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Thalassaemias Condition Genetic defect Clinical features Homozygous fi fi chain suppression Severe anaemia: Hb <7 g/dl thalassaemia or deletion Dependent on transfusion (fi thalassaemia main) Heterozygous fi fi chain deletion Asymptomatic: gentle anaemia: thalassaemia Hb >10 g/dl (fi thalassaemia minor trait) Thalassaemia fi chain suppression Heterogeneous: ranges from intermedia or deletion asymptomatic to resembling fi thalassaemia main: Hb 7пїЅ10 g/dl Homozygous fi All 4 fi globin chains Fetus doesn't survive thalassaemia deleted (hydrops fetalis) fi thalassaemia minor Loss of two or three Usually mild or reasonable fi genes fi thalassaemia trait Loss of one or two Symptomless: mild microcytic, fi genes hypochromic anaemia 104 the differentiation at presentation between thalassaemia intermedia and main is essential in determining appropriate treatment. 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