β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion

被引：6
|
作者：
Basran, Raveen K. [1 ,2 ]
Reiss, Ulrike M. [3 ]
Luo, Hong-Yuan [1 ,2 ]
Ware, Russell E. [3 ]
Chui, David H. K. [1 ,2 ,4 ]
机构：
[1] Boston Med Ctr, Hemoglobin Diagnost Reference Lab, Boston, MA 02118 USA
[2] Boston Univ, Sch Med, Ctr Excellence Sickle Cell Dis, Boston, MA 02118 USA
[3] St Jude Childrens Res Hosp, Div Hematol, Memphis, TN 38105 USA
[4] Boston Univ, Sch Med, Dept Pathol & Lab Med, Boston, MA 02118 USA
来源：
PEDIATRIC BLOOD & CANCER | 2008年 / 50卷 / 02期
关键词：
beta-thalassemia intermedia; promoter mutation; TATA box;
D O I：
10.1002/pbc.20916
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
An 8-year-old African-American boy had a clinical history consistent with mild P-thalassemia intermedia with moderate anemia, microcytosis, reticulocytosis, and splenomegaly. He was asymptomatic and did not require transfusion. At age 4 years, hemoglobin (Hb) electrophoresis showed Hb A = 37.8%, Hb A(2) = 5-0%, and Hb F = 56.1%. At age 8 years, he was diagnosed to be a compound heterozygote for two P-globin gene promoter mutations, the relatively common nucleotide (nt) -88 C -> T mutation from the cap site, and a novel two-nucleotide (AA) deletion between nt -29 and -26 within the TATA box of the P-globin gene. His mother and 14-year-old brother were simple heterozygotes for this novel (AA) deletion. Both heterozygotes had normal Hlb level, borderline microcytosis, and elevated Hb A(2). Pediatr Blood Cancer 2008;50:363-366. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码：363 / 366
页数：4
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