A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome.
Rose
Christian
C
Rossignol
Julien
J
Lambilliotte
Anne
A
Depret
Sandrine
S
Le Metayer
Nathalie
N
Pissard
Serge
S
D000328:Adult; D001803:Blood Transfusion; D005260:Female; D020440:Gene Duplication; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D017384:Sequence Deletion; D013789:Thalassemia / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*
D055542:alpha-Globins