Beta-thalassemia unlinked to the beta-globin gene in an English family
SL Thein, WG Wood, SN Wickramasinghe and MC Galvin
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington,
Oxford, UK.
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.
Volume 82,
Issue 3,
pp. 961-967,
08/01/1993
Copyright © 1993 by The American Society of Hematology