Molecular understanding of Indian untransfused thalassemia intermedia
| Autor: | Pooja Dabke, K. Ghosh, Anita Nadkarni, Roshan B. Colah |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Adolescent Genotype Thalassemia Clinical Biochemistry Hepatosplenomegaly India beta-Globins Biology Severity of Illness Index Young Adult hemic and lymphatic diseases Severity of illness medicine Humans Blood Transfusion Genetic Predisposition to Disease Globin Child Genetic Association Studies Genetics Genetic diversity Polymorphism Genetic Biochemistry (medical) Haplotype beta-Thalassemia Hematology General Medicine medicine.disease Phenotype Haplotypes Child Preschool Mutation Female Intermedia medicine.symptom |
| Zdroj: | International journal of laboratory hematology. 37(6) |
| ISSN: | 1751-553X |
| Popis: | Summary Background The term thalassemia intermedia describe a form of thalassemia of intermediate severity, between the major transfusion-dependent forms of the disease and the symptomless carrier states. The phenotypic diversity of β-thalassemia results from its underlying genetic diversity. The wide clinical variability of these conditions leads to major difficulties in their management. The molecular basis of thalassemia intermedia is very heterogeneous. The clinical and hematological course of β-thalassemia intermedia is influenced by a number of genetic factors. Methods and Results The main aim of the study was to evaluate the effect of globin and nonglobin genetic modifiers on clinical severity of the disease. The study group consisted of 66 homozygous patients with β-thalassemia [40 transfusion-dependent thalassemia (TDT), 26 nontransfusion-dependent thalassemia (NTDT)]. Hepatosplenomegaly was pronounced in the NTDT group. The presence of associated α-thalassemia was significantly higher in untransfused patients (P |
| Databáze: | OpenAIRE |
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