Article
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes.
British journal of haematology - 1 Mar 2016
Jiang Zhihua, Luo Hong-Yuan, Huang Shengwen, Farrell John J, Davis Lance, Théberge Roger, Benson Katherine A, Riolueang Suchada, Viprakasit Vip, Al-Allawi Nasir A S, Ünal Sule, Gümrük Fatma, Akar Nejat, Başak A Nazli, Osorio Leonor, Badens Catherine, Pissard Serge, Joly Philippe, Campbell Andrew D, Gallagher Patrick G, Steinberg Martin H, Forget Bernard G, Chui David H K
Abstract excerpt
Two 21-year old dizygotic twin men of Iraqi descent were homozygous for HBB codon 8, deletion of two nucleotides (-AA) frame-shift β(0) -thalassaemia mutation (FSC8; HBB:c25_26delAA). Both were clinically well, had splenomegaly, and were never transfused. They had mild microcytic anaemia (Hb 120-130 g/l) and 98% of their haemoglobin was fetal haemoglobin (HbF). Both were carriers of Hph α-thalassaemia mutation....
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