Mohammad Reza Mahdavi, Nooshin Bayat, Valeh Hadavi, Hosein Karami, Payam Roshan, Hossein Najmabadi, Hamed Rohanizadeh.
Report of haemoglobin J-toronto and alpha thalassemia in a family from north of Iran.
J Pak Med Assoc Jan ;62(4):396-8.

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.

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