Literature DB >> 6308057

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

M Pirastu, Y W Kan, C C Lin, R M Baine, C T Holbrook.   

Abstract

We describe a new type of gamma delta beta-thalassemia in four generations of a family of Scotch-Irish descent. The proposita presented with hemolytic disease of the newborn, which was characterized by a microcytic anemia. Initial restriction endonuclease analysis of the DNA showed no grossly abnormal patterns, but studies of polymorphic restriction sites and gene dosage revealed an extensive deletion that removed all the beta- and beta-like globin genes from the affected chromosome. In situ hybridization of chromosome preparations with radioactive beta-globin gene probes showed that only one 11p homolog contained the beta-globin gene cluster in the affected family members.

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Year:  1983        PMID: 6308057      PMCID: PMC1129218          DOI: 10.1172/JCI111008

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  22 in total

1.  Chromosomal localization of human beta globin gene on human chromosome 11 in somatic cell hybrids.

Authors:  A Deisseroth; A Nienhuis; J Lawrence; R Giles; P Turner; F H Ruddle
Journal:  Proc Natl Acad Sci U S A       Date:  1978-03       Impact factor: 11.205

2.  Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis.

Authors:  R V Lebo; A V Carrano; K Burkhart-Schultz; A M Dozy; L C Yu; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

3.  Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease.

Authors:  S Ottolenghi; B Giglioni; P Comi; A M Gianni; E Polli; C T Acquaye; J H Oldham; G Masera
Journal:  Nature       Date:  1979-04-12       Impact factor: 49.962

4.  Gamma-beta thalassemia: a cause of hemolytic disease of the newborn.

Authors:  Y W Kan; B G Forget; D G Nathan
Journal:  N Engl J Med       Date:  1972-01-20       Impact factor: 91.245

5.  Quinacrine fluorescence and Q-banding patterns of human chromosomes. I. Effects of varying factors.

Authors:  C C Lin; H van de Sande; W K Smink; D R Newton
Journal:  Can J Genet Cytol       Date:  1975-03

6.  Characterisation of deletions which affect the expression of fetal globin genes in man.

Authors:  E F Fritsch; R M Lawn; T Maniatis
Journal:  Nature       Date:  1979-06-14       Impact factor: 49.962

7.  Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.

Authors:  Y W Kan; K Y Lee; M Furbetta; A Angius; A Cao
Journal:  N Engl J Med       Date:  1980-01-24       Impact factor: 91.245

8.  Globin chain synthesis in the alpha thalassemia syndromes.

Authors:  Y W Kan; E Schwartz; D G Nathan
Journal:  J Clin Invest       Date:  1969-11       Impact factor: 14.808

9.  gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.

Authors:  L H Van der Ploeg; A Konings; M Oort; D Roos; L Bernini; R A Flavell
Journal:  Nature       Date:  1980-02-14       Impact factor: 49.962

10.  DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man.

Authors:  A J Jeffreys
Journal:  Cell       Date:  1979-09       Impact factor: 41.582

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  6 in total

Review 1.  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

Review 2.  Erythrocyte disorders in the perinatal period.

Authors:  Laurie A Steiner; Patrick G Gallagher
Journal:  Semin Perinatol       Date:  2007-08       Impact factor: 3.300

3.  Localization of the beta-globin gene by chromosomal in situ hybridization.

Authors:  C C Morton; I R Kirsch; R Taub; S H Orkin; J A Brown
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

4.  A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Authors:  P Curtin; M Pirastu; Y W Kan; J A Gobert-Jones; A D Stephens; H Lehmann
Journal:  J Clin Invest       Date:  1985-10       Impact factor: 14.808

5.  Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Authors:  M C Driscoll; C S Dobkin; B P Alter
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

6.  Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient.

Authors:  Ilaria Fotzi; Francesco Pegoraro; Elena Chiocca; Tommaso Casini; Massimo Mogni; Marinella Veltroni; Claudio Favre
Journal:  Front Pediatr       Date:  2022-03-17       Impact factor: 3.418

  6 in total

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