...P. Tabone; T. Henni; M. Belhani; P. Colonna; G. Verdier; J. Godet 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...

...Ahnond Bunyaratvej; Somphong Sahaphong; Natth Bhamarapravati; Prawase Wasi Electron microscopic examination of intraerythrocytic inclusion bodies induced by methylene blue was carried out in 7 non-splenectomized patients with haemoglobin (Hb) H disease. In classical Hb H disease with the genotype...

...Chung King Li; Hong Wen Peng; Chao Hung Ho; Chien Hui Yung Two Chinese patients with hemoglobin (Hb) H disease without a history of blood transfusion developed iron overload at the age of 45 and 53 years, respectively. Human leukocyte antigen (HLA) system types of these 2 patients were A19, A11...

... by an ∼23-kb deletion involving the ψζ, ψα2, ψαl, α2, α1, and θl genes, was present in 13 members [6 simple heterozygotes, 5 with Hb H disease of the ∼(S A)/-α(-3.7 kb) type, and 2 with Hb H disease of the --(SA)/-α(-4.2 kb) type]. Seven others were heterozygotes for α-thalassemia-2 (-3.7 kb), 1...

... ), leftward deletion (-α 4.2 ) or nondeletion forms of the Hb H disease. For the nondeletion form, a natural restriction site of Mse lwas used to detect the Hb Constant Spring (Hb CS) or other termination codon mutations. Another naturally occurring restriction site of Msp lwas used to detect the Hb Quong-Sze...

... of Hb Bart’s (16.6%) reflecting a mild form of Hb H disease. © 1995 S. Karger AG, Basel 1995 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic...

..., and the haplotypes of 18 β s chromosomes from patients followed in three hospitals in Kuwait. Of the 30 chromosomes from 15 patients with Hb H disease, 26 (86.7%) carried the polyadenylation (poly A) signal mutation (AATAAA→AATAAG) in the α 2 -globin gene, 3 (10%) had the -α (3.7 kb) deletion, and 1 (3.3%) had...

...You-Jun Fei; Reyhan Öner; Gulsen Bözkurt; Li-Hao Gu; Çigdem Altay; Aytemiz Gurgey; Slaheddine Fattoum; Erol Baysal; Titus H.J. Huisman We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAA A → AATAA G ) and have compared their hematological...

...Supap Boonsa; Kanokwan Sanchaisuriya; Goonnapa Fucharoen; Surapon Wiangnon; Arunee Jetsrisuparb; Supan Fucharoen We defined the molecular basis and correlated the hematological phenotypes with the globin genotypes in 52 patients with Hb H disease and 29 patients with AEBart’s disease of northeast...