Hematological phenotype of the IVS-I-5 (G > C) β-thalassemia mutation and assessment of Iran's national screening criteria

Peyman Eshghi, Armin Rashidi, Azita Zadeh-Vakili, Ebrahim Miri-Moghadam

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

In a recent study, we demonstrated that, in the Iranian province of Sistan-Baluchestan (S-B), the IVS-I-5 (G > C) β-thalassemia (β-thal) mutation is highly prevalent. In the present article we report the hematological phenotype as measured in 289 carriers of this mutation. We evaluate the use of MCV and MCH parameters as proposed in Iran's national screening guidelines for use in this province. The Hb A2 cut off of 3.5%, also recommended in the national guidelines, gave 2.7% false negative, as is to be expected due to coexisting elements such as measurement artefacts and δ-thal.

Original languageEnglish (US)
Pages (from-to)440-445
Number of pages6
JournalHemoglobin
Volume32
Issue number5
DOIs
StatePublished - Sep 2008

Keywords

  • IVS-I-5 (G > C) mutation
  • Phenotype/genotype
  • Screening
  • β-Thalassemia

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