| http://purl.uniprot.org/citations/11132233 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11132233 | http://www.w3.org/2000/01/rdf-schema#comment | "PurposeHeterogeneity in the clinical manifestation of beta-thalassemic diseases may occur from the nature of beta-globin gene mutations, alpha-thalassemia gene interaction, or differences in the amount of hemoglobin (Hb) F production. This study was conducted to determine whether these genetic determinant factors can predict phenotypic severity of patients with beta-thalassemia and to assess the relationship between the genotype and phenotype of the disease.Materials and methodsA total of 144 patients with beta-thalassemia were divided into mild (46 patients), intermediate (55 patients), and severe groups (43 patients). DNA analysis based on polymerase chain reaction technique was performed to characterize types of beta-thalassemia mutation, interaction of alpha-thalassemia, and XmnI polymorphism 5' to Ggamma-globin gene.ResultsTwo alleles of mild beta-thalassemia mutation (beta+/beta+-thalassemia or beta+-thalassemia/Hb E) resulted in a mild clinical symptom whereas two alleles of severe beta-thalassemia mutation (betao/betao) produced a severe clinical phenotype. Compound heterozygosity for mild and severe alleles of beta-thalassemia (betao/ beta+-thalassemia or betao-thalassemia/Hb E) led to variable severity of anemia. Coinheritance of alpha-thalassemia alleviated the severity of beta-thalassemia disease in those patients with at least one allele of the mild beta-thalassemia genotype. DNA polymorphism at position-158 nt 5' to the Ggamma-globin gene was demonstrated by XmnI restriction enzyme. Homozygote of the XmnI site, +/+, was found to have a strong linkage with high Hb F levels and high hemoglobin production in two patients who had mild clinical symptoms. However, some patients who had XmnI site -/-also had mild clinical symptoms because the XmnI-was found to be associated with beta+-thalassemia mutation.ConclusionTypes of beta-thalassemia mutation and coinheritance of alpha-thalassemia in the patient who has at least one allele of the mild beta-thalassemia genotype are predictive for the clinical severity of the disease. However, a mild clinical symptom in some patients with betao/beta+-thalassemia or betao-thalassemia/Hb E who do not have a detectable alpha-thalassemia haplotype and no linkage with XmnI++ suggests that there are other confounding factors responsible for the severity differences of the disease."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.org/dc/terms/identifier | "doi:10.1097/00043426-200011000-00026"xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/author | "Chen P."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/author | "Fucharoen S."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/author | "Wasi P."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/author | "Winichagoon P."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/name | "J Pediatr Hematol Oncol"xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/pages | "573-580"xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/title | "Genetic factors affecting clinical severity in beta-thalassemia syndromes."xsd:string |
| http://purl.uniprot.org/citations/11132233 | http://purl.uniprot.org/core/volume | "22"xsd:string |
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