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

  • Alexandra Agapidou | Alekagapidou@yahoo.gr Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London, United Kingdom.
  • 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.

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Published
2018-01-03
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Section
Case Reports
Keywords:
Thalassemia, HbC, electrophoresis, DNA analysis
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How to Cite
Agapidou, A., King, P., Ng, C., & Tsitsikas, D. A. (2018). Double heterozygosity for hemoglobin C and beta-thalassemia dominant: A rare case of thalassemia intermedia. Hematology Reports, 9(4). https://doi.org/10.4081/hr.2017.7447