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Digitale Medien

Different severity of homozygous β-thalassemia among siblings (1987)

Winichagoon, P. ; Fucharoen, S. ; Thonglairoam, V. ; [weitere]

Springer

Human genetics 〈Berlin〉 76 (1987), S. 296-297

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: Summary 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00283628

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