Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran.
BACKGROUND
Alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. The aim of this study was to investigate the spectrum of α-thal mutations among premarital Baluch couples in southeastern Iran.


METHODS
We assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-PCR) and amplification refractory mutation system (ARMS-PCR).


RESULTS
Of the 1215 participants with mean age of 23±5.7 years, 62.3% lived in urban areas, and the rate of consanguineous marriage was 68.1%. Five mutations were identified, the most frequent one was -α (3.7) (rightward) with a frequency of 76.5%, followed by α (-5 nt) (16.8%), α2/ Codon 19(-G) (4%), -α (4.2) (leftward)(2.4%), - -MED (0.3%) among mutated alleles of the α -globin gene. Conclusion : Knowing the alpha-genotype is helpful for genetic counseling, microcytic anemia discrimination and hemoglobinopathy prevention.
Genetics of Non-communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan-Iran ; Department of Genetics, Zahedan University of Medical Sciences, Zahedan-Iran.
Ebrahim
E
Miri-Moghaddam
Department of Molecular Sciences, Faculty of Medicine, North Khorasan University of Medical Sciences, Bojnurd-Iran ; Esfarayen Faculty of Medical Sciences, Esfarayen, Iran.
Abass
A
Nikravesh
Department of Biology, Faculty of Basic Sciences, Zabol University, Zabol-Iran.
Negin
N
Gasemzadeh
Department of Midwifery, Faculty of Nursing and Midwifery, Zabol University of Medical Sciences, Zabol-Iran.
Mahin
M
Badaksh
Department of Nursing and Midwifery, Bojnourd branch, Islamic Azad University, Bojnourd, Iran.
Nahid
N
Rakhshi
Alpha thalassemia; Baluch; Iran; mutation; prevalence