title: Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family.
abstract: We have identified a rare alpha2-globin chain variant, Hb Sallanches [alpha104(G11) Cys-->Tyr], in a Pakistani family having three homozygous patients with transfusion-dependent Hb H disease. This variant, previously reported in a French patient and a West Indian homozygous patient with Hb H disease, is due to a mutation at codon 104 (TGC-->TAC). This is the third case of Hb Sallanches and the first case with three homozygous patients reported in Pakistan. Due to the different ethnic origins of the patients, it is very likely an independent mutation.
authors.affiliation: Centre for Applied Molecular Biology, University of the Punjab Thokar Niaz Baig, Lahore, Pakistan. direct@paknet4.ptc.pk
authors.forename: S N
authors.initials: SN
authors.lastname: Khan
authors.forename: F I
authors.initials: FI
authors.lastname: Butt
authors.forename: S
authors.initials: S
authors.lastname: Riazuddin
authors.forename: R
authors.initials: R
authors.lastname: Galanello
mesh_terms: D019943:Amino Acid Substitution; D001803:Blood Transfusion; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006456:Hemoglobinuria / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010154:Pakistan / Q000453:epidemiology / Q000208:ethnology; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013163:Splenomegaly; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C406703:hemoglobin Sallanches; D005914:Globins; D006447:Hemoglobin H