Report of Haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran

被引：0

作者：

Mahdavi, Mohammad Reza ^{[1
]}

Bayat, Nooshin

Hadavi, Valeh

Karami, Hosein

Roshan, Payam

Najmabadi, Hossein

Rohanizadeh, Hamed

机构：

[1] Mazandaran Univ Med Sci, Thalassemia Res Ctr, Sari, Iran

来源：

JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION | 2012年 / 62卷 / 04期

关键词：

Haemoglobin J variant; -globin gene; Rare mutation; Northern Iran; VARIANT;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report of an Iranian family with history of a rare haemoglobin variant, Haemoglobin J associated with alpha thalassemia, discovered while performing premarital thalassemia screening. In the present study we report the first case of haemoglobin J-Toronto [alpha 5 (A3) Ala>Aspi on -globin gene, found in a 16-year-old female from Mazandaran Province, North of Iran. Further investigation characterized the same mutation for mother and brother of the proband, whilst mother was also a carrier of an alpha thalassemia gene mutation (-alpha(3.7)). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran.

引用

页码：396 / 398

页数：3