βthalassemia intermedia in two turkish families is caused by the interaction of HB knossos [β27(b9)ALA→SER] and of HB city of Hope [β69(e13)gly→ser] with b°thalassemia

A. Kutlar, F. Kutlar, M. Aksoy, A. Gurgey, C. Altay, J. B. Wilson, J. C. Diaz-Chico, H. Hu, T. H.J. Huisman

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18 Scopus citations

Abstract

We have studied a few members of two Turkish families, who had a βthalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association with βdeg;thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [β27(B9)Ala→Ser] which occurred together with the frameshift in codon 8 type of βdeg;thalassemia. This compound heterozygosity, observed for the first time in the Turkish population was characterized by a considerable increase in Hb F production, mainly of the Gγ type, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [β69(E13)Gly→Ser] which was present in combination with an unknown type of βthalassemia. The increase in Hb F production in the compound heterozygote was minimal. Reversed phase high performance liquid chromatography and the DNA amplification-synthetic oligonucleotide probe procedure were major tools in identifying the different abnormalities.

Original languageEnglish (US)
Pages (from-to)7-16
Number of pages10
JournalHemoglobin
Volume13
Issue number1
DOIs
StatePublished - 1989

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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