Iranian journal of Pediatric Hematology and Oncology
Iranian journal of Pediatric Hematology and Oncology
Iran J Ped Hematol Oncol
Medical Sciences
http://ijpho.ssu.ac.ir
1
admin
2008-8892
2228-6993
8
7
14
8888
13
en
jalali
1399
4
1
gregorian
2020
7
1
10
3
online
1
fulltext
en
گزارش یک مورد کودک ناقل هموگلوبین دانشگاه تهران در شمال ایران
Hemoglobin Daneshgah-Tehran (HBA1:c.218A>G p.His72Arg): a Rare α1-Globin Variant from Iran
قلب
Heart
گزارش مورد
case report
<div>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.</div>
Alpha-globin, Capillary electrophoresis, Hemoglobin
200
202
http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-544-1&slc_lang=en&sid=1
Hossein
Jalali
Hossein.jalaliakerdi@gmail.com
0000-0002-2605-6227
No
Student Research Committee, Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Student Research Committee, Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Mohammad Reza
Mahdavi
Mahdavi899@gmail.com
0000-0002-1453-5570
Yes
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Hossein
Karami
Hossein.karami@yahoo.com
0000-0001-5804-6712
No
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran