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The New England Journal of Medicine May 1982
Topics: Anemia, Hemolytic; Animals; Erythrocyte Membrane; Humans; Membrane Proteins; Mice; Spectrin; Spherocytosis, Hereditary
PubMed: 7070421
DOI: 10.1056/NEJM198205133061909 -
Journal of Health, Population, and... Feb 2010A 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...
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. History, clinical examination, and laboratory findings of the girl and her family members suggested a case of hereditary spherocytosis. To our knowledge, this is the first report of such a case in Bangladesh.
Topics: Abdomen; Bangladesh; Child; Dehydration; Diagnosis, Differential; Diarrhea; Female; Folic Acid; Genetic Predisposition to Disease; Hematocrit; Hemoglobins; Hepatomegaly; Humans; Leukocyte Count; Oryza; Sodium Chloride; Spherocytosis, Hereditary; Splenomegaly; Ultrasonography; Vitamin B Complex; Vitamins
PubMed: 20214092
DOI: 10.3329/jhpn.v28i1.4529 -
Nihon Rinsho. Japanese Journal of... Sep 1996Hereditary spherocytosis (HS) is a congenital hemolytic anemia characterized by microspherocytosis, increased osmotic fragility of erythrocytes and a favorable response... (Review)
Review
Hereditary spherocytosis (HS) is a congenital hemolytic anemia characterized by microspherocytosis, increased osmotic fragility of erythrocytes and a favorable response to splenectomy. It is now clear that the molecular basis of HS is heterogeneous and that several membrane proteins (spectrin, ankyrin, band 3, and band 4.2) are involved in the pathogenesis of HS. A number of gene abnormalities have recently been identified but mutations specific for clinical phenotypes and racial backgrounds are still unclear. In this report, the clinical features of HS, including its diagnosis and treatment, are briefly outlined, and the current understanding of the pathophysiological aspects of HS is summarized, referring to recent advances in biochemical and molecular genetic analysis.
Topics: Animals; Humans; Mice; Mice, Mutant Strains; Spherocytosis, Hereditary
PubMed: 8890582
DOI: No ID Found -
Archivos Argentinos de Pediatria Apr 2015Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an... (Review)
Review
Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an affected relative, and in the neonate with hyperbilirubinemia with no blood group incompatibility; its early detection is key to avoid kernicterus. Follow-up of these patients is based on periodical control and supply of information on the adequate management of hemolytic or aplastic crisis, and early detection of cholelithiasis. The decision to perform splenectomy is usually associated with quality of life rather than life-threatening risk, and it should result from a consensus between patient, parents and physicians. The postsplenectomy follow-up is based on control of compliance with the prophylactic antibiotic therapy and the early diagnosis of infectious disorders.
Topics: Adolescent; Child; Child, Preschool; Humans; Spherocytosis, Hereditary; Splenectomy; Treatment Outcome
PubMed: 25727830
DOI: 10.5546/aap.2015.168 -
Archivos Argentinos de Pediatria Jan 2015Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the... (Review)
Review
Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.
Topics: Demography; History, 19th Century; History, 20th Century; Humans; Spherocytosis, Hereditary
PubMed: 25622164
DOI: 10.5546/aap.2015.69 -
Journal of Cardiac Surgery Feb 2021Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease,... (Review)
Review
Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease, the safe performance of cardiopulmonary bypass becomes a priority. The increased risk of hemolysis during cardiopulmonary bypass could potentially lead to significant secondary organ damage. Till now, only very few reports of successful repair of a congenital heart defect in patients with hereditary spherocytosis have been reported. We report the only case of successful repair of a congenital heart defect in an infant with hereditary spherocytosis.
Topics: Cardiac Surgical Procedures; Cardiopulmonary Bypass; Humans; Infant; Spherocytosis, Hereditary
PubMed: 33284479
DOI: 10.1111/jocs.15220 -
Bailliere's Best Practice & Research.... Sep 2000Hereditary spherocytosis (HS) is relatively common in Caucasian populations; most individuals have mild or only moderate disease. There is commonly a family history and... (Review)
Review
Hereditary spherocytosis (HS) is relatively common in Caucasian populations; most individuals have mild or only moderate disease. There is commonly a family history and a typical clinical and laboratory picture so that the diagnosis is usually easily made without additional laboratory tests. Atypical cases may require measurement of membrane proteins and molecular genetics to clarify the nature of the membrane disorder. It is particularly important to rule out stomatocytosis because splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 and with appropriate counselling about the risk of infection. In all cases careful dialogue between physician, child and the family is essential. Laparoscopic surgery can result in shorter hospital stay and less pain.
Topics: Erythrocyte Membrane; Folic Acid; Humans; Membrane Proteins; Spherocytosis, Hereditary; Splenectomy
PubMed: 11030038
DOI: 10.1053/beha.2000.0081 -
Clinica Chimica Acta; International... Feb 2015Hereditary spherocytosis is usually diagnosed based on a combination of clinical and family histories, physical examination, and laboratory data. Milder or atypical... (Review)
Review
BACKGROUND
Hereditary spherocytosis is usually diagnosed based on a combination of clinical and family histories, physical examination, and laboratory data. Milder or atypical cases can be difficult to diagnose.
METHODS
We report one case each of mild and moderate hereditary spherocytosis whose diagnoses were made by the First Affiliated Hospital, Guangxi Medical University in China.
RESULTS
In case 1, laboratory test results were as follows: hemoglobin 81.40 g/l, mean corpuscular hemoglobin concentration 339.00 g/l, mean corpuscular volume 82.88 fl, reticulocyte count 19%, mean sphered corpuscular volume 71.66 fl, total bilirubin 57.60 μmol/l, and blood smears showed increased spherocytosis. In case 2, laboratory test results were as follows: hemoglobin 133.10 g/l, mean corpuscular hemoglobin concentration 358.60 g/l, mean corpuscular volume 96.75 fl, reticulocyte count 17%, mean sphered corpuscular volume 77.78 fl, total bilirubin 62.50 μmol/l, and blood smears showed increased spherocytosis.
CONCLUSIONS
Mild and moderate hereditary spherocytosis can be easily misdiagnosed. Assessment of total, direct, and indirect serum bilirubin, erythrocyte morphology and red cell characteristics (particularly mean corpuscular volume and mean sphered corpuscular volume) clearly distinguishes hereditary spherocytosis from autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, thalassemia, and autoimmune hepatitis.
Topics: Adult; China; Diagnostic Errors; Hematologic Tests; Humans; Infant; Male; Spherocytosis, Hereditary
PubMed: 25485852
DOI: 10.1016/j.cca.2014.12.002 -
JAMA Nov 1989
Topics: Adult; Erythrocyte Membrane; Erythrocytes, Abnormal; Female; Humans; Spherocytosis, Hereditary
PubMed: 2810625
DOI: No ID Found -
South African Medical Journal =... May 1972
Topics: Glomerulonephritis; Humans; Male; Spherocytosis, Hereditary
PubMed: 5039015
DOI: No ID Found