Co-inheritance of ß- and δ-thalassemia compromising prenatal screening in a Chinese couple seeking prevention.
Fetal Diagn Ther
; 30(1): 73-6, 2011.
Article
en En
| MEDLINE
| ID: mdl-21494010
Although δ-globin gene mutations have no clinical implications, association of ß- and δ-thalassemia may lead to misdiagnosis. We describe the case of a Chinese woman who was assumed to have an α-thalassemia heterozygote, but was later shown to have ß-thalassemia with a normal amount of HbA(2) caused by the -77 mutation of the δ-globin gene. This study highlights the importance of considering δ-thalassemia during ß-thalassemia screening to avoid false-negative results in the detection of at-risk couples.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobina A2
/
Talasemia beta
/
Talasemia delta
/
Globinas delta
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Fetal Diagn Ther
Asunto de la revista:
DIAGNOSTICO POR IMAGEM
/
OBSTETRICIA
/
PERINATOLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Suiza