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Overhydrated Hereditary Stomatocytosis



  • Immunocytochemistry and Western blotting revealed that in OHSt patients, the protein was present in spleen, liver, neutrophils, platelets, monocytes, and about 50% of the peripheral lymphocytes, with the same distribution as in healthy controls.[ncbi.nlm.nih.gov]
  • In erythroid cell cultures from OHSt patients, stomatin-immunoreactivity (stomatin-IR) was present in progenitor cells but remained restricted to the area of the multivesicular complexes and the nucleus in the developing cells and was not seen in the[ncbi.nlm.nih.gov]
  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.de]
  • Acronym OHST Synonyms Hereditary, overhydrated, cation-leak stomatocytosis OHS Overhydrated cation leak stomatocytosis Potassium sodium disorder of erythrocyte Keywords Any medical or genetic information present in this entry is provided for research,[uniprot.org]
  • The gene responsible for both dehydrated hereditary stomatocytosis and familial pseudohyperkalemia, a nonhemolytic variant that presents with high plasma K levels, has been mapped to 16q23-qter.[ncbi.nlm.nih.gov]
  • […] sphercoytes -treatment: splenectomy -acute alcoholism -other causes Acanthocytes (Spurr cells) -small, dense RBCs with a few irregular projections that vary in width, length, and surface distribution -found in severe liver disease, neuroacanthocytosis, malnutrition[quizlet.com]
  • ACANTHOCYTOSIS IN OTHER CONDITIONS A small number of acanthocytes appear in malnutrition resulting from diverse causes, including anorexia nervosa and cystic fibrosis. The red cell shape normalizes after restoration of adequate nutritional status.[medtextfree.wordpress.com]
  • She has published over 100 peer-reviewed publications in the field of haemostasis, is an international expert on platelet testing and aspirin resistance, and has served on review panels from the National Institutes of Health (NIH), College of American Pathologists[books.google.com]
  • Although no major oxydative stress has been reported in patients with overhydrated hereditary stomatocytosis, we found decreased amounts of oxydized glutathione, creatine and ergothioneine, suggesting transporter abnormalities and/or uncharacterized oxydative[ncbi.nlm.nih.gov]
  • This strongly suggests that these alterations are related to the young age of RBCs in these 2 hemolytic anemias.[haematologica.org]
  • […] ascorbate metabolisms (accumulation of ascorbate metabolism intermediates such as diketogulonic acid and decreased levels of both glutathione and glutathione disulfide), in markers for membrane lipids turnover such as carnitine, in some amino acids (suggesting[labex-grex.com]
  • These results suggest that formation of the hairpin loop is inefficient and that the conserved proline residue is indispensable for formation of the hairpin loop.[biochemj.org]


  • . § Hepatomegaly and gallstones are less frequent § Anaemia, cirrhosis § Secondary siderosis § Bi and multinucleated erythroblasts (usually 15-30%). § Mild to moderate Hb level, normal to mild elevated MCV § Low reticulocyte count § SDS-PAGE shows a more[ihaematology.com]
Mycobacterium Avium Complex
  • avium complex * Dissociative hysteria * Distal arthrogryposis Moore Weaver type * Distal myopathy * Distal myopathy Markesbery-Griggs type * Distal myopathy with vocal cord weakness * Distal myopathy, Nonaka type * Distal primary acidosis, familial *[medicalgeek.com]


  • Treatment - Overhydrated hereditary stomatocytosis Blood transfusion Resources - Overhydrated hereditary stomatocytosis Not supplied.[checkorphan.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Treatment There is no specific treatment for Hereditary Stomatocytosis, but some patients who have the disorder take folic acids, a water-soluble vitamin, because most of these cells use this vitamin.[hereditarystomatocytosiskw.weebly.com]
  • […] and Prognosis of PK deficiency -supportive treatment -RBC txn as necessary -splenectomy[quizlet.com]
  • The treatment for OHSt may include blood transfusions. A person with OHSt will be treated for hemolytic anemia and iron overload. If you or a family member has been diagnosed with OHSt, talk to your doctor about the most current treatment options.[diseaseinfosearch.org]


  • Prognosis - Overhydrated hereditary stomatocytosis Not supplied. Treatment - Overhydrated hereditary stomatocytosis Blood transfusion Resources - Overhydrated hereditary stomatocytosis Not supplied.[checkorphan.org]
  • Prognosis With correct management of the complications, the prognosis is good. Last updated: 10/16/2008[rarediseases.info.nih.gov]
  • Splenectomy is contraindicated in OHSt patients as it may induce venous thromboembolic complications.PrognosisWith correct management of the complications, the prognosis is good.Visit the Orphanet disease page for more resources.[malacards.org]
  • WBC RBCs in which the margin appears indented, purportedly due to splenic removal of a Heinz body Treatment and Prognosis of G6PD deficiency -preventing the common manifestations of hemolytic anemia and neonatal jaundice -avoidance of fava bean consumption[quizlet.com]
  • Prognosis Some clinical problems in Hereditary Stomatocytosis are mild enough to let the patient live a normal life. Although Gallstones can be a problem, that can be easily fixed with a surgery.[hereditarystomatocytosiskw.weebly.com]


  • Etiology In the majority of cases, OHSt is caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.[rarediseases.info.nih.gov]
  • The etiology of these disorders of cation permeability is unknown.[medtextfree.wordpress.com]


  • Asian ovalocytosis Synonym(s): (no synonyms) Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology OHSt is very rare with only seven cases described in the literature so far. Clinical description Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions.[rarediseases.info.nih.gov]
  • Relevant External Links for RHAG Genetic Association Database (GAD) RHAG Human Genome Epidemiology (HuGE) Navigator RHAG Atlas of Genetics and Cytogenetics in Oncology and Haematology: RHAG No data available for Genatlas for RHAG Gene The monovalent cation[genecards.org]
  • The molecular defects that transform AE1 into a cation channel are currently under investigation. [10] Epidemiology Frequency InternationalThese hereditary syndromes are extremely rare, and accurate data concerning their prevalence are lacking.[thehealthscience.com]
  • Hereditary spherocytosis Epidemiology § 1:5000 births (1:2000 if subclinical forms included) § Northern Europeans / Americans principally § Also Algeria, Tunisia, Egypt, Japan, N India, Brazil § Rare in black population Pathology § 7 Important proteins[ihaematology.com]
Sex distribution
Age distribution


  • These results pinpoint major metabolic defects of overhydrated hereditary stomatocytosis erythrocytes and emphasize the relevance of red blood cell metabolomics for a better understanding of the pathophysiological bases of hemolytic anemia associated[ncbi.nlm.nih.gov]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.de]
  • Moreover, it appears reasonable to assume that novel, unidentified ion homeostasis disturbances may significantly contribute to anaemia pathophysiology and may constitute an important group of undiagnosed cases of RA.[rare-anaemia.eu]
  • Keywords cells metabolism pathophysiology physiology tissue Editors and affiliations Thomas E. Andreoli 1 Joseph F. Hoffman 2 Darrell D. Fanestil 3 Stanley G. Schultz 4 1.[link.springer.com]


  • Prevention - Overhydrated hereditary stomatocytosis Not supplied. Diagnosis - Overhydrated hereditary stomatocytosis Not supplied. Prognosis - Overhydrated hereditary stomatocytosis Not supplied.[checkorphan.org]
  • B-spectrin -prevents the membrane from fragmenting in response to mechanical stress Hereditary Spherocytosis (HS) -a heterogenous group of hemolytic anemias caused by defects in proteins that disrupt the vertical interactions between transmembrane proteins[quizlet.com]
  • Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: Working party of the British Committee for Standards in Haematology Clinical Haematology Task force. BMJ 1996 ; 312 : 430 –4.[adc.bmj.com]
  • Peters LL, Shivdasani RA, Liu SC, Hanspal M, John KM, Gonzalez JM, Brugnara C, Gwynn B, Mohandas N, Alper SL, Orkin SH, Lux SE: Anion exchanger 1 (band 3) is required to prevent erythrocyte surface loss but not to form the membrane skeleton.[karger.com]

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