Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Hemoglobin
; 37(5): 486-91, 2013.
Article
en En
| MEDLINE
| ID: mdl-23806011
ABSTRACT
We present two case reports in which an HBD mutation is present with a rare α hemoglobinopathy that substantially complicates the associated phenotype. In the first case, a new δ-globin variant, Hb A2-Pierre-Bénite [δ83(EF7)GlyâArg; HBD c.250G>C] is associated with Hb Groene Hart [α119(H2)ProâSer (α1); HBA1 c.358C>T], an α-thalassemic variant. In the second case, a δ(+)-thalassemic variant, δ4(A1)ThrâIle; HBD c.14C>T, is associated with a newly described deletion of the hypersensitive site 40 (HS-40) region on the α-globin gene cluster. In both patients, a δ-globin mutation was suspected because of an abnormally low Hb A2 level, whereas the α hemoglobinopathy was sought to explain the slight microcytosis and hypochromia presented by the probands.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Talasemia alfa
/
Talasemia delta
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Hemoglobin
Año:
2013
Tipo del documento:
Article
País de afiliación:
Francia