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Double heterozygosity for hemoglobin C and beta-thalassemia dominant: A rare case of thalassemia intermedia

Alexandra Agapidou, Paul King, Cecilia Ng, Dimitris A. Tsitsikas
  • Alexandra Agapidou
    Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, United Kingdom | Alekagapidou@yahoo.gr
  • Paul King
    Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, United Kingdom
  • Cecilia Ng
    Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, United Kingdom
  • Dimitris A. Tsitsikas
    Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, United Kingdom

Abstract

Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable β globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as extramedullary hemopoiesis, bone disease, endocrinopathies and iron overload even in the absence of transfusion. In this report we present a case of double heterozygosity for HbC and β thalassemia dominant leading to a series of complications that were treated successfully once the correct diagnosis was made.

Keywords

Thalassemia, HbC, electrophoresis, DNA analysis

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Submitted: 2017-10-13 21:06:30
Published: 2018-01-03 08:43:48
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Copyright (c) 2017 Alexandra Agapidou, Paul King, Cecilia Ng, Dimitris A. Tsitsikas

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