-transparent.png){kind=logo}
We describe three Italian subjects from two unrelated families affected with isolated hereditary spherocytosis (HS) without other clinical abnormalities, associated with partial spectrin and ankyrin deficiency. In both families the propositus has normal biological parents, and thus appears to be the result of a new mutation; in one of them the disease is further transmitted in an autosomal dominant fashion. Cytogenetic analysis of the latter family excluded abnormalities of the short arm of chromosome 8. We speculate that in both kindreds ankyrin deficiency is the primary defect related to ankyrin gene mutation. Several pieces of evidence suggest that ankyrin deficiency is probably the most common molecular defect in HS. It is inherited in a, dominant manner and its clinical and biochemical expression is heterogenous.
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
January 1997,
Haematologica,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
November 1993,
Blood,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
August 1993,
Annals of hematology,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
January 2019,
Acta haematologica,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
January 1988,
The New England journal of medicine,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
October 1955,
A.M.A. American journal of diseases of children,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
June 1996,
Nature genetics,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
August 2002,
International journal of hematology,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
January 1971,
Sangre,
A Iolascon, and
E Miraglia del Giudice, and
C Camaschella, and
L Pinto, and
B Nobili, and
S Perrotta, and
S Cutillo
December 2000,
Human mutation,
