Volume 10, Issue 3 (7-2020)                   Iran J Ped Hematol Oncol 2020, 10(3): 200-202 | Back to browse issues page

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Jalali H, Mahdavi M R, Karami H. Hemoglobin Daneshgah-Tehran (HBA1:c.218A>G p.His72Arg): a Rare α1-Globin Variant from Iran. Iran J Ped Hematol Oncol. 2020; 10 (3) :200-202
URL: http://ijpho.ssu.ac.ir/article-1-337-en.html
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Abstract:   (30 Views)
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.
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Type of Study: case report | Subject: Special
Received: 2017/09/10 | Accepted: 2019/12/28 | Published: 2020/07/20

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