𝔖 Bobbio Scriptorium
✦   LIBER   ✦

α-Globin gene deletion causes α-thalassemia syndromes in two German families

✍ Scribed by Jürgen Horst; Ernst-Ulrich Griese; Enno Kleihauer; Elisabeth Kohne

Publisher
Springer
Year
1984
Tongue
English
Weight
331 KB
Volume
68
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

Restriction endonuclease mapping of chromosomal DNA has been used to determine whether the alpha-globin gene deletion or non-deletion form of alpha-thalassemia is the underlying molecular defect in individuals of two unrelated German families with alpha-thalassemia syndromes. The obtained DNA pattern in all cases indicated loss of alpha-globin genes resulting in -alpha/alpha alpha, --/alpha alpha, and --/-alpha genotypes in alpha-thalassemia-2, alpha-thalassemia-1, and Hb H individuals respectively. The chromosomes showing loss of one alpha-globin gene in alpha-thalassemia-2 and Hb H disease were characterized by the so-called rightward deletion form exhibiting loss of a 3.7 kb DNA fragment in the alpha-gene cluster.

📜 SIMILAR VOLUMES

Heterogeneity of the α-globin gene defec
Heterogeneity of the α-globin gene defects in German α-thalassemia affected families
✍ E. -U. Griese; Elisabeth Kohne; J. Horst 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 404 KB

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

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

α-Globin gene deletions associated with
α-Globin gene deletions associated with αAand αG Philadelphiagenes in an Algerian family that includes two Hb G homozygotes
✍ F. Morle; P. Jaccoud; E. Dorleac; M. Motta; J. Delaunay; J. Godet 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 786 KB

An Algerian family with a high degree of consanguinity and including two homozygotes for Hb-G Philadelphia is presented. Whether homozygotes or heterozygotes, all subjects displayed microcytosis (with various degrees of poikilocytosis) and a moderately depressed alpha-globin chain synthesis. Hb H an