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BioMed Research International
Volume 2013 (2013), Article ID 803487, 10 pages
Review Article

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

1Medical Biology Research Center, Kermanshah University of Medical Sciences, Daneshgah Avenue, P.O. Box 67148-69914, Kermanshah, Iran
2Department of Biochemistry, Medical School, Kermanshah University of Medical Sciences, Daneshgah Avenue, P.O. Box 67148-69914, Kermanshah, Iran

Received 6 April 2013; Accepted 3 June 2013

Academic Editor: Bipin Savani

Copyright © 2013 Zohreh Rahimi. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.