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Different severity of homozygous β-thalassemia among siblings

✍ Scribed by P. Winichagoon; S. Fucharoen; V. Thonglairoam; P. Wasi

Book ID
104703987
Publisher
Springer
Year
1987
Tongue
English
Weight
172 KB
Volume
76
Category
Article
ISSN
0340-6717

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✦ Synopsis

Different degrees of severity of anemia are presented in three siblings with homozygous beta-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 alpha-thalassemia-2 genes in II-3 and II-4 and no alpha-thalassemia-2 haplotype in II-1. Furthermore, II-4, who is mildly affected, is homozygous for alpha-thalassemia-2 whereas II-3 is an alpha-thalassemia-2 heterozygote. These observations indicate that concomitant inheritance of alpha-thalassemia can decrease the severity of beta-thalassemia.

📜 SIMILAR VOLUMES

Determination for different severity of
Determination for different severity of anemia in thalassemia: Concordance and discordance among sib pairs
✍ Fucharoen, Suthat ;Winichagoon, Pranee ;Pootrakul, Pensri ;Wasi, Prawase 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 336 KB

The degree of anemia in p'-thalassemia/hemoglobin E disease is highly variable. As part of an attempt to identify determinants of this variability of severity we studied concordance and discordance of hemoglobin levels among sib pairs. The distribution of differences of hemoglobin levels in 216 sib