title: British type alpha 0-thalassaemia in New Zealand.
abstract: Alpha zero-thalassaemia of the British type is described for the first time in a New Zealand family. Microcytic, hypochromic red blood cells were found in affected individuals. Exclusion of iron deficiency and beta-thalassaemia suggested alpha-thalassaemia as a possible cause. This was confirmed by the detection of haemoglobin (Hb) H inclusion bodies. Definitive characterisation of the alpha-thalassaemia defect required DNA mapping which demonstrated the British alpha zero-thalassaemia deletion involving both alpha globin genes. alpha zero-thalassaemia should no longer be considered a disorder affecting individuals of Mediterranean or Asian backgrounds. Anglo-Saxons are also an at risk group. Co-inheritance of this abnormality with a second alpha-thalassaemia defect can lead to Hb H disease or Hb Bart's hydrops fetalis.
authors.affiliation: Haematology Department, Royal Prince Alfred Hospital, NSW, Australia.
authors.forename: R J
authors.initials: RJ
authors.lastname: Trent
authors.forename: J
authors.initials: J
authors.lastname: Yakas
authors.forename: J
authors.initials: J
authors.lastname: Rutherford
authors.forename: H A
authors.initials: HA
authors.lastname: Blacklock
authors.forename: K N
authors.initials: KN
authors.lastname: Mickleson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009520:New Zealand; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D006113:United Kingdom