Indian Journal of Clinical Biochemistry

, Volume 33, Issue 2, pp 231–234 | Cite as

Coinheritance of Sicilian (δβ)0-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy

  • Hajar Eftekhari
  • Maryam Pilehchian Langroudi
  • Ali Banihashemi
  • Mandana Azizi
  • Reza Youssefi Kamangar
  • Haleh Akhavan-Niaki
Case Report
  • 33 Downloads

Abstract

α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth. Nucleotide sequencing revealed a novel compound heterozygosity status for two non-deletional mutations on HBA2, Hb O Indonesia (α116(GH4)Glu → Lys), and Hb Matsue–Oki (α75 (EF4) Asp → Asn), together with heterozygosity for the sicilian (δβ)0-thal mutation. This finding highlights the necessity of deep molecular investigation of thalassemia in regions where thalassemia is abundant, and present highly heterogeneous population.

Keywords

α-Thalassemia (α-thal) HBA2 Mutation HbF Iran 

Notes

Compliance with Ethical Standards

Conflict of interest

Authors declare no conflict of interest.

Ethical Standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institution.

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Copyright information

© Association of Clinical Biochemists of India 2017

Authors and Affiliations

  • Hajar Eftekhari
    • 1
  • Maryam Pilehchian Langroudi
    • 1
  • Ali Banihashemi
    • 2
  • Mandana Azizi
    • 2
  • Reza Youssefi Kamangar
    • 2
  • Haleh Akhavan-Niaki
    • 1
    • 2
    • 3
  1. 1.Department of Genetics, Faculty of MedicineBabol University of Medical SciencesBabolIran
  2. 2.Genetic Laboratory, Amirkola Children’s HospitalBabol University of Medical SciencesBabolIran
  3. 3.Cellular and Molecular Biology Research CenterHealth Research Institute, Babol University of Medical SciencesBabolIran

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