Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia

  • Hengameh Nasouhipur
  • Ali Banihashemi
  • Reza Youssefi Kamangar
  • Haleh Akhavan-Niaki
Case Report

Abstract

β-thalassemia is the most common single gene disorder worldwide and in Iran. In the present study we report for the first time a rare variant of hemoglobin HBB:c.82G>T; Codon 27 GCC→TCC (Ala→Ser), Hb Knossos, using sequencing and reverse dot blot hybridization, in members of a family from North Iran. The family has a 16 years-old compound heterozygous thalassemia intermedia male child presenting this variant together with HBB:c.315+1G>A (IVSII-I) mutation. The father, heterozygous for Hb Knossos, showed borderline hematological indices. To our knowledge, this is the first report of Hb Knossos in trans with the βO IVSII-I allele leading to thalassemia intermedia. Our data also highlight the necessity of deep molecular characterization of subjects presenting normal HbA2 level associated with abnormal or borderline red cell indices.

Keywords

Thalassemia intermedia Hb Knossos Iran 

Notes

Conflict of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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Copyright information

© Indian Society of Haematology & Transfusion Medicine 2014

Authors and Affiliations

  • Hengameh Nasouhipur
    • 1
  • Ali Banihashemi
    • 2
  • Reza Youssefi Kamangar
    • 2
  • Haleh Akhavan-Niaki
    • 1
    • 2
  1. 1.Cellular and Molecular Biology Research CenterBabol University of Medical SciencesBabolIran
  2. 2.Genetic Laboratory of Amirkola Children HospitalBabol University of Medical SciencesBabolIran

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