Literature DB >> 7427238

Haemoglobin Bart's hydrops syndrome in Greece.

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.   

Abstract

A case of haemoglobin Bart's hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in cases in south-east Asia, and analysis of DNA from the Greek case confirmed the total deletion of the alpha-chain genes. The extent of the deletion, however, differed from that seen in south-east Asian cases and included the loss of one of the embryonic zeta-chain genes. Thus the severe form of alpha-thalassaemia occurs in Greece but has arisen independently from the similar condition in south-east Asia. The condition must be considered in any woman of this racial background who gives a history of unexplained stillbirths.

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Year:  1980        PMID: 7427238      PMCID: PMC1713863          DOI: 10.1136/bmj.281.6235.268

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


  11 in total

1.  K562 human leukaemic cells synthesise embryonic haemoglobin in response to haemin.

Authors:  T R Rutherford; J B Clegg; D J Weatherall
Journal:  Nature       Date:  1979-07-12       Impact factor: 49.962

2.  Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis).

Authors:  J M Taylor; A Dozy; Y W Kan; H E Varmus; L E Lie-Injo; J Ganesan; D Todd
Journal:  Nature       Date:  1974-10-04       Impact factor: 49.962

3.  The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion.

Authors:  S Ottolenghi; W G Lanyon; J Paul; R Williamson; D J Weatherall; J B Clegg; J Pritchard; S Pootrakul; W H Boon
Journal:  Nature       Date:  1974-10-04       Impact factor: 49.962

4.  Hemoglobins in human fetuses: evidence for adult hemoglobin production after the 11th gestational week.

Authors:  H A Pataryas; G Stamatoyannopoulos
Journal:  Blood       Date:  1972-05       Impact factor: 22.113

5.  The genetical interpretation of haemoglobin H disease.

Authors:  C Kattamis; H Lehmann
Journal:  Hum Hered       Date:  1970       Impact factor: 0.444

6.  The pattern of disordered haemoglobin synthesis in homozygous and heterozygous beta-thalassaemia.

Authors:  D J Weatherall; J B Clegg; S Na-Nakorn; P Wasi
Journal:  Br J Haematol       Date:  1969-03       Impact factor: 6.998

7.  The duplicated human alpha globin genes lie close together in cellular DNA.

Authors:  S H Orkin
Journal:  Proc Natl Acad Sci U S A       Date:  1978-12       Impact factor: 11.205

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

Authors:  Y W Kan; A M Dozy; G Stamatoyannopoulos; M G Hadjiminas; Z Zachariades; M Furbetta; A Cao
Journal:  Blood       Date:  1979-12       Impact factor: 22.113

9.  Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassaemia.

Authors:  R S Sharma; V Yu; W A Walters
Journal:  Med J Aust       Date:  1979-10-20       Impact factor: 7.738

10.  The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

Authors:  J Lauer; C K Shen; T Maniatis
Journal:  Cell       Date:  1980-05       Impact factor: 41.582

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  2 in total

Review 1.  An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Authors:  Duantida Songdej; Christian Babbs; Douglas R Higgs
Journal:  Blood       Date:  2017-01-05       Impact factor: 22.113

2.  Prenatal diagnosis of homozygous alpha thalassaemia by direct DNA analysis of uncultured amniotic fluid cells.

Authors:  V Chan; A Ghosh; T K Chan; V Wong; D Todd
Journal:  Br Med J (Clin Res Ed)       Date:  1984-05-05
  2 in total

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