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Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran
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نویسنده
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miri-moghaddam e. ,nikravesh a. ,gasemzadeh n. ,badaksh m. ,rakhshi n.
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منبع
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international journal of hematology-oncology and stem cell research - 2015 - دوره : 9 - شماره : 3 - صفحه:138 -142
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چکیده
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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. subjects and 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 –α3.7 (rightward) with a frequency of 76.5%,followed by α−5 nt (16.8%),α2/ codon 19(-g) (4%),–α4.2 (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. © 2015,tehran university of medical sciences (tums). all rights reserved.
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کلیدواژه
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Alpha thalassemia; Baluch; Iran; Mutation; Prevalence
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آدرس
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genetics of non-communicable disease research center,zahedan university of medical sciences,zahedan,iran,department of genetics,zahedan university of medical sciences, ایران, department of molecular sciences,north khorasan university of medical sciences,bojnurd,iran, ایران, zabol university, ایران, zabol university of medical sciences, ایران, department of nursing and midwifery,bojnourd branch,islamic azad university, ایران
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Authors
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