Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child
| Autor: | Man-Yu Wu, Sha Liu, Yongling Zhang, Dong-Zhi Li, Hua Jiang |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Male
Heterozygote congenital hereditary and neonatal diseases and abnormalities Thalassemia Biology medicine.disease_cause Asian People alpha-Globins hemic and lymphatic diseases Gene duplication Gene cluster medicine Humans Multiplex ligation-dependent probe amplification Allele Gene Alleles Chromosome Aberrations Genetics Mutation beta-Thalassemia Heterozygote advantage Hematology medicine.disease Molecular biology Oncology Child Preschool Multigene Family Pediatrics Perinatology and Child Health Chromosomes Human Pair 16 |
| Zdroj: | Pediatric Hematology and Oncology. 32:349-353 |
| ISSN: | 1521-0669 0888-0018 |
| DOI: | 10.3109/08880018.2015.1040932 |
| Popis: | Thalassemia intermedia is an inherited hemoglobin disorder characterized by a significant genetic and clinical heterogeneity. A wide spectrum of different genotypes-homozygous, heterozygous, and compound heterozygous-have been found to be responsible for it. The authors describe a Chinese child of β-thalassemia heterozygote with the mutation IVS2-654 (C→T) (HBB:c.316-197C→T) presenting with severe thalassemia intermedia. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the α gene cluster revealed an approximate 146-kb duplication at 16p13.3 including the complete α gene cluster. The duplicated allele and the normal allele in trans result in a total of 6 active α genes. The severe clinical phenotype seemed to be related to the considerable excess of the α-globin and the β-globin deficit caused by the presence of the β-thalassemia. The α gene duplication should be considered in patients heterozygous for β-thalassemia who show a more severe phenotype than β-thalassemia trait. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |