Journal of Epidemiology and Global Health

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Volume 8, Issue 3-4, December 2018, Pages 189 - 195

Prevalence and Genetic Analysis of α- and β-Thalassemia and Sickle Cell Anemia in Southwest Iran

Authors
Forozan H. Nezhad1, Khojasteh H. Nezhad1, *, Parastoo M. Choghakabodi1, 2, Bijan Keikhaei1
1Research Center of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
2Department of Microbiology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
* Corresponding author. Email: khojasteh.h32@yahoo.com
Corresponding Author
Khojasteh H. Nezhad
Received 11 March 2018, Accepted 25 August 2018, Available Online 31 December 2018.
DOI
10.2991/j.jegh.2018.04.103How to use a DOI?
Keywords
Deletion mutants; Khuzestan; sickle cell anemia; thalassemia
Abstract

This prospective study assessed the prevalence and genetic analysis of α- and β-thalassemia and sickle cell anemia (SCA) in Southwest Iran. Hematological indices were measured in 17,581 couples living in Khuzestan Province, Southwest Iran. Individuals with mean corpuscular volume <80, mean corpuscular hemoglobin <27, hemoglobin A2 ≥3/5 were considered as β-thalassemia traits. Prevalence of minor β-thalassemia, α-thalassemia, SCA, iron deficiency anemia, and silent thalassemia were respectively identified in 995 (5.6%), 1169 (6.65%), 1240 (7.05%), 911 (5.18%), and 1134 (6.45%) individuals using a multiplex amplification refractory mutation system, and direct DNA sequencing of globin genes. Three codons IVS-II-1 (G → A; 26%; n = 13), IVS-I-1 (G → T; 16%; n = 8), and IVS-I-110 (G → A; 14%; n = 7) were the most frequent mutants and IVS-II-1 was the most common β-thalassemia mutation. Also, based on a gap-polymerase chain reaction assay, genotype frequencies of α-globin mutations were −α3.7 kb (50%; n = 25), Med/ααthal (12%; n = 6), and −α4.2/αα (10%; n = 5), which were the most frequent deletion mutants (72% in total). The most common deletion (50%) was −α3.7 kb. Our data suggest that the population of Southwest Iran is at high risk of α- and β-thalassemia caused by these deletion mutants and SCA. Our findings will be useful for developing an efficient control program and genetic counseling.

Copyright
© 2018 Atlantis Press International B.V.
Open Access
This is an open access article under the CC BY-NC license (http://creativecommons.org/licences/by-nc/4.0/).

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<Previous Article In Issue
Next Article In Issue>
Journal
Journal of Epidemiology and Global Health
Volume-Issue
8 - 3-4
Pages
189 - 195
Publication Date
2018/12/31
ISSN (Online)
2210-6014
ISSN (Print)
2210-6006
DOI
10.2991/j.jegh.2018.04.103How to use a DOI?
Copyright
© 2018 Atlantis Press International B.V.
Open Access
This is an open access article under the CC BY-NC license (http://creativecommons.org/licences/by-nc/4.0/).

Cite this article

risenwbib
TY  - JOUR
AU  - Forozan H. Nezhad
AU  - Khojasteh H. Nezhad
AU  - Parastoo M. Choghakabodi
AU  - Bijan Keikhaei
PY  - 2018
DA  - 2018/12/31
TI  - Prevalence and Genetic Analysis of α- and β-Thalassemia and Sickle Cell Anemia in Southwest Iran
JO  - Journal of Epidemiology and Global Health
SP  - 189
EP  - 195
VL  - 8
IS  - 3-4
SN  - 2210-6014
UR  - https://doi.org/10.2991/j.jegh.2018.04.103
DO  - 10.2991/j.jegh.2018.04.103
ID  - Nezhad2018
ER  -