Absence of phosphorylation-induced gelation of erythrocyte membrane skeletons: A diagnostic tool for hereditary spherocytosis

1992 ◽  
Vol 64 (2) ◽  
pp. 93-96
Author(s):  
R. Armbrust ◽  
S. W. Eber ◽  
W. Schröter
Keyword(s):  
Erythrocyte Membrane ◽  
Diagnostic Tool ◽  
Hereditary Spherocytosis ◽  
Membrane Skeletons

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.

scholarly journals A novel SPTB gene mutation in neonatal hereditary spherocytosis: a case report and literature review

2019 ◽  
Author(s):  
Yang Liu ◽  
Li Song ◽  
Jianbo Shu ◽  
Yulian Fang ◽  
Chao Sun ◽  
...  
Keyword(s):  
Literature Review ◽  
Erythrocyte Membrane ◽  
Peripheral Blood ◽  
Hereditary Spherocytosis ◽  
Novel Mutation ◽  
Gene Sequencing ◽  
Peripheral Blood Smear ◽  
Normal Function ◽  
New Mutation ◽  
Pathogenic Genes

Abstract Background: To enhance our understanding on the diagnosis and treatment of neonatal hereditary spherocytosis (HS). Methods: We summarized the clinical data and gene test results of a neonatal HS caused by a new mutation of SPTB gene. Meanwhile, a comprehensive literature review was performed. Gene sequencing and analysis was carried out for the crucial splicing signals on the exons and introns of the 302 known pathogenic genes (e.g. ANK1, SPTA1, EPB42, SLC4A1 and SPTB) associated with the genetic deficiency of erythrocyte. Results: A 26-day-old girl presented jaundice, anemia, an increased count in peripheral blood reticulocyte and spherocyte, as well as positive findings in the acidified glycerol hemolysis test. Gene sequencing revealed a new mutation of c.3737delA P. (Lys1246fs) in the exon 16 of SPTB (14q23 | NM_000347.5) gene in the patient and her father. The mutation was a frame-shifting mutation, which may result in truncation of beta-haemoglobin in erythrocyte membrane and loss of its normal function, leading to the occurrence of diseases. Conclusion: For the neonates with jaundice and anemia, family history, erythrocyte index and peripheral blood smear findings contributed to the diagnosis of HS. Gene sequencing is helpful for the diagnosis. We identified a novel mutation of SPTB gene, which may be pathogenic through modulating the activity of β-spectrin in the erythrocyte membrane.

Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population

Hematology ◽  
2012 ◽  
Vol 17 (4) ◽  
pp. 232-236 ◽  
Author(s):  
Aylin Canbolat Ayhan ◽  
Inci Yildiz ◽  
Sedef Yüzbaşıoğlu ◽  
Tiraje Celkan ◽  
Hilmi Apak ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Erythrocyte Membrane ◽  
Hereditary Spherocytosis ◽  
Turkish Population ◽  
Erythrocyte Membrane Protein

Flow Cytometry as a Diagnostic Tool for Hereditary Spherocytosis

2006 ◽  
Vol 116 (3) ◽  
pp. 186-191 ◽  
Author(s):  
Gudrun Stoya ◽  
Bernd Gruhn ◽  
Heinz Vogelsang ◽  
Eckehard Baumann ◽  
Werner Linss
Keyword(s):  
Flow Cytometry ◽  
Diagnostic Tool ◽  
Hereditary Spherocytosis

Erythrocyte Membrane Vacuole Formation in Hereditary Spherocytosis

1974 ◽  
Vol 26 (1) ◽  
pp. 59-69 ◽  
Author(s):  
Stanley L. Schrier ◽  
Isaac Ben-Bassat ◽  
Klaus Bensch ◽  
Muriel Seeger ◽  
Irene Junga
Keyword(s):  
Erythrocyte Membrane ◽  
Hereditary Spherocytosis ◽  
Vacuole Formation

scholarly journals Cryohemolysis test as a diagnostic tool for hereditary spherocytosis

1999 ◽  
Vol 78 (12) ◽  
pp. 555-557 ◽  
Author(s):  
A. Iglauer ◽  
D. Reinhardt ◽  
W. Schröter ◽  
A. Pekrun
Keyword(s):  
Diagnostic Tool ◽  
Hereditary Spherocytosis
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