Author/Authors :
Mahdavi, Mohammad Reza mazandaran university of medical sciences - Thalassemia Research Center, ايران , Mahdavi, Mohammad Reza Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Bayat, Nooshin mazandaran university of medical sciences - Thalassemia Research Center, ايران , Bayat, Nooshin Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Hadavi, Valeh mazandaran university of medical sciences - Thalassemia Research Center, ايران , Hadavi, Valeh Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Karami, Hosein mazandaran university of medical sciences - Thalassemia Research Center, ايران , Karami, Hosein Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Roshan, Payam mazandaran university of medical sciences - Thalassemia Research Center, ايران , Roshan, Payam Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Najmabadi, Hossein mazandaran university of medical sciences - Thalassemia Research Center, ايران , Najmabadi, Hossein Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران , Rohanizadeh, Hamed mazandaran university of medical sciences - Thalassemia Research Center, ايران , Rohanizadeh, Hamed Kariminejad-Najmabadi Pathology Genetics Center - Molecular Diagnostic Division, ايران
Abstract :
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 Asp] 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 (-a3.7). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran
Keywords :
Haemoglobin J variant , , globin gene , Rare mutation , Northern Iran
