Beta-thalassemia unlinked to the beta-globin gene in an English family.
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.
Thein
S L
SL
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Wood
W G
WG
Wickramasinghe
S N
SN
Galvin
M C
MC
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
D009838:Oligodeoxyribonucleotides; D005914:Globins