Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 551-554 |
| Number of pages | 4 |
| Journal | British Journal of Haematology |
| Volume | 78 |
| Issue number | 4 |
| Publication status | Published - 1991 |
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ASJC Scopus subject areas
- Hematology
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Ankyrin deficiency in dominant hereditary spherocytosis : Report of three cases. / Iolascon, A.; Miraglia Del Giudice, E.; Camaschella, C.; Pinto, L.; Nobili, B.; Perrotta, S.; Cutillo, S.
In: British Journal of Haematology, Vol. 78, No. 4, 1991, p. 551-554.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Ankyrin deficiency in dominant hereditary spherocytosis
T2 - Report of three cases
AU - Iolascon, A.
AU - Miraglia Del Giudice, E.
AU - Camaschella, C.
AU - Pinto, L.
AU - Nobili, B.
AU - Perrotta, S.
AU - Cutillo, S.
PY - 1991
Y1 - 1991
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0025820165&partnerID=8YFLogxK
M3 - Article
C2 - 1832935
AN - SCOPUS:0025820165
VL - 78
SP - 551
EP - 554
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 4
ER -