Analysis of alpha-thalassemia syndromes in several German families revealed DNA deletion as well as non-deletion forms as the molecular basis for the defects. Thus, the alpha-thalassemia haplotype was identified as the (-alpha)3.7 rightward deletion form, and the region of the putative recombination
Diversity of α-globin mutations and clinical presentation of α-thalassemia in Israel
✍ Scribed by Varda Oron-Karni; Dvora Filon; Yulia Shifrin; Elchanan Fried; Galina Pogrebijsky; Ariella Oppenheim; Deborah Rund
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 62 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Restriction enzyme analysis of the a and { globin genes was carried out in four cases of Hb Bart's hydrops fetalis, in three patients with Hb H disease without Hb CoSp, in three patients with Hb H disease with Hb CoSp, in 47 individuals with a thalassemia trait, and in 47 normal individuals. All fou
Several different deletions underlie the molecular basis of a-thalassemia. The most common a-thalassemia determinant in Spain is the rightward deletion (-a".'). To our knowledge, however, no cases of a-thalassemia due to nondeletional mutations have so far been described in this particular Mediterra
a-Thalassemia is usually due to deletions within the a-globin gene cluster, leading to loss of function of one ( -U ) or both [ -( a ) or --I a-globin genes. Nondeletion mutations (denoted a m T or a' . ) are less frequent and in Greece are not well defined. We report the analysis of 16 nondeletion