Premium
Detection of Alpha Thalassaemia in Negro Infants
Author(s) -
Higgs D. R.,
Pressley L.,
Clegg J. B.,
Weatherall D. J.,
Higgs S.,
Carey P.,
Serjeant G. R.
Publication year - 1980
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1980.tb05933.x
Subject(s) - alpha (finance) , genotype , medicine , alpha chain , alpha thalassemia , biology , pediatrics , genetics , gene , surgery , construct validity , patient satisfaction
S ummary . A prospective study of 2291 Negro infants in Jamaica showed that approximately 7% of them had detectable levels of Hb Bart's (γ 4 ) in the neonatal period. The red cell indices, globin chain biosynthesis And restriction endonuclease mapping of DNA from these infants were used to determine the significance of Hb Bart's at birth. The results indicate that the genotypes αα/αα, —α/αα and —α/—α are associated with 0%, 0.1–2%, and greater than 2% Hb Bart's respectively. Although trace amounts of Hb Bart's may be associated with the genotype —α/αα this is not always the case and therefore haemoglobin analysis in the neonatal period cannot be used to diagnose this genotype with any certainty.