We determined by restriction mapping the frequency of the -alpha 3.7 determinant in a random sample of 48 adults in Northern Sardinia. We found a frequency of 0.18 +/- 0.04 and demonstrated that only type I crossover as determined by Apa I digestion (Higgs et al. 1984) is present. Moreover, we showe
Frequency and molecular types of deletional α-thalassemia in Egypt
✍ Scribed by Andrea Novelletto; Mohammad Hafez; Ann Rienzo; Luciano Felicetti; Giancarlo Deidda; Zacharias Morsi; Youssef Al-Tonbary; Magdi El-Ziny; Nawal Abd-El-Gelil; Luciano Terrenato
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 317 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0340-6717
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## Abstract Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of α globin gene deletions was studied in the β‐thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for α^−3.7 kb^ deletions. N
Alagille syndrome is an autosomal dominant disorder comprising cholestasis (associated with intrahepatic bile duct paucity), characteristic facial appearance, and cardiac, ocular and skeletal defects. Multiple patients have been reported with deletions or translocation involving 20p11.23-p12, provid