Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand
| Autor: | Naruwat Pakdee, Supawadee Yamsri, Goonnapa Fucharoen, Supan Fucharoen, Kanokwan Sanchaisuriya |
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| Rok vydání: | 2016 |
| Předmět: |
Male
medicine.medical_specialty Genotype Genetic counseling Thalassemia Kruppel-Like Transcription Factors Single-nucleotide polymorphism KLF1 beta-Globins Gene mutation Polymorphism Single Nucleotide Gastroenterology 03 medical and health sciences 0302 clinical medicine alpha-Globins hemic and lymphatic diseases Internal medicine Humans Medicine Genotyping business.industry Hemoglobin E beta-Thalassemia Nuclear Proteins Hematology General Medicine Thailand medicine.disease Oncogene Proteins v-myb Repressor Proteins 030220 oncology & carcinogenesis Mutation Female Carrier Proteins business 030215 immunology |
| Zdroj: | Acta Haematologica. 136:233-239 |
| ISSN: | 1421-9662 0001-5792 |
| Popis: | Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined. Five β0-thalassemia mutations and a severe β+-thalassemia mutation in trans to the βE gene were identified. No significant difference in hematological parameters was observed among β-thalassemia genotypes. Coinheritance of α-thalassemia was observed in 31 of the 73 subjects (42.5%). Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects. The molecular basis of NTDT in the remaining 3 (4.1%) cases could not be defined. These results indicate multiple genetic factors in NTDT patients and underline the importance of complete genotyping to provide proper management, make clinical predictions, and improve genetic counseling. |
| Databáze: | OpenAIRE |
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