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Does my child have the thalassaemia trait?

Q: I am a 29 years old woman and in the beginning of the 4th month of my pregnancy I got my HBA2 test done, for which the report was - suggestive of Beta Thalassaemia Trait result was - 5.4 and reference range is 1-4. Now please guide me, what is the procedure ahead? Is it dangerous for me or the child inside me?

A:The beta-thalassaemia syndromes (thalassaemia major and b-thalassaemia inter-media) occur due to the absence of or a reduction in the synthesis of structurally normal beta-globin chains the normal constituents of haemoglobin. This beta-globin chain deficiency leads to severe anaemia by impairing the formation of functional Hb A (the normal Hb found in adults). The severity of these disorders is determined primarily by the type of the gene defect as well as the gene dosage. An adult normally has the following types of haemoglobins (Hb) present in blood: Hb A – made up of 2 alpha & 2 beta globin chains: 95% of total Hb A2 – made up of 2 alpha & 2 delta globin chains: 3% of total Hb F – made up of 2 alpha & 2 gamma globin chains: 2% of total There are 2 beta globin genes that control the production of the 2 beta chains. If both genes are affected, then the individual is said to have beta thalassaemia major while one-gene abnormality results in beta thalassaemia minor. Persons with thalassaemia minor have mild anaemia (slight lowering of the hemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anaemia. The normal Hb A2 level in an adult is less than 3.5% and it is elevated (>4%) in b-thalassaemia trait. Beta thalassaemia trait (or heterozygous b-thal or thal minor or thal carrier) is a clinically benign disorder. The importance lies in the fact that if both parents are carriers (i.e. carry one abnormal b-gene), an offspring may co-inherit a b-thalassaemia gene from both the parents making it homozygous resulting in a medically significant thalassaemia (b-thalassaemia major). Your husband needs to be investigated to exclude if he too is a carrier. In case he is normal, nothing further needs to be done. If he is a carrier too, then both of you would need genetic counselling and explained the need for prenatal genetic testing and other options. There are, however, very rare instances where a thal carrier may have normal Hb A2 level and such cases can be detected only by DNA analysis (so called Silent or near silent b-thalassaemia trait).

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