镰状细胞性状和Hb SC病中由单核苷酸启动子突变引起的胎儿血红蛋白遗传性持续存在。
Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease.
作者信息
Akinbami Anthony O, Campbell Andrew D, Han Zeqiu J, Luo Hong-Yuan, Chui David H K, Steinberg Martin H
机构信息
a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
b Department of Pediatrics , University of Michigan , Ann Arbor , Michigan , USA.
出版信息
Hemoglobin. 2016;40(1):64-5. doi: 10.3109/03630269.2015.1080725. Epub 2015 Sep 15.
Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the γ-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)γ-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)γ-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)γ- and (G)γ-globin gene promoters in cis [(G)γ(A)γ(β(+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.
胎儿血红蛋白遗传性持续存在（HPFH）可由γ-珠蛋白基因启动子中的点突变引起。我们报告三例罕见病例：一名儿童为Hb S（HBB：c.20A>T）和HPFH的复合杂合子，其（A）γ-珠蛋白基因启动子有一个新的点突变，Hb S占42.0%，Hb A占17.0%，Hb F占38.0%；一名患有Hb SC（HBB：c.19G>A）疾病的男性，其（G）γ-珠蛋白基因启动子有一个点突变，Hb S占54.0%，Hb C占18.0%，Hb F占25.0%；一名儿童因顺式（G）γ-和（A）γ-珠蛋白基因启动子均发生突变而成为Hb S和HPFH的杂合子[（G）γ（A）γ（β(+)）HPFH]，Hb A占67.0%，Hb S占6.5%，Hb F占25.0%。
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