Thalassaemia is an inherited blood disorder in which the body makes too little or abnormal haemoglobin, causing anaemia. People with one changed gene (thalassaemia minor, or carriers) are usually healthy with mild anaemia. A child who receives the gene from both parents can have thalassaemia major, a serious illness that needs regular blood transfusions for life. It is common in Afghanistan and the region, and testing before marriage can prevent it.
Symptoms
Carriers (minor): usually no symptoms, or mild tiredness and pale skin
Major: severe paleness and weakness starting in the first 1 to 2 years of life
Major: poor feeding, slow growth and frequent infections
Major: yellow eyes, dark urine and a swollen belly from a large spleen or liver
Major: changes in the face and skull bones if not treated
Causes
Inherited changes in the genes that make haemoglobin
If both parents are carriers, each child has a 1 in 4 chance of thalassaemia major
Marriage between relatives, such as cousins, increases the chance that both parents carry the same gene
It is not caused by infection, diet or anything the mother did in pregnancy
Prevention
Blood test (CBC and haemoglobin test) before marriage, especially between relatives
Genetic counselling for couples who are both carriers
Testing in early pregnancy where available for carrier couples
Family members of a person with thalassaemia should be tested
Treatment
Carriers usually need no treatment
Carriers should not take iron tablets unless a blood test shows iron deficiency
Thalassaemia major: regular blood transfusions, usually every 2 to 5 weeks, at a specialist centre
Medicine to remove extra iron from the body (iron chelation), prescribed by a specialist
Folic acid, vaccines and treatment of infections
Bone marrow transplant can cure some children in specialist centres
Common questions
Can two thalassaemia carriers marry?
They can, but each pregnancy has a 1 in 4 chance of a child with thalassaemia major. Couples should get genetic counselling before marriage or pregnancy to understand their options.
I have thalassaemia minor. Should I take iron for my anaemia?
Only if a blood test shows you are also low in iron. Taking iron when it is not needed can cause harmful iron build-up.
