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 |
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MDPI AG
2018-01-01
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| Series: | Hematology Reports |
| Subjects: | |
| Online Access: | http://www.pagepress.org/journals/index.php/hr/article/view/7447 |
| _version_ | 1797935659843846144 |
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| author | Alexandra Agapidou Paul King Cecilia Ng Dimitris A. Tsitsikas |
| author_facet | Alexandra Agapidou Paul King Cecilia Ng Dimitris A. Tsitsikas |
| author_sort | Alexandra Agapidou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T18:17:36Z |
| format | Article |
| id | doaj.art-0b4bba6e02f54a1dbb6c44b1d7d37555 |
| institution | Directory Open Access Journal |
| issn | 2038-8322 2038-8330 |
| language | English |
| last_indexed | 2024-04-10T18:17:36Z |
| publishDate | 2018-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-0b4bba6e02f54a1dbb6c44b1d7d375552023-02-02T08:05:25ZengMDPI AGHematology Reports2038-83222038-83302018-01-019410.4081/hr.2017.74473865Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermediaAlexandra Agapidou0Paul King1Cecilia Ng2Dimitris A. Tsitsikas3Hemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, LondonHemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, LondonHemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, LondonHemoglobinopathy Service, Homerton University Hospital NHS Foundation Trust, LondonBeta 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.http://www.pagepress.org/journals/index.php/hr/article/view/7447Thalassemia, HbC, electrophoresis, DNA analysis |
| spellingShingle | Alexandra Agapidou Paul King Cecilia Ng Dimitris A. Tsitsikas Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia Hematology Reports Thalassemia, HbC, electrophoresis, DNA analysis |
| title | Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia |
| title_full | Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia |
| title_fullStr | Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia |
| title_full_unstemmed | Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia |
| title_short | Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia |
| title_sort | double heterozygocity for hemoglobin c and beta thalassemia dominant a rare case of thalassemia intermedia |
| topic | Thalassemia, HbC, electrophoresis, DNA analysis |
| url | http://www.pagepress.org/journals/index.php/hr/article/view/7447 |
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