Homozygous deletional α+thalassaemia associated with unequal expression of the two remaining α1genes (α1Aand α1Q)

1 September 1982

journal article
research article
Published by Wiley in British Journal of Haematology

Vol. 52 (1) , 115-125
https://doi.org/10.1111/j.1365-2141.1982.tb03868.x

Abstract

Summary. A Cambodian family presenting several haemoglobinopathies, Hb E, Hb Q and α⁺ thalassaemia, has been investigated. DNA analysis showed that the thalassaemia syndrome corresponds to a leftward type (4.2 kb) deletional from of α⁺ thalassaemia. Genotypes found in the family are: propositus -α^A/-α^Q, β^A/β^E, mother and older sister α^Aα^A/ -α^Q, β^A/β^E; father α^Aα^A/-α^A, β^A/β^A. The propositus consistently presents an α^Q/α^A chain ratio of 60/40 although both chains are products of α₁ loci. The relatively higher expression of the α^Q chain is not observed in the mother and therefore makes it unlikely to reflect anything other than differential expression of the maternal -α^Q/ and paternal -α^A/ haplotypes. This observation raises the possibility that both haplotypes are not strictly identical and that the region of the cross-over event is important for α gene expression.

This publication has 26 references indexed in Scilit:

Detection of specific sequences among DNA fragments separated by gel electrophoresis
Published by Elsevier ,2006
The duplicated human α-globin genes: Their relative expression as measured by RNA analysis
Cell, 1981
The molecular basis of α-thalassemias: Frequent occurrence of dysfunctional α loci among non-Asians with Hb H disease
Cell, 1979
Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci
Nature, 1975
Solid phase sequencing: A new support for the high sensitivity degradation of peptides and proteins
FEBS Letters, 1975
Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)
Nature, 1974
Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion
Nature, 1974
DIFFERENT TYPES OF ALPHA-THALASSÆMIA AND SIGNIFICANCE OF HÆMOGLOBIN BART'S IN NEONATES
The Lancet, 1970
Abnormal human haemoglobins: Separation and characterization of the α and β chains by chromatography, and the determination of two new variants, Hb chesapeake and Hb J (Bangkok)
Journal of Molecular Biology, 1966
Rapid electrophoresis and quantitation of haemoglobins on cellulose acetate
Journal of Clinical Pathology, 1965