The genetic basis of asymptomatic codon 8 frame‐shift (HBB:c25_26delAA) β0‐thalassaemia homozygotes

Summary Two 21‐year old dizygotic twin men of Iraqi descent were homozygous for HBB codon 8, deletion of two nucleotides (–AA) frame‐shift β0‐thalassaemia mutation (FSC8; HBB:c25_26delAA). Both were clinically well, had splenomegaly, and were never transfused. They had mild microcytic anaemia (Hb 12...

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Veröffentlicht in:	British journal of haematology 2016-03, Vol.172 (6), p.958-965
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	fetal haemoglobin HbF quantitative trait loci HBS1L‐MYB intergenic polymorphism α‐Thalassaemia β0‐Thalassaemia
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