Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a ß-Thalassemia Heterozygous Child.
Pediatr Hematol Oncol
; 32(5): 349-53, 2015.
Article
en En
| MEDLINE
| ID: mdl-26086873
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 ß-thalassemia heterozygote with the mutation IVS2-654 (CâT) (HBB:c.316-197CâT) 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 ß-globin deficit caused by the presence of the ß-thalassemia. The α gene duplication should be considered in patients heterozygous for ß-thalassemia who show a more severe phenotype than ß-thalassemia trait.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
/
Aberraciones Cromosómicas
/
Talasemia beta
/
Alelos
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Heterocigoto
Límite:
Child, preschool
/
Humans
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Male
Idioma:
En
Revista:
Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido