Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia
Beta thalassemia dominant results from mutations in the β 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 β thalassemia trait an...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2018-01-01
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| Series: | Hematology Reports |
| Subjects: | |
| Online Access: | http://www.pagepress.org/journals/index.php/hr/article/view/7447 |
| Summary: | Beta thalassemia dominant results from mutations in the β 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 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 heterozygocity 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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| ISSN: | 2038-8322 2038-8330 |