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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Elliptocytosis 1
Overview
Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by {24:McGuire et al., 1988}).
Genetic Heterogeneity of Elliptocytosis
Elliptocytosis-2 ({130600}) is caused by mutation in the SPTA1 gene ({182860}). Elliptocytosis-3 ({617948}) is caused by mutation in the SPTB gene ({182870}). Elliptocytosis-4 ({166900}), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene ({109270}). Also see pyropoikilocytosis ({266140}).
See {11:Delaunay (2007)} for a discussion of the molecular basis of hereditary red cell membrane disorders. Source: Online Mendelian Inheritance in Man
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
Displaying 1-4 of 4 results.
The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
Educational Resources
Publications, links to patient conferences and webinars
Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.