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Hematology Reports
Volume 9
Issue 4
10.4081/hr.2017.7447
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Case Report

Double Heterozygosity for Hemoglobin C and Beta-Thalassemia Dominant: A Rare Case of Thalassemia Intermedia

by
Alexandra Agapidou
*,
Paul King
,
Cecilia Ng
and
Dimitris A. Tsitsikas
Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, London E9 6SR, UK
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2017, 9(4), 7447; https://doi.org/10.4081/hr.2017.7447
Submission received: 13 October 2017 / Revised: 20 November 2017 / Accepted: 21 November 2017 / Published: 3 January 2018

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 thalassemia; HbC; electrophoresis; DNA analysis

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MDPI and ACS Style

Agapidou, A.; King, P.; Ng, C.; Tsitsikas, D.A. Double Heterozygosity for Hemoglobin C and Beta-Thalassemia Dominant: A Rare Case of Thalassemia Intermedia. Hematol. Rep. 2017, 9, 7447. https://doi.org/10.4081/hr.2017.7447

AMA Style

Agapidou A, King P, Ng C, Tsitsikas DA. Double Heterozygosity for Hemoglobin C and Beta-Thalassemia Dominant: A Rare Case of Thalassemia Intermedia. Hematology Reports. 2017; 9(4):7447. https://doi.org/10.4081/hr.2017.7447

Chicago/Turabian Style

Agapidou, Alexandra, Paul King, Cecilia Ng, and Dimitris A. Tsitsikas. 2017. "Double Heterozygosity for Hemoglobin C and Beta-Thalassemia Dominant: A Rare Case of Thalassemia Intermedia" Hematology Reports 9, no. 4: 7447. https://doi.org/10.4081/hr.2017.7447

APA Style

Agapidou, A., King, P., Ng, C., & Tsitsikas, D. A. (2017). Double Heterozygosity for Hemoglobin C and Beta-Thalassemia Dominant: A Rare Case of Thalassemia Intermedia. Hematology Reports, 9(4), 7447. https://doi.org/10.4081/hr.2017.7447

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