scholarly journals Hereditary Elliptocytosis

2020 ◽  
Author(s):  
Keyword(s):  
Hereditary Elliptocytosis

scholarly journals Hereditary elliptocytosis with protein band 4.1 deficiency in the dog

Blood ◽  
1983 ◽  
Vol 61 (2) ◽  
pp. 373-377 ◽  
Author(s):  
JE Smith ◽  
K Moore ◽  
M Arens ◽  
GA Rinderknecht ◽  
A Ledet
Keyword(s):  
Animal Model ◽  
Membrane Protein ◽  
Erythrocyte Membrane ◽  
Protein Band ◽  
Erythrocyte Deformability ◽  
Membrane Stability ◽  
Osmotic Sensitivity ◽  
Hereditary Elliptocytosis ◽  
Membrane Cytoskeleton ◽  
Glutathione Deficiency

Abstract A dog with persistent elliptocytosis was studied. The dog had membrane protein band 4.1 deficiency, microcytosis, shortened erythrocyte lifespan, increased osmotic sensitivity, and a mild glutathione deficiency. Erythrocyte deformability and membrane stability were adversely effected. The dog's parents had decreased band 4.1, decreased stability, and some elliptocytosis. This disorder in dogs closely resembles human patients with band 4.1 deficiency and should provide a valuable animal model to study the erythrocyte membrane cytoskeleton.

Hereditary elliptocytosis and pyropoikilocytosis

Haematology ◽  
2021 ◽  
pp. 174-175
Keyword(s):  
Hereditary Elliptocytosis

scholarly journals Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen

1991 ◽  
Vol 266 (13) ◽  
pp. 8490-8494 ◽  
Author(s):  
S.H. Yoon ◽  
H. Yu ◽  
S. Eber ◽  
J.T. Prchal
Keyword(s):  
Molecular Defect ◽  
Hereditary Elliptocytosis

Hereditary Elliptocytosis with a Spectrin Molecular Defect in a White Patient

1984 ◽  
Vol 71 (4) ◽  
pp. 235-240 ◽  
Author(s):  
M.C. Lecomte ◽  
D. Dhermy ◽  
M. Garbarz ◽  
H. Gautero ◽  
O. Bournier ◽  
...  
Keyword(s):  
White Patient ◽  
Molecular Defect ◽  
Hereditary Elliptocytosis

scholarly journals Disorders of the erythrocyte membrane

2015 ◽  
Vol 9 (4) ◽  
pp. 323
Author(s):  
Sophia Delicou ◽  
Aikaterini Xydaki ◽  
Chryssanthi Kontaxi ◽  
Konstantinos Maragkos
Keyword(s):  
Surface Area ◽  
Erythrocyte Membrane ◽  
Structural Integrity ◽  
Mechanical Stability ◽  
Hereditary Spherocytosis ◽  
Membrane Surface ◽  
Membrane Skeleton ◽  
Inherited Disorders ◽  
Hereditary Elliptocytosis ◽  
Area Loss

Hemolytic anemia due to abnormalities of the erythrocyte membrane comprises an important group of inherited disorders. These include hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and the hereditary stomatocytosis syndromes. The erythrocyte membrane skeleton composed of spectrin, actin, and several other proteins is essential for the maintenance of the erythrocyte shape, reversible deformability, and membrane structural integrity in addition to controlling the lateral mobility of integral membrane proteins. These disorders are characterized by clinical and laboratory heterogeneity and, as evidenced by recent molecular studies, by genetic heterogeneity. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease severity is primarily dependent on the extent of membrane surface area loss. Treatment with splenectomy is curative in most patients.

The Combination of Hereditary Elliptocytosis with Heterozygous Beta-Thalassaemia

1963 ◽  
Vol 30 (4) ◽  
pp. 215-220 ◽  
Author(s):  
Muzaffer Aksoy
Keyword(s):  
Hereditary Elliptocytosis ◽  
Beta Thalassaemia

scholarly journals Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis

Blood ◽  
1987 ◽  
Vol 70 (3) ◽  
pp. 766-772
Author(s):  
T Coetzer ◽  
J Lawler ◽  
JT Prchal ◽  
J Palek
Keyword(s):  
Hemolytic Anemia ◽  
Genetic Defect ◽  
Clinical Severity ◽  
Lower Percentage ◽  
Structural Abnormality ◽  
Clinical Expression ◽  
Related Disorder ◽  
Asymptomatic Carriers ◽  
Hereditary Elliptocytosis ◽  
Self Association

The clinical severity of common hereditary elliptocytosis (HE) is highly variable, ranging from an asymptomatic carrier state to a severe hemolytic anemia. To elucidate the molecular basis of this variable clinical expression, we evaluated 56 subjects from 24 HE kindred, who carry alpha spectrin mutants characterized by a spectrin dimer (SpD) self-association defect related to a structural abnormality of the alpha I domain of spectrin. Twenty-nine subjects had common HE, 13 subjects have a closely related disorder, hereditary pyropoikilocytosis (HPP), and 14 are asymptomatic carriers. We compared the severity of hemolysis with the following biochemical parameters: (a) spectrin heterodimer self-association, as manifested by the percentage of SpD in the 4 degrees C low ionic strength spectrin extract; (b) spectrin structure, as examined by limited tryptic digestion of spectrin; and (c) spectrin content of the RBC membrane. Our analysis indicates that the severity of hemolysis may be correlated with quantitative differences in the percentage of SpD in the 4 degrees C spectrin extract, as well as the total spectrin content of the membrane. Thus, HPP subjects, who have the most severe hemolytic anemia, have the highest percentage of SpD as well as a decreased spectrin content. HE subjects and asymptomatic carriers, respectively, have a lower percentage of SpD and a normal spectrin content. Factors influencing these two determinants include functional differences between the individual spectrin mutants, the relative amounts of mutant spectrin present in the cells, the stability of mutant spectrin, and the possibility of a superimposed genetic defect involving spectrin synthesis.

scholarly journals Reduced Spectrin-Ankyrin Binding in a South African Hereditary Elliptocytosis Kindred Homozygous for Spectrin St Claude

Blood ◽  
1998 ◽  
Vol 92 (7) ◽  
pp. 2591-2593
Author(s):  
Jonathan P.W.G. Burke ◽  
Deon Van Zyl ◽  
Stan S. Zail ◽  
Theresa L. Coetzer
Keyword(s):  
South African ◽  
Hereditary Elliptocytosis

Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(−) hereditary elliptocytosis

1995 ◽  
Vol 5 (4) ◽  
pp. 339-340 ◽  
Author(s):  
M. Garbarz ◽  
I. Devaux ◽  
O. Bournier ◽  
B. Grandchamp ◽  
D. Dhermy
Keyword(s):  
Novel Mutation ◽  
Initiation Codon ◽  
Protein 4.1 ◽  
Hereditary Elliptocytosis
Sign in / Sign up

Export Citation Format

Share Document