Interaction of Hb South Florida (codon 1; GTG--ATG) and HbE, with beta-thalassemia (IVS1-1; G--A): expression of different clinical phenotypes
| Autor: | Jin-Ai Mary Anne Tan, Lee-Lee Chan, Kim-Lian Tan, Yong-Chui Wee, Elizabeth George, Khairul Zaman Omar |
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| Rok vydání: | 2008 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Genotype Thalassemia Hemoglobins Abnormal DNA Mutational Analysis Molecular Sequence Data Gene Expression Biology medicine.disease_cause Compound heterozygosity Polymerase Chain Reaction Gene Frequency hemic and lymphatic diseases medicine Humans Point Mutation Blood Transfusion Allele Codon Gene Alleles DNA Primers Genetics Mutation beta-Thalassemia Hemoglobin variants Genetic Variation Infant medicine.disease Hemoglobinopathy Phenotype Pediatrics Perinatology and Child Health Splenomegaly Female RNA Splice Sites Hepatomegaly |
| Zdroj: | European journal of pediatrics. 168(9) |
| ISSN: | 1432-1076 |
| Popis: | Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G--A).HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother. |
| Databáze: | OpenAIRE |
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