Italian type of deletional hereditary persistence of fetal hemoglobin
G Saglio, C Camaschella, A Serra, T Bertero, G Rege Cambrin, A Guerrasio, U Mazza, P Izzo, F Terragni and B Giglioni
We report a new type of deletion of the beta globin gene cluster in the
Italian population that confers a phenotype of hereditary persistence of
fetal hemoglobin (HPFH) to the carriers. This deletion begins approximately
5 kilobases (kb) 5' to the delta globin gene and ends approximately 30 kb
3' to the beta globin gene, in close proximity to the 3' end of an Indian
HPFH. In all four previously described HPFH, a repetitive Alu I region 5'
to the delta globin gene is largely or completely deleted; the 5' end of
the new HPFH is consistent with this common feature. In addition, the
finding that Italian and Indian HPFHs, as reported for other groups of
deletions, have very close 3' ends, strengthens the idea that common
mechanisms may operate in generating these deletions. Finally, we show
that, in spite of similar 5' breakpoints, the deletion of Spanish delta
beta degrees-thalassemia is at least 8 kb longer than that of Negro HPFH
type I, thus ruling out the hypothesis that the overall extent of the
deletion might influence the level of gamma globin chain synthesis.
Volume 68,
Issue 3,
pp. 646-651,
09/01/1986
Copyright © 1986 by The American Society of Hematology
