A Mild Phenotype of Severe ß+ Thalassemia in a 16-Month-Old Boy.
J Pediatr Hematol Oncol
; 40(3): e145-e147, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-29309373
ABSTRACT
ß thalassemia is characterized by a deficient production of functional ß-globin chains and a relative excess of α-globin chains. An extremely diverse clinical spectrum-asymptomatic to transfusion-dependent-is primarily due to homozygosity or compound heterozygosity for the very large number of ß-thalassemia-causing mutations, along with interacting mutations that affect the α-globin and γ-globin genes and their expression. We report a case of a 16-month-old boy who was initially diagnosed with iron deficiency anemia until he was later found to be homozygous for a severe ß-thalassemia genotype with a mild hematologic phenotype. This was likely as a result of his ability to produce high levels of fetal hemoglobin.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article