Article
Clinical and molecular evaluation of non-dominant hereditary spherocytosis.
British journal of haematology - 1 Jan 2001
Miraglia del Giudice E, Nobili B, Francese M, D'Urso L, Iolascon A, Eber S, Perrotta S
Abstract excerpt
About 75% of hereditary spherocytosis (HS) patients have the autosomal dominant form of the disease, whereas both parents of the remaining HS patients are clinically and haematologically normal. These patients could have either the autosomal recessive form of the disease or a de novo mutation. We studied 80 randomly chosen, Italian HS children with normal parents. They had different clinical phenotypes (16 mild,...
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