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Title: Different severity of homozygous β-thalassemia among siblings
Authors: P. Winichagoon
S. Fucharoen
V. Thonglairoam
P. Wasi
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Jul-1987
Citation: Human Genetics. Vol.76, No.3 (1987), 296-297
Abstract: Different degrees of severity of anemia are presented in three siblings with homozygous β-thalassemia. II-1, the most severely affected one, is splenectomized and needs frequent blood transfusion, while II-4 has mild anemia and never receives transfusion. II-3 has moderate anemia and mild jaundice and hepatosplenomegaly. Restriction endonuclease DNA mapping revealed the α-thalassemia-2 genes in II-3 and II-4 and no α-thalassemia-2 haplotype in II-1. Furthermore, II-4, who is mildly affected, is homozygous for α-thalassemia-2 whereas II-3 is an α-thalassemia-2 heterozygote. These observations indicate that concomitant inheritance of α-thalassemia can decrease the severity of β-thalassemia. © 1987 Springer-Verlag.
ISSN: 14321203
Appears in Collections:Scopus 1969-1990

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