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α-Globin loci in homozygous β-thalassemia intermedia

✍ Scribed by P. Triadou; C. Lapoumeroulie; R. Girot; D. Labie

Book ID
104697912
Publisher
Springer
Year
1983
Tongue
English
Weight
279 KB
Volume
63
Category
Article
ISSN
0340-6717

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✦ Synopsis

Homozygous beta-thalassemia intermediate (TI) differs from thalassemia major (TM) in being less severe clinically. Associated alpha-thalassemia could account for the TI phenotype by reducing the alpha/non-alpha chain imbalance. We have analyzed the alpha loci of 9 TI and 11 TM patients by restriction endonuclease mapping. All the TM and 7 of the TI patients have the normal complement of four alpha-globin genes (alpha alpha/alpha alpha). One TI patient has three alpha-globin genes (alpha alpha/-alpha), and another TI patient has five alpha genes (alpha alpha/alpha alpha alpha).

📜 SIMILAR VOLUMES

α°- and β°- Thalassemia in a Thai family
α°- and β°- Thalassemia in a Thai family: unusually mild homozygous β°-thalassemia without α-globin gene deletion
✍ P. Yenchitsomanus; K. M. Summers 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 257 KB

Alpha-globin genes were analyzed by the direct method of DNA mapping using alpha- and zeta-globin specific probes in a Thai family in which the proposita was an unusually mild beta zero-thalassemia homozygote. alpha zero-Thalassemia was found to be segregating in the family, inherited from the propo