Výsledky vyhledávání - "hereditary spherocytosi"

Advances in understanding the pathogenesis of red cell membrane disorders

Autor: Achille Iolascon, Roberta Russo, Immacolata Andolfo

Publikováno v: British Journal of Haematology. 187:13-24

Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa3dc683a934f7d643fe5702ae73ca1
https://doi.org/10.1111/bjh.16126

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ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

Autor: S.-H. Lee, James D. Hoyer, Paola Bianchi, Véronique Picard, L. Garçon, M.-J. King, Achille Iolascon, G. Stewart, Alberto Zanella

SummaryIntroduction Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane proteins. The heterogeneous clinical presentation, biochemic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5930ac59cbca9c5dbee4b82b6d708963
http://hdl.handle.net/11588/661104

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Splenectomy for hereditary spherocytosis: complete, partial or not at all?

Autor: Maddalena Casale, Silverio Perrotta

Publikováno v: Expert review of hematology. 4(6)

Hereditary spherocytosis (HS) is an hematologic disorder, common in the Northern European population, which is characterized by hemolytic anemia and splenomegaly. The pathophysiological bedrock of HS consists of the retention and damage of abnormal r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10bc2b90aeac84e8b9551233e27e104d
https://pubmed.ncbi.nlm.nih.gov/22077527

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4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis [3]

Autor: PERROTTA, Silverio, IOLASCON A, POLITO R, D'URZO G, CONTE ML, MIRAGLIA DEL GIUDICE, Emanuele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::76a6da44eb39b30df29900b7eaf00c01
http://hdl.handle.net/11591/228644

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Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: evidence for differentiated splenic conditioning role

Autor: Silverio Perrotta, Alessandra F. Perna, Patrizia Galletti, Giovanna D’Urzo, E. Miraglia del Giudice, Vincenzo Zappia, Achille Iolascon, Stefania D'Angelo, Diego Ingrosso

Publikováno v: British journal of haematology. 93(1)

Based on quantitative analysis of red cell membrane proteins, hereditary spherocytosis (HS) can be divided into two main groups including isolated or ankyrin combined spectrin deficiency and band 3 reduction. Protein methyl esterification catalysed b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39253e86bfe32fb59d1007a4f66a1a7
https://pubmed.ncbi.nlm.nih.gov/8611472

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Characterization of red cell membrane proteins as a function of red cell density: Annexin VII in different forms of hereditary spherocytosis

Autor: Francesco Salvatore, Stefania Orrù, Gordon W. Stewart, Achille Iolascon, Luigi Del Vecchio, Silverio Perrotta, Marianna Caterino, Margherita Ruoppolo, Marcella Savoia

Publikováno v: FEBS Letters. (28-29):6527-6532

Fresh human blood samples were collected from healthy controls and splenectomized and unsplenectomized patients with hereditary spherocytosis due to band 3 or ankyrin and spectrin deficiency. The erythrocytes were separated into age-related fractions

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