Spherocytosis, hereditary
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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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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Original Article A novel mutation in the ANK1 gene causes hereditary spherocytosis in a Chinese patient
... Hereditary spherocytosis (HS) is the most com- mon hemolytic anemia induced by abnormal red blood cell membrane and is characterized by the production of spherocytes red blood cells, behaving as anemia, ...
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PARVOVIRUS B19 ASSOCIATED HAEMOPHAGOCYTIC LYMPHOHISTIOCYTISIS IN HEREDITARY SPHEROCYTOSIS PATIENT: A CASE REPORT
... HLH is a difficult diagnosis to make as it can be easily confused with any infective process and not all of the above clinical signs are present. It is the magnitude of clinical symptoms and laboratory abnormalities and ...
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Incorporation of orthophosphate 32P into erythrocyte phospholipids in normal subjects and in patients with hereditary spherocytosis
... The in vitro incorporation of inorganic 32 P into erythrocyte phospholipids has been studied in normal subjects and in splenectomized patients with hereditary spherocytosis (HS). Phosphatidic acid (PA) was ...
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Reductions of erythrocyte membrane viscoelastic coefficients reflect spectrin deficiencies in hereditary spherocytosis
... Hereditary spherocytosis is a common hemolytic anemia associated with deficiencies in spectrin, the principal structural protein of the erythrocyte ...10 spherocytosis kindreds and 2 elliptocytosis ...
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Mutation of a barrier insulator in the human ankyrin 1 gene is associated with hereditary spherocytosis
... of hereditary spherocytosis, an inherited anemia that affects patients of all ethnic ...–108/–153 spherocytosis-associated mutations failed to function as barrier insulators in vivo and demonstrated ...
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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
... Conclusion: We collected and reviewed several case reports of patients with hereditary spherocytosis aged > 18 years with human parvovirus B19 infection between 1984 and 2010. A total of 19 reports with ...
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A de novo ANK1 mutation associated to hereditary spherocytosis: a case report
... Hereditary spherocytosis (HS) results from defects in erythrocyte membrane proteins characterized by hemolysis, anemia, jaundice, gallstones and splenomegaly [1, ...
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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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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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Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report
... Hereditary spherocytosis is a genetic disease affecting membrane proteins of the erythrocytes responsible for interactions with the ...with hereditary spherocytosis complicated by re- current ...
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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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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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Red cell survival studies in hereditary spherocytosis
... of hereditary spherocytes has been investigated with the 51 Cr red cell survival ...with hereditary spherocytosis, showed that “foreign” spherocytes have a shorter survival than the “self” ...
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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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Paravertebral Mass in a Patient with Hemolytic Anemia: Computed Tomographic Findings
... Extramedullary hematopoiesis is characterized by the presence of hematopoietic tissue outside of the bone marrow and is typically associated with chronic hemolytic anemias. Intrathoracic extramedullary hematopoiesis is a ...
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