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Pediatric Clinics of North America Dec 2013Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis... (Review)
Review
Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Growing recognition of the long-term risks of splenectomy has led to re-evaluation of the role of splenectomy. Management guidelines acknowledge these considerations and recommend discussion between health care providers, patient, and family. The hereditary elliptocytosis syndromes are the most common primary disorders of erythrocyte membrane proteins. However, most elliptocytosis patients are asymptomatic and do not require therapy.
Topics: Anemia, Hemolytic, Congenital; Elliptocytosis, Hereditary; Erythrocyte Membrane; Erythrocytes; Humans; Spherocytosis, Hereditary; Splenectomy
PubMed: 24237975
DOI: 10.1016/j.pcl.2013.09.001 -
JAMA Feb 1977The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed,...
The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed, with emphasis on the frequency of multiple inherited RBC defects in this ethnic group. Despite a coexisting hemoglobinopathy or enzyme deficiency, HS can be diagnosed in most cases by the peripheral blood smear, osmotic fragility curve, and family history. The implications of the double RBC abnormality are discussed, stressing the importance of splenectomy in relieving the hemolytic component due to spherocytosis.
Topics: Adult; Black People; Glucosephosphate Dehydrogenase Deficiency; Humans; Male; Spherocytosis, Hereditary; United States
PubMed: 576320
DOI: No ID Found -
Journal of Glaucoma Dec 2018To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in 2 individuals in a family.
PURPOSE
To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in 2 individuals in a family.
PATIENT
A 66-year-old man with normal pressure glaucoma and hereditary spherocytosis.
RESULTS
This patient presented with a branch retinal vein occlusion, and normal tension glaucoma that was incidentally detected. Further history revealed that the patient's maternal grandmother also had hereditary spherocytosis and glaucoma.
CONCLUSIONS
We hypothesize that glaucoma and hereditary spherocytosis may be associated. Hereditary spherocytosis may be a potential risk factor for glaucoma by causing impaired blood supply to the optic nerve.
Topics: Aged; Ankyrins; Humans; Incidental Findings; Intraocular Pressure; Low Tension Glaucoma; Male; Nerve Fibers; Retinal Ganglion Cells; Retinal Vein Occlusion; Spherocytosis, Hereditary; Tomography, Optical Coherence; Visual Acuity
PubMed: 30180017
DOI: 10.1097/IJG.0000000000001075 -
American Journal of Ophthalmology Apr 1984We examined members of a family in whom hereditary spherocytosis had appeared in three generations. Angioid streaks were confirmed in the second generation and presumed...
We examined members of a family in whom hereditary spherocytosis had appeared in three generations. Angioid streaks were confirmed in the second generation and presumed to exist in the first generation. A woman in the third generation with hereditary spherocytosis did not have angioid streaks but these are age-related and may develop later. The one individual in the second generation without hereditary spherocytosis did not have angioid streaks. Angioid streaks associated with hereditary spherocytosis in this family did not appear to be coincidental. Patients with hereditary spherocytosis should be examined for angioid streaks because of the implications for their vision.
Topics: Adult; Age Factors; Aged; Calcinosis; Choroid; Eye Diseases; Female; Humans; Male; Middle Aged; Pedigree; Spherocytosis, Hereditary
PubMed: 6720816
DOI: 10.1016/s0002-9394(14)76127-6 -
Blood Cells, Molecules & Diseases Jul 2022
Topics: Cytoskeletal Proteins; Female; Hematopoietic Stem Cell Transplantation; Humans; Hydrops Fetalis; Spherocytosis, Hereditary
PubMed: 35483216
DOI: 10.1016/j.bcmd.2022.102664 -
Revista Chilena de Pediatria 1987
Review
Topics: Blood Transfusion; Diagnosis, Differential; Female; Humans; Infant, Newborn; Male; Phototherapy; Retrospective Studies; Spherocytosis, Hereditary
PubMed: 3327103
DOI: No ID Found -
Computerized Medical Imaging and... 1995The magnetic resonance findings of intrathoracic extramedullary hematopoiesis associated with bone marrow reconversion, and reticuloendothelial hemosiderosis in a...
The magnetic resonance findings of intrathoracic extramedullary hematopoiesis associated with bone marrow reconversion, and reticuloendothelial hemosiderosis in a 50-years-old are reported. Radiologic finding of extramedullary hematopoiesis was the first step to the diagnosis of previously unknown hereditary spherocytosis.
Topics: Bone Marrow; Hematopoiesis, Extramedullary; Humans; Magnetic Resonance Imaging; Male; Mediastinum; Middle Aged; Muscle, Skeletal; Spherocytosis, Hereditary; Thoracic Vertebrae
PubMed: 7780951
DOI: 10.1016/0895-6111(95)00004-a -
Clinical and Laboratory Haematology Jun 1994
Review
Topics: Child, Preschool; Histiocytosis, Non-Langerhans-Cell; Humans; Male; Pancytopenia; Parvoviridae Infections; Parvovirus B19, Human; Spherocytosis, Hereditary; Tumor Necrosis Factor-alpha
PubMed: 7955926
DOI: 10.1111/j.1365-2257.1994.tb00404.x -
American Journal of Hematology Feb 2013
Topics: Alleles; Anion Exchange Protein 1, Erythrocyte; Cohort Studies; DNA Mutational Analysis; Exons; Genetic Association Studies; Heterozygote; Humans; Introns; Mutation; RNA, Messenger; Spectrin; Spherocytosis, Hereditary
PubMed: 23255290
DOI: 10.1002/ajh.23363 -
Xianggang Hu Li Za Zhi. the Hong Kong... May 1983
Topics: Humans; Spherocytosis, Hereditary
PubMed: 6228507
DOI: No ID Found