A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild ß-Thalassemia Intermedia Phenotype in a Turkish Child.
Hemoglobin
; 43(4-5): 277-279, 2019.
Article
em En
| MEDLINE
| ID: mdl-31530045
ABSTRACT
We report a de novo heterozygous variant of the ß-globin chain that showing a mild ß-thalassemia intermedia (ß-TI) phenotype. He presented with mild anemia, splenomegaly, reticulocytosis, and poikilocytosis and tear drop cells on the blood smear; Immune mediated hemolysis, red cell membrane and enzyme defects, were excluded; hemoglobin (Hb) electrophoresis showed an elevation of Hb F. Molecular analysis of the ß-globin gene showed a heterozygous variation in exon 3 (HBB c.379delG, p.Val127Cysfs*32) in the absence of an α-globin gene mutation or mutations that modulate Hb F expression.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Globinas beta
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Turquia