title: Haemoglobin H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation: a family study.
abstract: A Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with zeta-alpha-thal-1 and alpha2-codon 30 (DeltaGAG) mutation, the zeta-globin genes are intact in the two siblings, which most probably alleviates the gamma-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting.
authors.affiliation: Haematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China. eskma@hkucc.hku.hk
authors.forename: S K
authors.initials: SK
authors.lastname: Ma
authors.forename: A Y
authors.initials: AY
authors.lastname: Chan
authors.forename: E K
authors.initials: EK
authors.lastname: Chiu
authors.forename: L C
authors.initials: LC
authors.lastname: Chan
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008136:Longevity / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins