elliptocytosis


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elliptocytosis

 [e-lip″to-si-to´sis]
any of several hereditary disorders in which most of the erythrocytes are elliptocytes; it is characterized by increased erythrocyte destruction and anemia.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

el·lip·to·cy·to·sis

(ē-lip'tō-sī-tō'sis),
A hematologic disorder in which 50-90% of the red blood cells consist of rod forms and elliptocytes; often associated with a hemolytic anemia. There are several autosomal dominant forms [MIM*130500, MIM*130600, and MIM*179650], with one form linked to the Rh blood group, caused by mutation in the gene encoding erythrocyte membrane protein band 4.1 (EPB41) on chromosome 1p, whereas the unlinked form is due to mutation either in the alpha-spectrin gene on 1q, or in the beta-spectrin gene on 14q or the band 3 gene on 17q. There is one autosomal recessive form [MIM*225450] known.
Synonym(s): ovalocytosis
Farlex Partner Medical Dictionary © Farlex 2012

el·lip·to·cy·to·sis

(ē-lip'tō-sī-tō'sis)
A hereditary abnormality of hemopoiesis in which 50-90% of the red blood cells consist of rod forms and elliptocytes, often with an associated hemolytic anemia.
Synonym(s): ovalocytosis.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

elliptocytosis

Oval-shaped red blood cells. A small proportion of oval cells occurs in MEGALOBLASTIC ANAEMIA and HYPOCHROMIC ANAEMIA. A high proportion suggests an unimportant dominant hereditary disorder.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

el·lip·to·cy·to·sis

(ē-lip'tō-sī-tō'sis)
A hereditary abnormality of hemopoiesis in which 50-90% of the red blood cells consist of rod forms and elliptocytes.
Synonym(s): ovalocytosis.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
Hereditary elliptocytosis: spectrin and protein 4.1 R.
This case report describes a unique case of acquired elliptocytosis presumably related to MDS, with a high percentage of ring sideroblasts.
While the causal factor(s) leading to acquisition of elliptocytosis in cases of MDS have not been definitively identified, several cases have noted decreased levels of human erythroid protein 4.1 in association with del(20q) [9-11].
A correlation between deletions on the long arm of chromosome 20 and acquisition of elliptocytosis in MDS has emerged since the first patient with acquired elliptocytosis in what we now call MDS was reported by Hartz et al.
Gallagher, "Hereditary elliptocytosis: spectrin and protein 4.1R," Seminars in Hematology, vol.
Cho et al., "Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome," Clinical and Laboratory Haematology, vol.
Hamasaki, "Abnormal erythrocyte band 4.1 protein in myelodysplastic syndrome with elliptocytosis," British Journal of Haematology, vol.
Kobayashi et al., "Elliptocytosis in myelodysplastic syndrome associated with translocation (1;5)(p10;q10) and deletion of 20q," Cancer Genetics and Cytogenetics, vol.
Scharyj, "Marked elliptocytosis and schistocytosis in hematopoietic dysplasia," American Journal of Clinical Pathology, vol.
Criel et al., "Elliptocytosis and schistocytosis in myelodysplasia: report of two cases," Acta Haematologica, vol.
Eveillard, "Acquired elliptocytosis in the setting of a refractory anemia with excess blasts and del(20q)," Blood, vol.