spectrum of alpha-globin gene mutations among premarital baluch couples in southeastern iran.

نویسندگان

ebrahim miri-moghaddam genetics of non-communicable disease research center, zahedan university of medical sciences, zahedan-iran; department of genetics, zahedan university of medical sciences, zahedan-iran.

abass nikravesh department of molecular sciences, faculty of medicine, north khorasan university of medical sciences, bojnurd-iran ; esfarayen faculty of medical sciences, esfarayen, iran.

negin gasemzadeh department of biology, faculty of basic sciences, zabol university, zabol-iran.

mahin badaksh department of midwifery, faculty of nursing and midwifery, zabol university of medical sciences, zabol-iran.

چکیده

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.

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Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran

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عنوان ژورنال:
international journal of hematology-oncology and stem cell research

جلد ۹، شماره ۳، صفحات ۱۳۸-۱۴۲

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