β-spectrinBari: a truncated β-chain responsible for dominant hereditary spherocytosis

We describe a β-spectrin variant, named β-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes and acanthocytes in the blood smear. The occurrence of the...

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Hlavní autoři:	Silverio Perrotta, Fulvio Della Ragione, Francesca Rossi, Rosa Anna Avvisati, Daniela Di Pinto, Giovanna De Mieri, Saverio Scianguetta, Silvia Mancusi, Luigia De Falco, Vito Marano, Achille Iolascon
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Ferrata Storti Foundation 2009-12-01
Edice:	Haematologica
On-line přístup:	https://haematologica.org/article/view/5442
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