Delta-beta thalassaemia in a pathan family
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2017; 27 (11): 722-724
em Inglês
| IMEMR
| ID: emr-191328
ABSTRACT
Delta-beta-thalassaemia [macron beta-thalassaemia] is a rare type of thalassaemia which mostly results from deletion of macron and beta genes with preservation of gamma genes. Macron beta-thalassaemia is classified into [macron beta]+ and [macron beta] 0 types. The [macron beta] 0-thalassemia is further divided into G gamma A gamma [macron beta] 0-thalassaemia and G gamma [A gamma macron beta] 0-thalassaemia. In heterozygous state, [macronbeta] 0 mutations give rise to phenotype resembling beta-thalassaemia trait but with raised Hb-F, ranging from 5 to 20%, without a rise in Hb-A2. In homozygotes, the clinical picture is usually that of thalassaemia intermedia and the patients have 100% Hb-F. Workup of a 1-year child suffering from pallor, chronic ill health, and splenomegaly referred to our laboratory with the suspicion of beta-thalassaemia, ultimately resulted in a diagnosis on polymerase chain reaction as having homozygous inversion/deletion G gamma [A gamma macron beta] 0-thalassaemia. Her family members were also investigated
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Índice:
IMEMR (Mediterrâneo Oriental)
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2017
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