Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases.
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.
Iolascon
A
A
Dipartimento di Pediatria, I Facoltà di Medicina, Università di Napoli, Italy.
Miraglia del Giudice
E
E
Camaschella
C
C
Pinto
L
L
Nobili
B
B
Perrotta
S
S
Cutillo
S
S
D000293:Adolescent; D000328:Adult; D017487:Ankyrins; D001798:Blood Proteins / Q000172:deficiency*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D010375:Pedigree; D013049:Spectrin / Q000172:deficiency; D013103:Spherocytosis, Hereditary / Q000097:blood* / Q000235:genetics
D017487:Ankyrins; D001798:Blood Proteins; D008565:Membrane Proteins; D013049:Spectrin