Sickle Cell Disease

Sickle cell disease (SCD) is an inherited disorder of haemoglobin — the protein in red blood cells that carries oxygen. The abnormal haemoglobin makes red cells stiff and sickle-shaped; they block small blood vessels, breaking apart and causing pain, anaemia and organ damage.

How it is inherited

• If both parents carry one sickle gene ("sickle cell trait"), each child has a 1-in-4 chance of having sickle cell disease.
• Trait carriers themselves are usually healthy — but two carriers marrying means a risk for their children.
• A simple blood test (haemoglobin electrophoresis / HPLC) diagnoses both trait and disease.

India-specific context

Sickle cell disease is strongly concentrated in India's tribal belt — Madhya Pradesh, Chhattisgarh, Odisha, Maharashtra, Gujarat, Jharkhand, Rajasthan and parts of the south. In some communities, around 1 in 86 births has the disease and roughly 1 in 6 may carry the trait. A national sickle cell elimination mission is now offering free screening in these areas. Pre-marital screening in affected communities is the single most effective prevention step.

Symptoms

• Painful crises — severe pain in the back, chest, arms, legs, lasting hours to days.
• Chronic anaemia — fatigue, pallor, breathlessness.
• Swelling of hands and feet in young children (often the first sign).
• Jaundice.
• Frequent infections — children are at particular risk.
• Delayed growth.

Red flags — go to hospital (112)

• Severe chest pain or breathlessness — may be acute chest syndrome.
• Sudden weakness on one side, slurred speech — may be stroke.
• High fever in a child with SCD.
• Sudden severe abdominal pain.
• Priapism (prolonged painful erection) lasting over 2-3 hours.

Treatment

• Hydroxyurea reduces frequency of pain crises — available widely in India.
• Folic acid supplementation.
• Vaccination against pneumococcus, meningococcus and influenza — people with SCD are more vulnerable to infection.
• Pain control and hydration during crises.
• Blood transfusions for severe anaemia or complications.
• Stem-cell (bone-marrow) transplant can cure SCD — available in select centres, but donor match and cost remain barriers.