Hereditary spherocytosis
New Thoughts on Hereditary Spherocytosis
... cave discs, crenated discs, crenated and smooth spheres. Fig 4-Phase photomicrograph of hereditary spherocytosis blood incubated 5 hours in absence of glucose.. Hereditary sp[r] ...
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ALTERATIONS IN OSMOTIC AND MECHANICAL FRAGILITY RELATED TO IN VIVO ERYTHROCYTE AGING AND SPLENIC SEQUESTRATION IN HEREDITARY SPHEROCYTOSIS
... The data from the present study demonstrate that in some patients with hereditary spherocytosis there is a progressive increase in osmotic and mechanical fragility of a portion of the re[r] ...
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Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report
... in hereditary spherocytosis is associated with a significant in- creased long-term risk of venous thromboembolic events, and severe chronic thromboembolic pulmonary hyperten- sion has been reported in ...
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Case Report A case of chemotherapy induced hemolytic anemia of choriocarcinoma combined with hereditary spherocytosis
... Abstract: This study reported a case of hereditary spherocytosis patient presented hemolytic anemia during the chemotherapy of choriocarcinoma. A female patient aged 28 years old, gestation 5 times and ...
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Original Article A novel mutation in the ANK1 gene causes hereditary spherocytosis in a Chinese patient
... Background: Hereditary spherocytosis (HS) is the highest incidence disease of hemolytic anemia and is characterized by the production of spherocytes red blood ...
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Hereditary Spherocytosis in Neonates With Hyperbilirubinemia
... OBJECTIVES: Hereditary spherocytosis (HS) is the most common in- herited hemolytic disease among people of Northern European decent. Neonates with HS can develop significant hyperbilirubinemia, but we ...
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Case Report Hepatitis C-induced liver cirrhosis combined with hereditary spherocytosis: a case report
... Hereditary spherocytosis is rare in the Chinese population (incidence ...Thus, hereditary spherocytosis could be mis- taken for other conditions, such as parvovirus B19 infection and ...
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Original Article Hereditary spherocytosis combined with glucose-6-phosphate dehydrogenase deficiency in a Chinese family
... with hereditary spherocytosis (HS) combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency, and evaluated differences in clinical features and diagnose the ...
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Paraspinal extramedullary hematopoiesis in hereditary spherocytosis with a concurrent follicular lymphoma: case report and review of the literature
... We report an unusual case of a 70-year-old male with history of hereditary spherocytosis (HS) and secondary paraspinal extramedullary hematopoiesis with a concurrent follicular lymphoma. The lesion ...
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Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis
... of hereditary spherocytosis have long been recognized, we have only recently begun to define the molecular basis for this ...with hereditary spherocytosis and deficiencies of spectrin (30-80% ...
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Membrane Lipid Depletion in Hyperpermeable Red Blood Cells: Its Role in the Genesis of Spherocytes in Hereditary Spherocytosis
... Hereditary spherocytosis (HS) red cells lose membrane lipids excessively during incubation in vitro. Individual phosphatides as well as cholesterol are lost in proportion to their content in membranes, ...
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A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis
... This report describes a French kindred with typical domi- nantly inherited hereditary spherocytosis associated with band 3 deficiency and abnormal erythrocyte anion transport. Analy- sis of DNA ...
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Human parvovirus B19 induced aplastic crisis in an adult patient with hereditary spherocytosis: a case report and review of the literature
... We systematically reviewed the case reports of HPV- B19 infection that occurred in adult patients with HS and conducted a literature search using the “Pubmed” search engine. The following terms “hereditary ...
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Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4 1
... We analyzed the DNA sequence of the cDNA encoding the NH2 terminal region of beta spectrin from members of a kindred with autosomal dominant hereditary spherocytosis associated with defective protein 4.1 ...
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Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE)
... dominant hereditary spherocytosis and a partial deficiency of the band 3 protein that is reflected by decreased rate of transmembrane sulfate flux and decreased density of intramembrane ...
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A de novo ANK1 mutation associated to hereditary spherocytosis: a case report
... Case presentation: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2 – 3 months. Hematological investigations showed moderate anemia (Hb80 g/L). Red ...
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PARVOVIRUS B19 ASSOCIATED HAEMOPHAGOCYTIC LYMPHOHISTIOCYTISIS IN HEREDITARY SPHEROCYTOSIS PATIENT: A CASE REPORT
... HLH associated with infection was initially described in immune-suppressed patients (9). Various infectious organisms have been associated with HLH. Viral infections associated with the syndrome include Epstein-Barr ...
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Red cell life span after splenectomy in hereditary spherocytosis
... of spherocytosis after splenectomy in hereditary spherocytosis, it has usually been assumed that red cell life span returns completely to normal after this ...in hereditary spherocytic red ...
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A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates
... Hereditary spherocytosis (HS) is a heterogeneous disorder in which abnormalities of red blood cell structural proteins lead to loss of erythrocyte membrane surface area, resulting in spherical-shaped, ...
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Erythrocyte Energy Metabolism in Hereditary Spherocytosis
... diphosphoglyceric acid, and inorganic phosphate has been measured over a period of 6 hours in vitro in red blood cells from normal subjects and from patients with hereditary spherocytosis who had undergone ...
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