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Journal of Clinical Pathology Jun 1991Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing... (Review)
Review
Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these advances have not yet exerted a large influence at therapeutic level, the promise of such advents as prenatal diagnosis make this an exciting field to watch.
Topics: Erythrocyte Membrane; Humans; Spherocytosis, Hereditary; Splenectomy
PubMed: 2066420
DOI: 10.1136/jcp.44.6.441 -
British Journal of Haematology Nov 1977
Review
Topics: Adenosine Triphosphatases; Biological Transport, Active; Calcium; Erythrocyte Membrane; Erythrocytes; Erythrocytes, Abnormal; Humans; Membrane Lipids; Membrane Proteins; Protein Denaturation; Spherocytes; Spherocytosis, Hereditary
PubMed: 146514
DOI: 10.1111/j.1365-2141.1977.tb01000.x -
Indian Pediatrics Feb 2014To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center.
OBJECTIVE
To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center.
METHODS
Retrospective analyses of case records.
RESULTS
The mean (SD) age at diagnosis was 6.7 (2.8) years; 7 (8.5%) were diagnosed in infancy. Pallor (100%), icterus (67%), undocumented fever (28%), splenomegaly (96%) and hepatomegaly (73%) were the most frequent findings. Cholelithiasis was observed in 26%. Twenty-six (32%) underwent splenectomy and were followed for a median duration of 4.5 years. Two (7.7%) children developed post-splenectomy sepsis.
CONCLUSION
Anemia, hepato-splenomegaly and jaundice are commonest clinical features of hereditary spherocytosis. Post-splenectomy sepsis is uncommon.
Topics: Adolescent; Ankyrins; Child; Child, Preschool; Female; Humans; India; Infant; Male; Postoperative Complications; Retrospective Studies; Spherocytosis, Hereditary; Splenectomy; Treatment Outcome
PubMed: 24632695
DOI: 10.1007/s13312-014-0348-5 -
Clinical Pediatrics Mar 2021
Topics: Adolescent; Craniosynostoses; Female; Humans; Male; Siblings; Spherocytosis, Hereditary; Syndrome
PubMed: 33480273
DOI: 10.1177/0009922820987110 -
QJM : Monthly Journal of the... Dec 2018
Topics: Diagnosis, Differential; Eosine Yellowish-(YS); Erythrocytes, Abnormal; Female; Humans; Medical History Taking; Retinal Artery Occlusion; Spherocytosis, Hereditary; Young Adult
PubMed: 30247736
DOI: 10.1093/qjmed/hcy211 -
Lancet (London, England) Aug 1968
Topics: Adult; Aged; Female; Hemochromatosis; Humans; Liver; Liver Diseases; Liver Function Tests; Male; Middle Aged; Spherocytosis, Hereditary; Splenectomy; Veins
PubMed: 4174505
DOI: 10.1016/s0140-6736(68)90648-x -
Neurology India 2018
Topics: Child; Female; Humans; Moyamoya Disease; Spherocytosis, Hereditary; Stroke
PubMed: 30038116
DOI: 10.4103/0028-3886.237016 -
Medicina Clinica Feb 1995
Review
Topics: Diagnosis, Differential; Hematopoiesis, Extramedullary; Humans; Lumbar Vertebrae; Male; Middle Aged; Spherocytosis, Hereditary
PubMed: 7891472
DOI: No ID Found -
Journal of the College of Physicians... Feb 2020Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories: pre-hepatic/hemolytic,...
Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories: pre-hepatic/hemolytic, hepatic/hepatocellular, and post-hepatic/cholestatic. With routine laboratory tests, most cases of jaundice can be etiologically diagnosed. However, exceptions do occur. Here, we present a case of a 14-year girl who presented with intermittent jaundice for one year that could not be diagnosed with a routine protocol. Her laboratory tests showed a moderate impairment of liver function and a positive osmotic fragility test. Computed tomography scan of her upper abdomen revealed multiple gallbladder stones and splenomegaly. With the help of liver pathological examination and exome sequencing, this patient was finally diagnosed as hereditary spherocytosis combined with Gilbert syndrome.
Topics: Adolescent; Biopsy; Diagnosis, Differential; Female; Gilbert Disease; Humans; Liver; Spherocytosis, Hereditary; Exome Sequencing
PubMed: 32036834
DOI: 10.29271/jcpsp.2020.02.213 -
Clinical Pediatrics Jan 1981A retrospective study of 50 patients with hereditary spherocytosis (HS) from 41 families seen between 1967 and 1979 at the Royal Manchester Children's Hospital, and...
A retrospective study of 50 patients with hereditary spherocytosis (HS) from 41 families seen between 1967 and 1979 at the Royal Manchester Children's Hospital, and Booth Hall Children's Hospital, Manchester, England is described. Nineteen patients (38%) had no family history of spherocytosis and in 12 patients (24%), tests on the family showed no evidence of disease. Various modes of inheritance are discussed in the light of these results. The traditional name for the condition (hereditary spherocytosis) is considered unsuitable as it is clearly inaccurate in many cases. The name congenital spherocytosis would be more appropriate.
Topics: Humans; Infant, Newborn; Retrospective Studies; Spherocytosis, Hereditary; Terminology as Topic
PubMed: 7449245
DOI: 10.1177/000992288102000106