title: Beta-thalassemia unlinked to the beta-globin gene in an English family.
abstract: An inherited hypochromic microcytic anemia transmitted in an autosomal manner has been observed in three generations of an English family. Affected members had the hallmarks of heterozygous beta-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite extensive sequence analysis, no mutations could be found in or around the beta-globin genes of either the propositus or two other affected members from two different generations. Linkage analysis using restriction fragment length polymorphisms in the beta-globin gene cluster clearly showed that the gene responsible for the beta-thalassemia phenotype segregates independently of the beta-gene complex. Therefore, this condition represents a novel form of the disease.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
authors.forename: W G
authors.initials: WG
authors.lastname: Wood
authors.forename: S N
authors.initials: SN
authors.lastname: Wickramasinghe
authors.forename: M C
authors.initials: MC
authors.lastname: Galvin
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D009838:Oligodeoxyribonucleotides; D005914:Globins