and tissues. Episodes of organ damage, serious infection, severe pain and even stroke can be cause due to these blockages.

Hemoglobin (Hb) is the oxygen-carrying protein in red blood cells. Normally, there are two alpha and two beta chains.

Different mutations in these genes can lead to four main forms of sickle cell anemia:

Hb SS: this is the most common type of SCD. It occurs when you inherit copies of the Hb S gene from both parents. It is the most severe form, with individuals experiencing the worst symptoms at a higher rate.

Hb SC: This is the second most common type occurring when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to those with Hb SS. However, the anemia is less severe.

Hb SB+: In this type beta globin gene production is affected. If inherited along with the Hb S gene, it results in the production of Hb SB+

HbSB0 : This is the fourth type of SCD, involving the beta gene. It is associated with a poorer prognosis and may display severe symptoms.

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Symptoms and complications

Anemia

Anemia in SCD is due to excessive breakage of fragile RBCs. RBCs generally live for about 120 days, which reduces tora maximum of 10 to 20 days in SCD.

Hand-foot syndrome

This occurs when sickle-shaped RBCs block blood vessels in the hands or feet causing the hands and feet to swell. It can also cause leg ulcers. Swollen hands and feet are often the first sign of SCD in babies.

Splenic sequestration

Blockage of the splenic vessels by sickle cells causes a sudden, painful enlargement of the spleen. Some patients will sustain enough damage to their spleen for it to become shrunken and non-functional. Patients without a spleen are at higher risk for certain bacterial infections.

Delayed growth

Delayed growth often occurs in people with SCD. Children are often shorter, but by adulthood, they regain their height. Sexual maturation may also be delayed. This is due to the lack of enough oxygen and nutrients supply by the diseased RBCs.

Neurological complications

Seizures and stroke can result due to blockages of blood supply to the brain by sickle cells.

Eye problems

Blindness is caused by blockages in the vessels supplying the eyes causing damage to the retina.

Skin ulcers

Skin ulcers over the legs can occur due to insufficient blood supply to the lower extremities

Heart disease

SCD can cause heart difficulties, such as heart attacks, heart failure, and irregular heart rhythms, since it interferes with blood oxygen flow.

Lung disease

Damage to the lungs over time related to decreased blood flow can result in high blood pressure in the blood vessels of the lungs (pulmonary hypertension) and scarring of the lung tissue (pulmonary fibrosis).

Priapism

Priapism is a lingering, painful erection due to blockage and engorgement of the blood vessels in the penis.

Gallstones

They are caused by the chronic breakdown of RBCs. May lead to abdominal pain and need for surgery

Sickle chest syndrome

This is a severe complication causing chest pain, cough, fever, sputum production, shortness of breath, and low blood oxygen levels. This is accompanied by increased risks of lung infections and death.

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Diagnosis

1. Diagnosis can be made prior to birth on the basis of a family history, parents or siblings being affected, and confirmed amniotic fluid testing.

2. Blood tests: a complete blood count showing low Hb, blood film examination showing abnormal "sickle type" RBCs

3. Sickle solubility test

4. Hb Electrophoresis

5. Genetic testing

Treatment

Maintaining adequate hydration, oxygenation and a healthy diet for prevention of symptoms and complications

Rehydration with intravenous fluids and maintaining normal oxygen saturation levels during crisis

Antibiotics for treating underlying infections.

Childhood vaccinations for preventing infections

Regular blood transfusions

Analgesics/ painkillers

Hydroxyurea: this is a drug that reduces the need for transfusions and disease related complications. However, this drug should not be taken during pregnancy

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Stem cell transplant: this is the only known cure for this condition. The diseased bone marrow cells are replaced by that of a healthy donor, preferably a sibling who has a matching HLA type.

(Dr. Amrita Chakrabarti, Consultant Hematology, Max Institute of Cancer Care, Shalimar Bagh)

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