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

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

Research output: Contribution to journalArticle

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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

Fingerprint

Thalassemia
Oligonucleotide Probes
Sickle Cell Anemia
Haplotypes
Mutation
DNA
Chromosomes
Blood
Codon
Benin
Frameshift Mutation
beta-Thalassemia
DNA Sequence Analysis
Blood Transfusion
Anemia

ASJC Scopus subject areas

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

Cite this

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

βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians. / Fattoum, S.; Guemira, F.; Öner, C.; Öner, R.; Li, H. W.; Kutlar, Ferdane; Huisman, T. H.J.

In: Hemoglobin, Vol. 15, No. 1-2, 01.01.1991, p. 11-21.

Research output: Contribution to journalArticle

Fattoum, S, Guemira, F, Öner, C, Öner, R, Li, HW, Kutlar, F & Huisman, THJ 1991, 'βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians', Hemoglobin, vol. 15, no. 1-2, pp. 11-21. https://doi.org/10.3109/03630269109072481
Fattoum S, Guemira F, Öner C, Öner R, Li HW, Kutlar F et al. βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians. Hemoglobin. 1991 Jan 1;15(1-2):11-21. https://doi.org/10.3109/03630269109072481
Fattoum, S. ; Guemira, F. ; Öner, C. ; Öner, R. ; Li, H. W. ; Kutlar, Ferdane ; Huisman, T. H.J. / βthalassemia, HB s-βthalassemia and sickle cell anemia among tunisians. In: Hemoglobin. 1991 ; Vol. 15, No. 1-2. pp. 11-21.
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