We present two cases of HS treated by subtotal splenectomy, alongside the advantages and disadvantages of this therapy. [ncbi.nlm.nih.gov]

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]

Harvard Medical School, Boston, Massachusetts, USA Published online: January 2006 DOI: 10.1038/npg.els.0006094 Full Article on Wiley Online Library Abstract Erythrocyte membrane disorders, such as hereditary spherocytosis and elliptocytosis, usually present [els.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

  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]

  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]

  Congenital hemolytic anemia with high-sodium, low-potassium red cells. New Engl. J. Med. 280, 909 (1969) PubMed Google Scholar 18. [link.springer.com]

  Hemoglobinopathies-defective globin synthesis Thalassemias - decreased or absent chain production Membrane structural defects enzyme defects in rbc metabolism Acquired hemolytic anemias Paroxysmal nocturnal hemoglobinuria Destruction anemias caused by [quizlet.com]

• Family History of Anemia

  Hereditary SpherocytosisDiagnosis– Must be distinguished primarily from thespherocytic hemolytic anemias associated withRBC antibodies.– If present, family history of anemia and/orsplenectomy.– Immune spherocytosis  positive directCoombs test. 15. [slideshare.net]

• 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]

• Excitement

  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

  […] absent expression of the mutant allele. 34 Around 15% to 20% of these mutations arise de novo. 49 A few cases of spectrin/ankyrin-deficient HS are associated with mutations in the ankyrin gene erythroid promoter. 50, 51, 52 HS has been associated with karyotypic [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]

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]

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]

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]

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]