Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran
Mahdavi, M.Reza.; Bayat, N.; Hadavi, V.; Karami, H.; Roshan, P.; Najmabadi, H.; Rohanizadeh, H.
Jpma. Journal of the Pakistan Medical Association 62(4): 396-398
2012
ISSN/ISBN: 0030-9982 PMID: 22755290 Document Number: 661680
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 (-alpha3.7). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran.