A new α0-thalassemia deletion found in a Dutch family (-AW)

被引：20

作者：

Phylipsen, Marion ^{[1
]}

Vogelaar, Ingrid P. ^{[1
]}

Schaap, Rianne A. C. ^{[1
]}

Arkesteijn, Sandra G. J. ^{[1
]}

Boxma, George L.

van Helden, Willem C. H. ^{[2
]}

Wildschut, Irene C. M.

de Bruin-Roest, Andrea C.

Giordano, Piero C. ^{[1
]}

Harteveld, Cornelis L. ^{[1
]}

机构：

[1] LUMC, Hemoglobinopathies Lab, Dept Human & Clin Genet, NL-2333 ZC Leiden, Netherlands

[2] T Lange Land Hosp, Dept Clin Chem, Zoetermeer, Netherlands

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2010年 / 45卷 / 02期

关键词：

Thalassemia; Deletion; Breakpoint characterization; DEPENDENT PROBE AMPLIFICATION; GLOBIN GENE-CLUSTER; ALPHA-THALASSEMIA; RECOMBINATION; MUTATION; REPEATS;

D O I：

10.1016/j.bcmd.2010.05.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gene cluster. A deletion in the alpha-globin gene cluster, which was found in a Dutch family, was characterized by MLPA, long-range PCR and direct sequencing. We describe the molecular characterization of a novel 8.2 kb deletion (-(AW)), involving both a-globin genes in cis. The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence. This deletion is the third example of a non-homologous recombination event involving an Alu and an L1 repeat, and the first described in the human alpha-globin gene cluster. Because of a 25% risk of Hb Bart's with hydrops foetalis in the offspring when in combination with another alpha(0)-thalassemia allele, it is important to diagnose this deletion. (C) 2010 Elsevier Inc. All rights reserved.

引用

页码：133 / 135

页数：3

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