Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
复制标题
中间型β地中海贫血是由于两个β-珠蛋白基因启动子突变的复合杂合性造成的，其中包括一个新的TATA盒缺失。
DOI：
10.1002/pbc.20916
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发表时间：
2008
影响因子：
3.2
通讯作者：
Chui,DavidHK
中科院分区：
文献类型：
--
作者：
Basran,RaveenK;Reiss,UlrikeM;Luo,Hong-Yuan;Ware,RussellE;Chui,DavidHK
An 8‐year‐old African‐American boy had a clinical history consistent with mild β‐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 A2= 5.0%, and Hb F = 56.1%. At age 8 years, he was diagnosed to be a compound heterozygote for two β‐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 β‐globin gene. His mother and 14‐year‐old brother were simple heterozygotes for this novel (AA) deletion. Both heterozygotes had normal Hb level, borderline microcytosis, and elevated Hb A2. Pediatr Blood Cancer 2008;50:363–366. © 2006 Wiley‐Liss, Inc.
