title: Recessive congenital methemoglobinemia in immediate generations.
abstract: We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.
authors.affiliation: Division of Hematology, Department of Pediatrics, Gazi University, Faculty of Medicine, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
authors.affiliation: Division of Hematology, Department of Internal Medicine, Gazi University, Faculty of Medicine, Ankara, Turkey.
authors.forename: Gülsan
authors.initials: G
authors.lastname: Türköz-Sucak
authors.affiliation: Centre for Cancer Research and Cell Biology (CCRCB), Queen's University Belfast, Belfast, United Kingdom.
authors.forename: Melanie Joan
authors.initials: MJ
authors.lastname: Percy
mesh_terms: D000293:Adolescent; D042966:Cytochrome-B(5) Reductase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D014421:Turkey
chemical_list: C583417:CYB5R3 protein, human; D042966:Cytochrome-B(5) Reductase
keywords: Arg50Gln mutation; Turkish patient; immediate generations; recessive congenital methemoglobinemia