Pitfalls in genetic counselling for β-thalassemia: an individual with 4 different thalassemia mutations
| Autor: | T. Tuveri, Maria Addis, M. Furbetta, Antonio Cao, Renzo Galanello, Maria Antonietta Melis, M. E. Paglietti |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Heterozygote congenital hereditary and neonatal diseases and abnormalities Genetic counseling Thalassemia Genetic Counseling Biology medicine.disease_cause Gene mapping hemic and lymphatic diseases Gene cluster Genetics medicine Humans Gene Genetics (clinical) Mutation Haplotype medicine.disease Globins Pedigree Phenotype Hemoglobinopathy Haplotypes Female |
| Zdroj: | Clinical Genetics. 33:151-155 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1988.tb03430.x |
| Popis: | This paper describes a complex combination of four thalassemia genes (delta(+), beta(0), nondeletion and deletion alpha-thalassemia) in the spouse of a typical high Hb A2 beta-thalassemia carrier presenting for genetic counselling. This complex gene combination resulted in a hematological phenotype, characterized by thalassemia-like red cell indices, normal Hb A2 and Hb F levels and slightly reduced alpha/beta globin chain synthesis ratio, and therefore not indicative for the presence of beta-thalassemia trait. Family studies in combination with alpha-globin gene mapping, haplotype analysis at the beta-globin gene cluster and definition of the beta-thalassemia mutation by oligonucleotide hybridization led us to identify a beta-thalassemia mutation, to define the molecular basis for this phenotype and give the appropriate genetic counselling. |
| Databáze: | OpenAIRE |
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