Hereditary Spherocytosis [PDF]
Journal of Health, Population and Nutrition, 2010 A 12-year-old girl was brought to the Dhaka Hospital of ICDDR,B with diarrhoea. Incidentally, the parents provided a history of repeated episodes of pallor and jaundice since she was two and half years old. Three of her family members had similar problems.
Huq, Sayeeda +3 more
core +10 more sources
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis [PDF]
Haematologica, 2020 Hereditary spherocytosis (HS) originates from defective anchoring of the cytoskeletal network to the transmembrane protein complexes of the red blood cell (RBC).
Rick Huisjes +15 more
doaj +4 more sources
Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB [PDF]
Frontiers in Genetics, 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.
Yafei Tian +13 more
doaj +2 more sources
Acquired spherocytosis in the setting of myelodysplasia
Leukemia Research Reports, 2022 Hereditary spherocytosis (HS) is the most prevalent red blood cell (RBC) membrane disorder. We report a rare case of acquired SPTB spherocytosis coinciding with a myelodysplastic syndrome associated U2AF1 mutation, neither found in germline DNA.
Linda Katharina Karlsson +4 more
doaj +2 more sources
IDENTIFICATION AND VERIFICATION OF HEREDITARY SPHEROCYTOSIS BY MEANS OF LABORATORY DIAGNOSIS
Педиатрическая фармакология, 2014 Aim. Hereditary spherocytosis (HS) is the most commonly encountered erythrocyte membranopathy. Frequency of occurrence of the disease makes one case per 2000−5000 newborns.
Yu. A. Prokhorova +4 more
doaj +2 more sources
Hereditary spherocytosis: Retrospective evaluation of 65 children
The Turkish Journal of Pediatrics, 2018 Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children
Ali Güngör +5 more
doaj +3 more sources
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
Case Reports in Women's Health, 2017 Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane.
Dawn M. Hannah +2 more
doaj +2 more sources
Journal of Medical Case Reports, 2016 Background Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States.
Yuki Tateno +2 more
doaj +2 more sources
Clinical course of 63 children with hereditary spherocytosis: a retrospective study
Revista Brasileira de Hematologia e Hemoterapia, 2012 BACKGROUND: Hereditary spherocytosis (HS) is an inherited hemolytic anemia that is caused by deficiency or dysfunction of erythrocyte cytoskeletal proteins.
Maria Christina Lopes Araujo Oliveira +5 more
doaj +2 more sources
An overview of hereditary spherocytosis and the curative effects of splenectomy
Frontiers in PhysiologyHereditary spherocytosis is a common hemolytic anemia with different severity. The causes of hereditary spherocytosis are mutations in genes that encode red blood cell (RBC) membrane and cytoskeletal proteins, including ankyrin-1, Band 3 (or AE1), α ...
Kyril Turpaev +15 more
exaly +3 more sources