Thalassemia

Thalassaemia is an inherited blood disorder in which the body makes abnormal haemoglobin (the protein in red blood cells that carries oxygen). This leads to anaemia — sometimes mild, sometimes severe enough to require regular blood transfusions. Thalassaemia carrier rates are significant in India, particularly in some communities. Screening before marriage and during pregnancy can help couples avoid having children with severe thalassaemia.

Types

• Thalassaemia minor (trait / carrier) — you carry the gene but are mostly well; may have mild anaemia. Important for genetic counselling.
• Thalassaemia intermedia — moderate anaemia; sometimes needs transfusions
• Thalassaemia major — severe; usually diagnosed in the first 2 years of life. Needs regular transfusions every 3-4 weeks for life, plus iron-chelation treatment to handle transfusion-related iron overload.
• Alpha- and beta-thalassaemias are the two main sub-groups depending on which haemoglobin chain is affected.

Symptoms

Thalassaemia major shows up in the first year or two of life:

• Severe anaemia — paleness, poor feeding, weight loss
• Enlarged spleen
• Failure to thrive, delayed growth
• Bone changes (especially of the face and skull) from expanded bone marrow
• In older children — jaundice, delayed puberty

Thalassaemia minor usually causes mild anaemia only, often first noticed on a routine blood test.

Diagnosis

• Complete blood count — shows typical small, pale red cells with mild anaemia (in carriers) or severe anaemia (in major)
• Haemoglobin electrophoresis / HPLC — identifies abnormal haemoglobin patterns
• Genetic (DNA) testing — confirms the specific mutation
• Prenatal testing — if both parents are carriers; chorionic villus sampling or amniocentesis

Treatment

• Thalassaemia major — regular blood transfusions; iron-chelation to prevent iron overload from transfusions; splenectomy in selected cases; bone marrow (stem cell) transplant — the only curative option, done in suitable patients with matched donors
• Thalassaemia minor — usually no treatment needed; avoid unnecessary iron supplements
• Genetic counselling — crucial for couples where one or both are carriers; informed choices before marriage and pregnancy
• Prenatal diagnosis — available in India; allows couples to make informed pregnancy decisions
• New therapies — gene therapy is now approved in several countries and is beginning to be available in India; talk to a specialist if relevant

Prevention — the most effective approach

• Carrier screening — a simple blood test before marriage or during early pregnancy identifies carriers
• Genetic counselling for couples where both are carriers — 25% chance of each child having thalassaemia major
• Prenatal diagnosis when needed
• Community-level screening programmes in many Indian states
• Many public-sector and private hospitals offer free or subsidised blood-transfusion services for children with thalassaemia major

Talk to your doctor about thalassaemia screening especially if either side of your family has had a child with severe anaemia, or if you're from a community with known high carrier rates.