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Hemoglobin
international journal for hemoglobin research
Volume 17, 1993 - Issue 5
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Original Article

β-Thalassemia in Southwestern Iran

, , , , , & show all
Pages 427-437 | Received 11 Feb 1993, Accepted 29 Jun 1993, Published online: 07 Jul 2009
 

Abstract

Seventeen unrelated β-thalassemia patients or carriers from Southwestern Iran were examined for the β-globin gene mutations by polymerase chain reaction amplification of the β-globin gene and direct genomic sequencing, or by the method of allele-specific oligonucleotide hybridization. Their clinical and hematological characteristics were also recorded. Of 26 potential thalassemia-causing chromosomes examined, 10 different mutations were found. The IVS-11-1 (G→A) mutation was the most frequent (31%) followed by the IVS-1-6 (T→43 mutation (15%). Eight mutations were initially described in Mediterranean populations and two were of Kurdish origin. Four of these mutations, both initially described in the Mediterranean region, are reported here for the first time in Iranians. The unexpectedly high number of different mutations that account for β-thalassemia in this region of Iran suggest migration of chromosomes from distant places and genetic admixture.

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