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Beta‐Thalassaemia of Clinical Significance in Adult Jamaican Negroes
Author(s) -
Ahern E.,
Herbert R.,
Mciver C.,
Ahern V.,
Wardle J.,
Seakins M.
Publication year - 1975
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.1365-2141.1975.tb00534.x
Subject(s) - medicine , beta (programming language) , pediatrics , beta thalassemia , ineffective erythropoiesis , family studies , beta thalassaemia , erythropoiesis , thalassemia , anemia , genetics , biology , computer science , programming language
S ummary . Over a 9‐year period, three adult Negro patients with β‐thalassaemia of clinical significance were recognized out of approximately 185 000 new adult patients attending the University Hospital. These patients, aged 15–58 years, have clinical and haematological characteristics within the spectrum of β‐thalassaemia intermedia; which in this paper refers to phenotypes resulting from defects in β‐chain synthesis clinically intermediate between classical Cooley's anaemia and β‐thalassaemia trait, genetic classification being dependent on family study. Family studies established the presence of two β‐thalassaemia genes conclusively in one case (proposita, family A); presumptively in another (propositus, family C); while in the remaining subject (proposita, family B), who has two similarly affected siblings, homozygosity is suspected, but not proven by family study. In simultaneous 59 Fe and 51 Cr studies, estimates of effective erythropoiesis are in reasonable agreement with measurements of red cell destruction.