Results 71 to 80 of about 6,512 (195)

Hereditary spherocytosis

, 2021
Hereditary spherocytosis (HS) is a relatively common hemolytic anemia; most affected individuals have mild or only moderate haemolysis. It is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance ...
Celkan, Tülin Tıraje
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect

Haematologica, 2008
Background Hereditary spherocytosis is a very heterogeneous form of hemolytic anemia. The aim of this study was to relate the type of molecular defect with clinical and hematologic features and response to splenectomy using information from a large ...
Mariagabriella Mariani, Wilma Barcellini, Cristina Vercellati, Anna Paola Marcello, Elisa Fermo, Paola Pedotti, Carla Boschetti, Alberto Zanella   +7 more
doaj   +1 more source

Hereditary Spherocytosis [PDF]

Blood, 1951
Abstract Clinical, hematologic and genetic data on 28 cases of hereditary spherocytosis are presented for the purpose of characterizing this disorder as completely as possible. On the basis of this experience it is recommended that the following typical laboratory findings be sought in establishing a diagnosis in suspected cases: (1 ...
LAWRENCE E. YOUNG, MARY JANE IZZO, RICHARD F. PLATZER   +2 more
openaire   +1 more source

An Intriguing Case of Anaemia and Splenomegaly

European Journal of Case Reports in Internal Medicine, 2014
Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorders. Gaucher disease (GD) is a rare lysosomal storage disorder frequently characterized by thrombocytopenia and splenomegaly, which represents a clinical ...
Erika Poggiali, Isabella Nava, Marianna Giuditta, Lorena Duca, Elena Cassinerio   +4 more
doaj   +1 more source

Subtotal splenectomy in hereditary spherocytosis during childhood

, 2001
After splenectomy, the risk of patients with hereditary spherocytosis for sepsis and meningitis is increased for life (frequency 1.8% in our sample), in order to preserve the immunologic function of the spleen, we performed subtotal splenectomies in 18 ...
Langendorfer, C. M., Heidemann, P., Mex, G., Reinhardt, D., Eber, S. W., Riekhof, J., Bolkenius, M., Stohr, G.   +7 more
core   +1 more source

A case of severe intravascular haemolysis

eJHaem, 2022
Alice Ching Ching Wong, Eudora Yu De Chow   +1 more
doaj   +1 more source

Table1_Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB.XLSX

, 2023
Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear.
Yao Wang (102387), Jingmin Yang (151467), Daru Lu (102676), Hongyan Chen (87846), Pengfei Gao (1292217), Mengru Li (1470379), Hui Xu (9203), Hongli Yan (217358), Yiming Wu (295996), Yafei Tian (11406711)   +9 more
core   +1 more source

Increase in band 3 density and aggregation in hereditary spherocytosis

, 2001
Purpose: Red cells in hereditary spherocytosis are characterized by a reduced surface area/volume ratio. The mechanisms leading to the loss of membrane material and subsequent elimination of the cells have still not been clarified.
Reinhardt, D., Witt, Olaf, Pekrun, Arnulf, Herken, R., Miosge, Nicolai   +4 more
core   +1 more source

Esplenectomias não traumáticas em adultos e crianças: um estudo comparativo. [PDF]

, 2002
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Bez, Carolina Moreira
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