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Erythrocyte Membrane Abnormality


  • We present two cases of HS treated by subtotal splenectomy, alongside the advantages and disadvantages of this therapy.[ncbi.nlm.nih.gov]
  • An assortment of membrane receptors and antigens are present on various integral membrane proteins.[oncohemakey.com]
  • A structural abnormality of spectrin is present in which RBCs fragment when heated to only 45 C. Normal RBCs fragment at 49 C.[med-ed.virginia.edu]
  • PPLP2-positive vesicular structures are present in the cytoplasm of trophozoites (TZ) and schizonts (SZ).[phenoplasm.org]
  • Hereditary ElliptocytosisClinical presentation depends upon degreeof membrane defect.Asymptomatic diagnosed on blood film.Chronic compensated hemolytic state. 21.[slideshare.net]
Palpable Spleen
  • Splenomegaly is the rule, and in large family studies, palpable spleens have been detected in more than 75% of affected members. No apparent correlation has been shown between spleen size and disease severity, but it may exist.[oncohemakey.com]
  • Anemia, Hemolytic, Congenital/blood* Anemia, Hemolytic, Congenital/complications Anemia, Hemolytic, Congenital/surgery Elliptocytosis, Hereditary/blood* Elliptocytosis, Hereditary/complications Elliptocytosis, Hereditary/surgery Erythrocyte Membrane[ncbi.nlm.nih.gov]
  • .: Congenital hemolytic anemia with high-sodium, low-potassium red cells. New Engl. J. Med. 280 , 909 (1969) PubMed Google Scholar 18.[link.springer.com]
  • Four new chapters cover anemias unique to the newborn period, pathology of LHC and other histiocytic disorders, tumors of the spleen, and pathology and classification of myeloproliferative disorders and mast cell disease.[books.google.com]
  • anemia associated with ulcerative colitis Hemolytic anemia, hereditary Hemolytic anemia, lymphoproliferative disease Hemolytic anemia, with ulcerative colitis Hereditary hemolytic anemia Clinical Information A congenital hemolytic anemia caused by defects[icd10data.com]
  • Membrane Potential 223 Active Transport 224 Properties of the Na K Pump 225 7 Transport Modes of the Na K Pump 227 Ion Selectivity of the Na K Pump 228 Ouabain and the Na K Pump 229 References 231 General Principles MICHAEL J JACKSON 1 Introduction 235 Weak[books.google.com]
  • The principal defect in the erythrocyte is a mechanical weakness caused by abnormalities in the proteins involved in the membrane skeleton, including α-spectrin, β-spectrin, protein 4.1, and glycophorin C.[mhmedical.com]
  • Membrane protein-protein and protein-lipid interactions are often divided into two categories: (1) vertical interactions, which are perpendicular to the plane of the membrane and involve spectrin-ankyrin-band 3-protein 4.2 interactions and weak interactions[oncohemakey.com]
  • The text continues its tradition of correlating basic science with the clinical practice of hematology and is organized to help physicians find clinical answers quickly and easily.[books.google.com]
  • Trans Assoc Am Physicians 1988 ; 101: 149 –54. 31. Winkelmann JC, Chang J-G, Tse WT, Scarpa AL, Marchesi VT, Forget BG. . Full-length sequence of the cDNA for human erythroid β-spectrin . J Biol Chem 1990 ; 265: 11827 –32. 32.[nejm.org]
Family History of Anemia
  • .– If present, family history of anemia and/orsplenectomy.– Immune spherocytosis  positive directCoombs test. 15. Hereditary SpherocytosisDiagnosis– Splenomegaly can also be seenCirrhosis.Clostridial infections.G6PD deficiency. 16.[slideshare.net]
  • There is a wide range of measured values for K of RBCs that fall into two groupings. (1) Values reported from micropipette-based studies are in the range of 300-500 mN/m ( Evans,1973 ; Waugh and Evans,1979 ). (2) Recently, measurements based on dynamic[intechopen.com]
Scleral Icterus
  • An increase in scleral icterus and a darker urine color is commonly seen in children with nonspecific viral infections. Even when patients have no detectable jaundice, there is usually laboratory evidence of ongoing hemolysis.[oncohemakey.com]
  • Forget BG, Chang JG, Coupal E, et al. . Molecular genetics of the human β-spectrin gene . Trans Assoc Am Physicians 1988 ; 101: 149 –54. 31. Winkelmann JC, Chang J-G, Tse WT, Scarpa AL, Marchesi VT, Forget BG. .[nejm.org]
  • In: Handin RI, Lux SE, Stossel TP (eds) Blood: Principles and Practice of Hematology Lippincott: Philadelphia 1995 pp 1701–1818 3 Gallagher PG, Forget BG, Lux SE. Disorders of the erythrocyte membrane.[nature.com]
  • (Reprinted with permission from Gallagher PG, Tse WT, Forget BG. Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton. Semin Perinatol 1990;14:352.) FIGURE 27.4.[oncohemakey.com]
  • Membranes 437 Ion Movements in Skeletal Muscle in Relation to the Activation 449 Excitable Tissues The Heart 469 Ion Transport through LigandGated Channels 491 Biogenesis Membrane Localization and Regulation 498[books.google.com]


Coombs Negative Hemolytic Anemia
  • Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia: evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane . J Clin Invest 1988 ; 81: 893 –901. 13.[nejm.org]
Karyotype Abnormal
  • abnormalities involving deletions or translocations of the ankyrin-1 gene locus on chromosome 8p.[oncohemakey.com]


  • Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Growing recognition of the long-term risks of splenectomy has led to re-evaluation of the role of splenectomy.[ncbi.nlm.nih.gov]
  • […] mild anemia if anemia at all compensated by increased erythropoieisis as in spherocytosis young cells and reticulocytes are normal in shape ....elliptocytes formed during circulation sometimes more severe -poikilocytosis Osmotic fragility test- normal treatment[quizlet.com]
  • Hereditary SpherocytosisTreatment– Acute, severe hemolytic crises requirestransfusion. 18. Hereditary ElliptocytosisHeterogeneous disorders in elliptocytic redcells.[slideshare.net]
  • We have investigated the fatty acid composition of red blood cells and the effect of treatment with n-3 fatty acids on blood parameters.[londonmet.ac.uk]


  • While it seems likely that some of these play an important role in sickle cell disease (SCD) pathophysiology, their etiology remains obscure. This application is divided into three interrelated projects.[grantome.com]
  • A contribution to etiology, genetics, and diagnosis. Bosman, G.J., Bartholomeus, I.G., De Grip, W.J., Horstink, M.W. Brain Res.[wikigenes.org]
  • Thirty percent to 50% of adult HS patients report a history of neonatal jaundice and the diagnosis of HS is prominent in etiologic studies of severe neonatal hyperbilirubinemia. 70, 71 The magnitude of hyperbilirubinemia may be severe, requiring phototherapy[oncohemakey.com]
  • In our study, only 1 out of 11 (9%) had ademonstrable deficiency of spectrin but 4 out of 11 (36%) had ankyrin deficiency, which appeared to be one of the two most important etiological factors with band 3.[annsaudimed.net]


  • Relevant External Links for EPB41L1 Genetic Association Database (GAD) EPB41L1 Human Genome Epidemiology (HuGE) Navigator EPB41L1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: EPB41L1 No data available for Genatlas for EPB41L1 Gene Excess[genecards.org]
  • Daak AA, Elsamani E, Ali EH, Mohamed FA, Abdel-Rahman ME, Elderdery AY, Talbot O, Kraft P, Ghebremeskel K, Elbashir MI, Fawzi W (2016) Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices.[londonmet.ac.uk]
Sex distribution
Age distribution


  • While it seems likely that some of these play an important role in sickle cell disease (SCD) pathophysiology, their etiology remains obscure. This application is divided into three interrelated projects.[grantome.com]
  • RBC deformability can be significantly altered by various pathophysiological conditions, and the alterations in RBC deformability in turn influence pathophysiology, since RBC deformability is an important determinant of blood viscosity and thus blood[intechopen.com]
  • Pathophysiology of hereditary spherocytosis (HS). The primary defect in HS is a deficiency of membrane surface area, leading to the formation of spherocytes.[oncohemakey.com]
  • Erythrocytes, Abnormal with chemical compounds BACKGROUND: Solute(s) retained during uraemia cause increased exposure of aminophospholipid phosphatidylserine (PS) on the outer surface of erythrocyte membranes, and this phenomenon may be involved in the pathophysiology[wikigenes.org]


  • Peters LL, Shivdasani RA, Liu SC, et al. (1996) Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86: 917–927.[els.net]
  • Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome. Harpey, J.P., Charpentier, C., Goodman, S.I., Darbois, Y., Lefèbvre, G., Sebbah, J. J.[wikigenes.org]
  • Daak A, Ghebremeskel K, Clough P, Elbashir M, Attalla B, Hassan Z and Crawford MA (2010) The effect of omega 3 fatty acids on prevention of vaso-occlusive crisis in homozygous sickle cell disease. 9th International Meeting for the Study of Fatty acids[londonmet.ac.uk]

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