Repository of Research and Investigative Information

Repository of Research and Investigative Information

Zahedan University of Medical Sciences

A Patient With Coinheritance of Alpha-Globin Gene Triplication and IVSI-5 Mutation of Beta-Globin Gene

(2015) A Patient With Coinheritance of Alpha-Globin Gene Triplication and IVSI-5 Mutation of Beta-Globin Gene. Zahedan Journal of Research in Medical Sciences. pp. 1-3. ISSN 2383-2894

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Abstract

The –α 3.7 rightward deletion is the most frequent α-globin mutation but ααα (anti 3.7) triplication is relatively rare. We describe 2 years old female that was heterozygous of IVSI-5 mutation and homozygous α 3.7 triplication. The hematological picture of β-thalassemia heterozygotes with a triplicated α-globin gene arrangement is variable. Suggested that homozygous alpha-gene triplication interacts with a severe β-thalassemia mutation to cause α-chain excess equivalent to that observed in homozygous β-thalassemia intermedia.

Item Type: Article
Keywords: Thalassemia Intermedia; Alpha 3.7 Triplication; β-Thalassemia
Subjects: WQ Obstetrics > WQ 300-330 Labor
Divisions: Education Vice-Chancellor Department > Faculty of Medicine > Departments of Clinical Sciences > Department of Obstetrics and Gynecology
Page Range: pp. 1-3
Journal or Publication Title: Zahedan Journal of Research in Medical Sciences
Journal Index: ISC
Volume: 17
Number: 5
Identification Number: https://doi.org/10.17795/zjrms975
ISSN: 2383-2894
Depositing User: خانم شهره شهرکی
URI: http://eprints.zaums.ac.ir/id/eprint/3163

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