A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

Abstract

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 8.2kb deletion (--(AW)), involving both alpha-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.

• Authors: Marion Phylipsen, Ingrid P Vogelaar, Rianne A C Schaap, Sandra G J Arkesteijn, George L Boxma, Willem C H van Helden, Irene C M Wildschut, Andrea C de Bruin-Roest, Piero C Giordano, Cornelis L Harteveld
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 45 Issue 2 Pg. 133-5 (Aug 15 2010) ISSN: 1096-0961 [Electronic] United States
• PMID: 20682466 (Publication Type: Journal Article)
• Copyright: 2010 Elsevier Inc. All rights reserved.

Chemical References

• alpha-Globins

Topics

• Adult
• Aged, 80 and over
• Female
• Humans
• Male
• Middle Aged
• Netherlands
• Sequence Deletion (genetics)
• alpha-Globins (deficiency, genetics)
• alpha-Thalassemia (blood, diagnosis, genetics)