A patient of German descent with (delta beta)0-thalassemia carrying the Sicilian type deletion of the delta and beta globin genes.
A deletion-type (delta beta)0-thalassemia with elevated production of fetal hemoglobin (Hb F) is described. The patient, homozygous for the disease, presented a clinical picture of beta-thalassemia intermedia. DNA analysis demonstrated that the deletion removed about 13 kb from the beta-globin cluster, including part of delta and the complete beta gene. The deletion appears to be identical to the previously described Sicilian deletion. Its presence in the homozygous state in a patient from Central Europe suggests that the deleted chromosome may be rather prevalent in that area.
Hopmeier
P
P
Central Laboratory, Municipal Hospital Lainz, Vienna, Austria.
Shenhav
A
A
Glaser
G
G
Rachmilewitz
E A
EA
Oppenheim
A
A
D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005858:Germany / Q000208:ethnology; D005914:Globins / Q000235:genetics*; D006801:Humans; D007557:Israel; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D005914:Globins