Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease

被引：6

作者：

Akinbami, Anthony O. ^{[1
]}

Campbell, Andrew D. ^{[2
]}

Han, Zeqiu J. ^{[3
]}

Luo, Hong-Yuan ^{[1
]}

Chui, David H. K. ^{[1
]}

Steinberg, Martin H. ^{[1
]}

机构：

[1] Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA

[2] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA

[3] Quest Diagnost Nichols Inst, Chantilly, VA USA

来源：

HEMOGLOBIN | 2016年 / 40卷 / 01期

关键词：

Globin gene expression; globin genes; Hb F; sickle cell trait; PATHOGENESIS;

D O I：

10.3109/03630269.2015.1080725

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：64 / 65

页数：2