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To date, more than 35 single or oligonucleotide mutations of the alpha genes that cause alpha thalassaemia have been described. Their interactions give rise to widely variable clinical manifestations, from a mild hypochromic, microcytic anaemia to a lethal intrauterine anaemia associated with hydrops fetalis. Understanding the molecular genetics enables accurate genotyping, genetic counselling and prenatal testing for the most severe forms of alpha thalassaemia. Here we show for the first time that the interaction between two relatively common forms of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)) may be associated with a clinically severe form of alpha thalassaemia, Hb H hydrops fetalis.

Type

Journal article

Journal

Br J Haematol

Publication Date

06/2002

Volume

117

Pages

759 - 762

Keywords

Adult, Fatal Outcome, Female, Genotype, Globins, Humans, Hydrops Fetalis, Infant, Newborn, Male, Mutation, alpha-Thalassemia