First reported case of compound heterozygosity for HbA2-Yialousa (HBD: C.82 G>C) and HbA2-Wrens (HBD: C.295 G>A) in Oman

Shoaib Al Zadjali, Wafa Bashir, David Gravell, Arwa Z. Al Riyami, Yasser Wali, Shahina Daar

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We report the presence of two different δ-globin gene mutations causing δ+-thalassemia in association with homozygous (-α3.7/-α3.7) genotype for the first time in an Omani child with a low hemoglobin A2 (HbA2) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient's δ-globin genes: HbA2-Yialousa (HBD: c.82G>C) and HbA2-Wrens (HBD: c.295G>A). In Oman, where α and β-thalassemia and HbS are prevalent, an awareness of the presence of different δ-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of β-thalassemia carriers.

Original languageEnglish
Pages (from-to)240-242
Number of pages3
JournalInternational Journal of Hematology
Volume98
Issue number2
DOIs
Publication statusPublished - Aug 2013

Keywords

  • δ-Thalassemia
  • HbA-Wrens
  • HbA-Yialousa
  • Oman

ASJC Scopus subject areas

  • Hematology

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