Molecular characterization of thalassemia intermedia associated with HPFH-6/beta-thalassemia and HPFH-6/Hb E in Thai patients
| Autor: | Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Satja Surapot, Supan Fucharoen |
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| Rok vydání: | 2002 |
| Předmět: |
Hemolytic anemia
Male congenital hereditary and neonatal diseases and abnormalities Hereditary persistence of fetal hemoglobin Thalassemia Biology law.invention law hemic and lymphatic diseases Fetal hemoglobin medicine Humans Child Codon Polymerase chain reaction Fetal Hemoglobin Aged Genetics Hemoglobin E beta-Thalassemia Hematology General Medicine medicine.disease Hemoglobinopathy Child Preschool Immunology Mutation Thalassemia intermedia |
| Zdroj: | Acta haematologica. 108(3) |
| ISSN: | 0001-5792 |
| Popis: | We report the molecular and hematological characterizations of thalassemia caused by interactions of the hereditary persistence of fetal hemoglobin (HPFH)-6 with β-thalassemia in 2 Thai patients and the HPFH-6 with Hb E in another Thai patient. Marked hypochromic microcytosis, characteristics of thalassemia intermedia, were obvious in the former 2 cases but the latter had much milder clinical phenotype with normal Hb and a slightly reduced mean corpuscular volume (MCV) value. Hb analysis revealed no Hb A but Hb A2F patterns in the compound HPFH-6/β-thalassemia patients and the EF pattern in the HPFH-6/Hb E patient. The Gγ-globin chain predominated in all cases. Globin gene analyses demonstrated that all patients carried the 101-kb HPFH-6 deletion in trans to the β-thalassemia genes with the IVS1#5 G–C mutation and the G insertion between codons 8/9 and the βE-gene, respectively. Hematologic data of the patients were compared to those of the HPFH-6 heterozygotes found in their family members and different genotype-phenotype interactions of this HPFH determinant in these Thai patients are illustrated. |
| Databáze: | OpenAIRE |
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