β-Thalassemia Unlinked to the β-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 β-thalassemia, ie, elevated levels of hemoglobin A2 and imbalanced globin chain synthesis. However, despite ex...

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Bibliographic Details
Published in:Blood 1993-08, Vol.82 (3), p.961-967
Main Authors: Thein, S.L., Wood, W.G., Wickramasinghe, S.N., Galvin, M.C.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemias. Hemoglobinopathies
Base Sequence
beta-Thalassemia - genetics
beta-Thalassemia - pathology
Biological and medical sciences
Bone Marrow - pathology
Child
Child, Preschool
Diseases of red blood cells
Female
Genetic Linkage
Globins - genetics
Hematologic and hematopoietic diseases
Humans
Male
Medical sciences
Middle Aged
Molecular Sequence Data
Oligodeoxyribonucleotides - chemistry
Pedigree
Polymorphism, Restriction Fragment Length
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Summary: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 β-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 β-globin genes of either the propositus or two other affected members from two different generations. Linkage analysis using restriction fragment length polymorphisms in the β-globin gene cluster clearly showed that the gene responsible for the β-thalassemia phenotype segregates independently of the β-gene complex. Therefore, this condition represents a novel form of the disease.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V82.3.961.961