Article ; Online: Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β
Hematology (Amsterdam, Netherlands)
2018 Volume 23, Issue 2, Page(s) 117–121
Abstract: Objectives: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with ... ...
Abstract | Objectives: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with chronic hemolytic anemia. Methods: A comprehensive hematology and DNA analysis was applied in the index patient and her mother. Results: Hematological and hemoglobin analyses were consistent with the clinical diagnosis of Hb E/β Discussion: This mutation was assumed to generate a truncated β-globin chain terminating at codon 60 with possible unstable variant leading to a 'null' or β Conclusion: This report has provided evidence that genotype-phenotype correlation in thalassemia syndromes is highly complex and a correct clinical severity classification of thalassemia should be mainly based on clinical evaluation. |
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MeSH term(s) | Child ; Female ; Frameshift Mutation ; Hemoglobins, Abnormal/genetics ; Humans ; Thailand ; beta-Thalassemia/genetics |
Chemical Substances | Hemoglobins, Abnormal |
Language | English |
Publishing date | 2018-03 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ZDB-ID | 1341428-8 |
ISSN | 1607-8454 ; 1024-5332 ; 1024-5340 |
ISSN (online) | 1607-8454 |
ISSN | 1024-5332 ; 1024-5340 |
DOI | 10.1080/10245332.2017.1359899 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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