title: Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran.
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 (-alpha3.7). Haemoglobin J-Toronto was previously just reported from Canada and has not been found in any part of Iran.
authors: Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
authors: Mohammad Reza
authors: MR
authors: Mahdavi
authors: Nooshin
authors: N
authors: Bayat
authors: Valeh
authors: V
authors: Hadavi
authors: Hosein
authors: H
authors: Karami
authors: Payam
authors: P
authors: Roshan
authors: Hossein
authors: H
authors: Najmabadi
authors: Hamed
authors: H
authors: Rohanizadeh
mesh_terms: D005260:Female; D006448:Hemoglobin J / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006448:Hemoglobin J