Unusual combination of genetic defects in a Sicilian boy: G gamma delta beta thalassemia, G gamma A gamma heterocellular HPFH, beta (0) thalassemia, and albinism.
Am J Med Genet
; 15(2): 225-31, 1983 Jun.
Article
em En
| MEDLINE
| ID: mdl-6192718
ABSTRACT
We describe the clinical and hematological findings in a 5-year-old boy with G gamma A gamma delta beta thalassemia, a G gamma A gamma heterocellular form of HPFH, beta(0) thalassemia, and albinism. Clinically he manifested only the characteristics of beta-thalassemia trait and not the typical picture of doubly heterozygous beta thal/delta beta thal. The simultaneous presence of heterocellular HPFH improves gamma chain synthesis, thus reducing the alpha chain excess. It is also possible that gene expression can be modified by the presence of other genetic anomalies.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Hemoglobina Fetal
/
Albinismo
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1983
Tipo de documento:
Article