Literature DB >> 508946

Molecular basis of hemoglobin-H disease in the Mediterranean population.

Y W Kan, A M Dozy, G Stamatoyannopoulos, M G Hadjiminas, Z Zachariades, M Furbetta, A Cao.   

Abstract

We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and a "dysfunctional" gene in one. We conclude that the predominant cause of alpha-thalassemia in these populations is gene deletion.

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Year:  1979        PMID： 508946

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  15 in total

1.  Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

Authors:  R V Lebo; R K Saiki; K Swanson; M A Montano; H A Erlich; M S Golbus
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

Review 2.  DNA polymorphism and molecular pathology of the human globin gene clusters.

Authors:  S E Antonarakis; H H Kazazian; S H Orkin
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Genetic and molecular diversity in nondeletion Hb H disease.

Authors:  D R Higgs; L Pressley; B Aldridge; J B Clegg; D J Weatherall; A Cao; M G Hadjiminas; C Kattamis; A Metaxatou-Mavromati; E A Rachmilewitz; T Sophocleous
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

Review 4.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

5.  alpha-Thalassaemia in Sardinian infants.

Authors:  R Galanello; G Diana; M Furbetta; A Angius; M A Melis; C Rosatelli; A Cao
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

6.  Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

Authors:  S H Embury; J A Miller; A M Dozy; Y W Kan; V Chan; D Todd
Journal:  J Clin Invest       Date:  1980-12       Impact factor: 14.808

7.  Haemoglobin Bart's hydrops syndrome in Greece.

Authors:  C Kattamis; A Metaxotou-Mavromati; E Tsiarta; C Metaxatou; P Wasi; W G Wood; L Pressley; D R Higgs; J B Clegg; D J Weatherall
Journal:  Br Med J       Date:  1980-07-26

8.  alpha alpha alpha anti-4.2 Haplotype and heterozygous beta null thalassemia in a Sicilian family.

Authors:  S Acuto; G Butticé; B Saitta; A M Pirrone; R Gambino; C Costa; A Giambona; P Lo Gioco; R Di Marzo; A Maggio
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

Authors:  P Moi; F E Cash; S A Liebhaber; A Cao; M Pirastu
Journal:  J Clin Invest       Date:  1987-11       Impact factor: 14.808

10.  Alpha-globin gene deletion causes alpha-thalassemia syndromes in two German families.

Authors:  J Horst; E U Griese; E Kleihauer; E Kohne
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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