Hemoglobin H Disease from Algeria: Genetic and Molecular Characterization
作者:
P. Tabone,
T. Henni,
M. Belhani,
P. Colonna,
G. Verdier,
J. Godet,
期刊:
Acta Haematologica
(Karger Available online 1981)
卷期:
Volume 65,
issue 1
页码: 26-31
ISSN:0001-5792
年代: 1981
DOI:10.1159/000207145
出版商: S. Karger AG
关键词: Algeria;Genetic;Globin biosynthetic ratio;Globin gene titration;HB H disease;α-Thalassemia
数据来源: Karger
摘要:
A case of Hb H disease from Algeria was studied at the genetic and molecular level in order to delineate the pattern of α-thalassemia in the Mediterranean population. The family study indicated that both parents had the hematological and clinical manifestation of α-thalassemia trait and that the affected sibling had homozygous α-thalassemia with 5.6% Hb H, microcytosis and an α-/non-α-biosynthetic ratio of 0.64. Hybridization in globin cDNAα excess suggested that the molecular defect responsible for this form of α-thalassemia is a partial deletion of the haploid stock of α-globin genes. The Algerian case of Hb H disease studied thus differs from Asian and Negro cases by the mode of inheritance of the α-thalassemia mutation
点击下载:
PDF
(1690KB)
返 回