Literature DB >> 1878422

A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication.

K Indrak1, Y J Fei, H W Li, E Baysal, V Brabec, H Fortova, J Cermak, T H Huisman.   

Abstract

We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.

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Year:  1991        PMID： 1878422     DOI： 10.1007/bf01714960

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


  12 in total

1.  Fetal hemoglobin in normal adults and beta-thalassemia heterozygotes.

Authors:  A Kutlar; F Kutlar; L G Gu; S M Mayson; T H Huisman
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

2.  Hb E [beta 26(B8)Glu----Lys] in a Czechoslovakian family.

Authors:  H Fortová; J Suttnar; V Brabec; M Pavlík; O Hrodek
Journal:  Hemoglobin       Date:  1991       Impact factor: 0.849

3.  Hemoglobin E trait reexamined: a cause of microcytosis and erythrocytosis.

Authors:  V F Fairbanks; G S Gilchrist; B Brimhall; J A Jereb; E C Goldston
Journal:  Blood       Date:  1979-01       Impact factor: 22.113

4.  A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with "silent" beta-thalassemia.

Authors:  J M Gonzalez-Redondo; T A Stoming; A Kutlar; F Kutlar; K D Lanclos; E F Howard; Y J Fei; M Aksoy; C Altay; A Gurgey
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

5.  High-performance liquid chromatographic separation of human haemoglobins. Simultaneous quantitation of foetal and glycated haemoglobins.

Authors:  E Bisse; H Wieland
Journal:  J Chromatogr       Date:  1988-12-29

6.  Haplotypes among Vietnamese hemoglobin E homozygotes including one with a gamma-globin gene triplication.

Authors:  T Nakatsuji; A Kutlar; F Kutlar; T H Huisman
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

7.  [Beta thalassemia in Czech families].

Authors:  V Brabec; J Borová; H Fortová; O Hrodek; J Neuwirt; R Neuwirtová; E Syrist'ová
Journal:  Vnitr Lek       Date:  1988-10

8.  Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.

Authors:  H H Kazazian; P G Waber; C D Boehm; J I Lee; S E Antonarakis; V F Fairbanks
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

9.  The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes.

Authors:  A E Felice; M P Cleek; K McKie; V McKie; T H Huisman
Journal:  Blood       Date:  1984-05       Impact factor: 22.113

10.  Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.

Authors:  J M Gonzalez-Redondo; T A Stoming; K D Lanclos; Y C Gu; A Kutlar; F Kutlar; T Nakatsuji; B Deng; I S Han; V C McKie
Journal:  Blood       Date:  1988-09       Impact factor: 22.113
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