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Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 2
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Original Article

Novel Mutations Responsible for α-Thalassemia in Iranian Families

, , , , , , , , & show all
Pages 148-159 | Received 17 Jun 2012, Accepted 05 Oct 2012, Published online: 12 Feb 2013
 

Abstract

α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA sequencing. The nucleotide changes were studied and a total of five new mutations was identified, of which three were located on the α2 gene [codon7 (Lys→Stop), codon 34 (Leu→Pro) and codon 83 (Leu→Arg)] and two on the α1 gene [IVS-I-116 (A>G) and codon 44 (+C)]. These novel mutations not only explain new findings by molecular analysis of the α-globin gene but also have clinical importance due to their changes in α-globin production in means of decreased hemoglobin (Hb) related values. Moreover, considerations of its role in combination with other mutations, and the possibility of causing Hb H (β4) are yet to be studied.

ACKNOWLEDGMENTS

We would like to thank all our colleagues at the Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran, the families, and the genetic consultants who referred them to our laboratory.

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