An indonesian family with the southeast asian type of α-thalassemia-1 and a γ-globin gene triplication

S. Daenen, A. L. Reese, F. Kutlar, T. Huisman

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Detailed hematological and fetal hemoglobin data as well as results from gene mapping analyses are reported for nine members of an Indonesian-Dutch family. An a-thalassemia-1 heterozygosity (Southeast Asian type) was present in five subjects and a y-globin gene triplication of the type -Gγ-Gγ-Aγ in three; the propositus and one of her daughters had both conditions. Comparison of gene mapping data with quantitative results of the fetal hemoglobin analyses provided an explanation for the slight increases in fetal hemoglobin levels and for the extremely highGγ levels of this fetal hemoglobin.

Original languageEnglish (US)
Pages (from-to)23-27
Number of pages5
JournalActa Haematologica
Volume78
Issue number1
DOIs
StatePublished - Jan 1 1987

Keywords

  • <sup>G</sup>γ and<sup>A</sup>γ chains
  • Gene mapping
  • Haplotypes
  • Hb F
  • Restriction enzymes
  • α-Thalassemia
  • γ-Globin gene triplication

ASJC Scopus subject areas

  • Hematology

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