Sickle cell disease is a genetic blood disorder that affects the shape of red blood cells and further decreases life expectancy.

In the Union Budget 2023-24, a mission to eliminate sickle cell anaemia by 2047 was announced, with a focus on awareness and screening programmes for people aged 0 to 40 years.

In India, the disease is more common in tribal populations, but is also found among non-tribals.

In sickle cell disease, a person’s red blood cells are shaped like a “sickle” because of a genetic condition. Because of this, the blood cells cannot bend or flow easily throughout the body.

There is no cure for sickle cell disease yet. However, doctors prescribe medications and other treatment options to control the symptoms, which are lifelong.

On World Sickle Cell Day, here’s everything you need to know about the disease.

What is sickle cell disease?

Sickle cell disease is a genetic blood disorder that affects the shape of red blood cells. Normally, red blood cells are round and flexible, but in sickle cell disease, they become rigid and crescent-shaped, resembling a sickle.

This abnormal shape makes it difficult for these cells to move smoothly through the blood vessels, causing blockages and various health problems.

It is caused by a mutation in the gene that tells the body how to make hemoglobin, a protein in red blood cells that carries oxygen.

Both parents must pass on the defective gene for a child to develop the disease.

If a person inherits the gene from only one parent, they have sickle cell trait and can pass the gene on to their children, but they usually don’t show symptoms.

Symptoms of sickle cell disease

• Periods of intense pain, called pain crises, usually occur in the chest, joints, and bones.
• Fatigue and anemia due to the rapid breakdown of red blood cells.
• Swelling in the hands and feet, which is caused by sickle-shaped cells blocking blood flow.
• Frequent infections, as the spleen, which helps fight infections, can be damaged by the disease.
• Delayed growth and puberty in children due to chronic anemia.

Diagnosis

Sickle cell disease is usually diagnosed through a blood test. In many countries, newborns are routinely screened for the disease.

This test checks for the presence of hemoglobin S, which is a defective form of hemoglobin that causes sickle cell disease.

Treatment

Although there is no universal cure for sickle cell disease, treatment can help control symptoms and reduce complications.

• Painkillers to relieve pain.
• Blood transfusion for the treatment of anemia and prevention of stroke.
• Hydroxyurea, a medication that can reduce the frequency of pain and the need for blood transfusions.
• Bone marrow or stem cell transplants, which can potentially cure the disease, but are not suitable for all patients because of risks and availability of donors.

India’s elimination strategy

Despite numerous efforts by public and private bodies, patients still face challenges due to limited healthcare access, especially in remote areas where there is stigma associated with the disease.

On World Sickle Cell Day, Union Tribal Affairs Minister Jual Oram shared a message about awareness about the disease in tribal areas.

According to the Health Ministry, over 1 crore people have been screened for sickle cell disease under the National Mission to Eliminate Sickle Cell Anemia. The mission was launched last year to screen over 7 crore people between 0-40 years in the affected tribal areas.