Double Heterozygocity For Hemoglobin C And Beta Thalassemia Dominant: A Rare Case Of Thalassemia Intermedia
HEMATOLOGY REPORTS(2017)
Abstract
Beta thalassemia dominant results from mutations in the beta globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of beta 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 heterozygocity for HbC and beta thalassemia dominant leading to a series of complications that were treated successfully once the correct diagnosis was made.
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Key words
Thalassemia,HbC,electrophoresis,DNA analysis
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