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Hereditary Elliptocytosis

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An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.

Also Known As:

Elliptocytosis, Hereditary; Elliptocytoses, Hereditary; Hereditary Elliptocytoses; Hereditary Ovalocytoses; Hereditary Ovalocytosis; Ovalocytoses, Hereditary; Ovalocytosis, Hereditary

Networked: 177 relevant articles (1 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hemolysis
2.	Malaria
3.	Hereditary Spherocytosis
4.	Smith-Lemli-Opitz Syndrome
5.	Thalassemia

Experts

1.	Mohandas, Narla: 7 articles (01/2016 - 01/2003)
2.	Gallagher, Patrick G: 7 articles (02/2014 - 04/2004)
3.	Speicher, David W: 5 articles (02/2014 - 04/2007)
4.	Sugihara, Takashi: 3 articles (07/2015 - 01/2015)
5.	Nakanishi, Hidekazu: 3 articles (07/2015 - 01/2015)
6.	Wada, Hideho: 3 articles (07/2015 - 01/2015)
7.	King, M-J: 3 articles (06/2015 - 04/2011)
8.	Harper, Sandra L: 3 articles (02/2014 - 06/2010)
9.	Gaetani, Massimiliano: 3 articles (10/2013 - 04/2007)
10.	Delaunay, Jean: 3 articles (10/2011 - 01/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Elliptocytosis:

1.	Adenosine Triphosphatases (ATPase)IBA 04/01/1983 - "[Improved hemolysis after splenectomy in a patient of hereditary elliptocytosis with increased Na flux and ATPase activity in red cell membranes]."
2.	SpectrinIBA 05/01/2007 - "Prospective epidemiological and molecular studies in West Africa have confirmed the prevalence (between 0.6 and 1.6%) of particular spectrin mutations related to hereditary elliptocytosis. " 05/15/1998 - "Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis." 08/01/1996 - "Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis." 01/01/1993 - "Biochemical studies on red blood cell membrane cytoskeleton showed that beta-spectrin, alpha-spectrin and protein 4.1, which are usually altered in hereditary elliptocytosis (HE), were normal in our cases. " 07/01/2015 - "However, even patients with hereditary elliptocytosis, who have a partial spectrin deficiency, were found to show reduced EMA binding capacity. "
3.	Membrane Proteins (Integral Membrane Proteins)IBA 09/01/2006 - "Hereditary elliptocytosis was confirmed by specialized investigations (rheological study and erythrocytic membrane proteins electrophoresis). " 12/01/1992 - "We report biochemical studies of membrane proteins performed in a patient with hereditary elliptocytosis (HE). " 03/01/1988 - "[Hereditary elliptocytosis with detection of a membrane protein defect of erythrocytes]." 06/01/1983 - "Red cell membrane proteins have been examined in a family in which three children have severe transfusion-dependent homozygous hereditary elliptocytosis. " 01/01/1982 - "Homozygous hereditary elliptocytosis: implications for the function of membrane protein band 4.1."
4.	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 01/01/2015 - "However, it has been reported that diseases other than HS, such as hereditary pyropoikilocytosis (HPP) and Southeast Asian ovalocytosis (SAO), which are forms in the category of hereditary elliptocytosis (HE), show decreased EMA binding to red blood cells. " 07/01/1994 - "Six individuals with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP) from three unrelated families were evaluated. " 03/01/1992 - "We studied nine individuals from five unrelated families with alpha I/46-50a hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP), including one of the original HHP probands first reported by Zarkowsky and colleagues (1975. " 04/15/1990 - "We describe a white French family in which 12 subjects presented with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP). " 09/01/1987 - "These are clinically expressed as hereditary elliptocytosis (HE) and a closely related disorder, hereditary pyropoikilocytosis (HPP). "
5.	Proteins (Proteins, Gene)IBA 12/01/2013 - "The hereditary elliptocytosis syndromes are the most common primary disorders of erythrocyte membrane proteins. " 09/01/1987 - "Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins." 01/01/2016 - "Inherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations in genes encoding various RBC membrane and skeletal proteins. " 05/01/2003 - "Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis." 12/01/1976 - "In paroxysmal nocturnal hemoglobinuria (PNH), hereditary spherocytosis (HS) and hereditary elliptocytosis, the amount of proteins extracted by these procedures was significantly less than the amount extractable from the ghost of normal and aplastic anemia red cells. "
6.	SodiumIBA 09/01/1966 - "Erythrocyte sodium transport in hereditary elliptocytosis." 09/01/1988 - "Membrane studies on rod-shaped red cells in hereditary elliptocytosis: least haemolysis and normal sodium influx with decreased membrane lipids." 11/01/1987 - "Protein 4.1, an important component of the red cell membrane skeleton, was quantitated relative to protein 3 after sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) of membranes isolated from red cells of members of 14 kindreds with hereditary elliptocytosis (HE) who reside in South Africa. " 12/01/2000 - "The predictive value of this test for membrane abnormality was compared with the results obtained from the sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) method, which is currently the reference laboratory test for the identification of membrane protein deficiencies in hereditary spherocytosis and for the detection of spectrin variants in hereditary elliptocytosis. "
7.	Membrane LipidsIBA 09/01/1985 - "No abnormal Heinz body formation was seen in hereditary spherocytosis, hereditary elliptocytosis or hereditary stomatocytosis with normal membrane lipids, but increased Heinz body formation was observed in some patients with red cell membrane lipid abnormalities. " 09/01/1988 - "Membrane studies on rod-shaped red cells in hereditary elliptocytosis: least haemolysis and normal sodium influx with decreased membrane lipids."
8.	Hemoglobins (Hemoglobin)IBA 01/01/1992 - "Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis." 06/15/2005 - "In a parallel study, P falciparum invasion was investigated in density-fractionated RBCs from healthy subjects and from individuals with inherited RBC abnormalities affecting primarily hemoglobin (Hb) or the RBC membrane (thalassemias, hereditary ovalocytosis, xerocytosis, Hb CC, and Hb CS). "
9.	Cyclosporine (Ciclosporin)FDA LinkGeneric 01/01/1999 - "Besides the effect of physiological aging of normal RBC, the results of a clinical study on malaria tropica, case studies of hereditary elliptocytosis, Smith-Lemli-Opitz syndrome (a cholesterol biosynthesis defect), the treatment of sickle cell crisis with hydroxy-urea as well as the clinical intervention with Cyclosporin, are collected. "
10.	Biological Markers (Surrogate Marker)IBA 08/01/2012 - "The principal aim of this study was to compare hereditary elliptocytosis (HE), hereditary spherocytosis (HS), and control RBC membrane protein profiles and identify proteins as a clinical marker by the sensitive methods. "

Therapies and Procedures

1.	Splenectomy 11/01/1979 - "These studies appear to define the fundamental features of a particular disorder or a variety of hereditary elliptocytosis; characterized by a genetic autosomal dominant character, moderate degree of RBC eccentricity, erythroid dysplasia with relative marrow failure and incomplete response to splenectomy." 04/01/1983 - "[Improved hemolysis after splenectomy in a patient of hereditary elliptocytosis with increased Na flux and ATPase activity in red cell membranes]."
2.	Quantum Dots (Quantum Dot) 06/11/2009 - "Here we use quantum dots to image the diffusion of individual band 3 molecules in the plasma membranes of intact human erythrocytes from healthy volunteers and patients with defects in one of their membrane components, leading to well-known red cell pathologies (hereditary spherocytosis, hereditary elliptocytosis, hereditary hydrocytosis, Southeast Asian ovalocytosis, and hereditary pyropoikilocytosis). "
3.	Lasers (Laser) 01/01/1992 - "Red cell analysis using the laser technique was done on erythrocytes from 11 cases of hereditary ovalocytosis (HV) and one case of hereditary spherocytosis (HS). "