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Iranian Journal of Pediatric Hematology and Oncology، جلد ۱۰، شماره ۳، صفحات ۲۰۰-۲۰۲
عنوان فارسی گزارش یک مورد کودک ناقل هموگلوبین دانشگاه تهران در شمال ایران
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عنوان انگلیسی Hemoglobin Daneshgah-Tehran (HBA1:c.218A>G p.His72Arg): a Rare α1-Globin Variant from Iran
چکیده انگلیسی مقاله There are more than 400 different variations on α-globin protein, and most of them are not associated with noticeable clinical manifestation. Hemoglobin (Hb) is an oxygen-transporting protein and Hb Daneshgah- Tehran is an α-globin variant that for the first time was reported from Iran in a case with normal haematological indices. The capillary electrophoresis of an 8-year- old-girl with normal hematological parameters showed a peak in the location of Hb S (19.2%) with small amount of Hb A2 variant. The sequencing analysis indicated that the patient was heterozygote for Hb Daneshgah- Tehran (HBA1:c.218A>G p.His72Arg). Alpha and beta thalassemia are common health problems in north of Iran, and about 15% of Mazandarani people are carriers for alpha globin gene deletions, hence premarital screening program can help diagnosis of common and rare hemoglobinopathies. This case was the first report on Hb Daneshgah- Tehran from Mazandaran and the second one from Iran. The presented case showed that Hb Daneshgah- Tehran had haematological indices in normal range, and for the detection of this Hb variant, electrophoresis and PCR sequencing methods should be applied.
کلیدواژه‌های انگلیسی مقاله Alpha-globin, Capillary electrophoresis, Hemoglobin
نویسندگان مقاله | Hossein Jalali
Student Research Committee, Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran


| Mohammad Reza Mahdavi
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran


| Hossein Karami
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
نشانی اینترنتی http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-544-1&slc_lang=en&sid=1
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