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

Annals of the Rheumatic Diseases

Volume 4 - Number

Article Type: ---- Unspecified ----

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.