title: Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)).
abstract: 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.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK.
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
authors.forename: Sarah
authors.initials: S
authors.lastname: Green
authors.forename: Sue
authors.initials: S
authors.lastname: Height
authors.forename: Helena
authors.initials: H
authors.lastname: Ayyub
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins