Journal
HEMOGLOBIN
Volume 40, Issue 1, Pages 64-65Publisher
TAYLOR & FRANCIS LTD
DOI: 10.3109/03630269.2015.1080725
Keywords
Globin gene expression; globin genes; Hb F; sickle cell trait
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Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the -globin gene promoters. We report three rare cases: a child compound heterozygous for Hb S (HBB: c.20A>T) and HPFH with a novel point mutation in the (A)-globin gene promoter who had 42.0% Hb S, 17.0% Hb A and 38.0% Hb F; a man with Hb SC (HBB: c.19G>A) disease and a point mutation in the (G)-globin gene promoter who had 54.0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the (A)- and (G)-globin gene promoters in cis [(GA)((+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.
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