Correlation Engine 2.0
Clear Search sequence regions


  • alpha thalassemia (2)
  • diagnosis (1)
  • globin (3)
  • HBA1 (4)
  • HBA2 (1)
  • hemoglobin (1)
  • man (1)
  • microcytosis (1)
  • propositus (1)
  • thalassemia (2)
  • Sizes of these terms reflect their relevance to your search.

    To describe a new mutation causing alpha thalassemia and its mechanism of action. The propositus was a 37-year-old man who presented maintained microcytosis without iron deficiency. Molecular characterization was undertaken using automatic sequencing after testing negative for the most frequent α-globin mutations by multiplex PCR followed by reverse-hybridization. The mutation is a single base substitution at codon 65 of the α1 globin gene [α65(E14) Ala>Pro; HBA1: c.196G>C] and leads to the substitution of a proline residue in the E helix. The resulting hemoglobin variant has been named Hb Maruchi. This new variant cannot be separated from Hb A by electrophoretic and chromatographic techniques. The substitution α65(E14) Ala>Pro; HBA1: c.196G>C causes a α-thalassemia silent associated with a very mild phenotype. The diagnosis of this type of mutation is important because it may cause alpha thalassemia if inherited with other clinically relevant HBA1/HBA2 variants. Copyright © 2021 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

    Citation

    Paloma Ropero, Jorge M Nieto, Fernando-Ataúlfo González Fernández, Ana Villegas, Celina Benavente. Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene. Clinical biochemistry. 2021 Jun;92:77-81


    PMID: 33675809

    View Full Text