A new high A2-beta-thalassemia due to a 468 bp deletion (-475 to -8) in the beta-globin gene promoter of the intact beta-globin structural gene.
Laboratoire de Biochimie Génétique, Federation de Génétique, Hôpital Robert Debré, Paris, France.
Irénée
I
Kueviakoe
Nathalie
N
Gerard
Rajagopal
R
Krishnamoorthy
Sabrina
S
Pereira
Jacques
J
Elion
Rolande
R
Ducrocq
D000328:Adult; D005260:Female; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000378:metabolism*; D006801:Humans; D011401:Promoter Regions, Genetic; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics* / Q000378:metabolism*
D005914:Globins; D006443:Hemoglobin A2