βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians

S. Fattoum, F. Guemira, C. Öner, R. Öner, H. W. Li, F. Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticle

51 Scopus citations

Abstract

We analyzed the mutations present in 19 patients with βthal-assemia major, in 11 patients with Hb S-βthalassemia, and the Bs haplotypes of 34 patients with sickle cell anemia. The study included 84 relatives. Dot-blot analysis of amplified DNA with various specific oligonucleotide probes identified 11 different known βthalassemia mutations and frameshifts; a new frameshift at codons 25/26 (+T) was detected through sequencing of amplified DNA. The common βthalassemia mutations at codon 39 (C→T) and at IVS-I-110 (G→A) were also most prevalent among the Tunisian patients, while the milder T→C mutation at IVS-I-6 was not found. All mutations cause a Bd̀-thalassemia or a severe B+-thalassemia [T→A at -30; IVS-I-5 (G→A); IVS-I-110 (G→A)] which explains the need for regular blood transfusions in the thalassemia major and S-βthalassemia patients. Nearly all sickle cell anemia patients carried the βs mutation on a chromosome with haplotype 19 (or Benin) and all had severe anemia with sickling complications. Identification of the βS haplotype was through dot-blot analysis with oligonucleotide probes that detect mutations in the Gγ and Aγ promoter sequences, specific for this haplotype.

Original languageEnglish (US)
Pages (from-to)11-21
Number of pages11
JournalHemoglobin
Volume15
Issue number1-2
DOIs
StatePublished - Jan 1 1991

ASJC Scopus subject areas

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

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    Fattoum, S., Guemira, F., Öner, C., Öner, R., Li, H. W., Kutlar, F., & Huisman, T. H. J. (1991). βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians. Hemoglobin, 15(1-2), 11-21. https://doi.org/10.3109/03630269109072481