Publication: Different severity of homozygous β-thalassemia among siblings
Issued Date
1987-07-01
Resource Type
ISSN
14321203
03406717
03406717
Other identifier(s)
2-s2.0-0023192479
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Mahidol University
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SCOPUS
Bibliographic Citation
Human Genetics. Vol.76, No.3 (1987), 296-297
Suggested Citation
P. Winichagoon, S. Fucharoen, V. Thonglairoam, P. Wasi Different severity of homozygous β-thalassemia among siblings. Human Genetics. Vol.76, No.3 (1987), 296-297. doi:10.1007/BF00283628 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/15316
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Title
Different severity of homozygous β-thalassemia among siblings
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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.