Please use this identifier to cite or link to this item:
|Title:||Different severity of homozygous β-thalassemia among siblings|
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine|
|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.|
|Appears in Collections:||Scopus 1969-1990|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.