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Hereditary Elliptocytosis 2

HE2


Presentation

  • Moderate jaundice and symptoms of anemia are present in severe cases. Splenomegaly is almost invariable but only rarely causes abdominal discomfort. Hepatomegaly may be present.[msdmanuals.com]
  • Heinz bodies were not seen; isopropyl test was negative; heat stability was 0.5%; serum bilirubin level was 1 mg.%; urobilinogen was present but bile was absent. Bone marrow presented hypoplastic-normoblastic picture.[jpgmonline.com]
  • Snap Shot A 17-year-old Norweigan woman presents with RUQ pain. Ultrasound reveals a calculi present in the gallbladder. Physical exam shows mild splenomegaly. Her labs show a mild normocytic anemia with an elevated reticulocyte count.[medbullets.com]
  • Abstract Three cases of hereditary elliptocytosis in siblings are presented with hemolysis and hyperbilirubinemia in the newborn period requiring exchange transfusion.[pediatrics.aappublications.org]
  • Epidemiology The reported incidence varies from 1 in 2,000 to 1 in 10,000. [ 3 ] Approximately 75% of cases display an autosomal dominant pattern of inheritance; the rest are recessive forms and de novo mutations. [ 4 ] Presentation Patients may present[patient.info]
Physician
  • […] coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician[books.google.com]
  • The physician suspects some form of anemia and orders a complete blood panel, which is remarkable for hemoglobin 11.7 g/dl, MCV 79 fL, MCHC 38% (normal 31.1-34%), and reticulocyte index 3.6%.[medbullets.com]
  • Anemia of chronic disease, the most common normocytic anemia, is found in 6 percent of adult patients hospitalized by family physicians.[aafp.org]
  • Many of our team members, both physicians and medical staff, are leaders in the community and serve on various medical committees and boards.[texasperinatalgroup.com]
  • Hereditary elliptocytosis and hereditary pyropoikilocytosis What every physician needs to know about hereditary elliptocytosis and hereditary pyropoikilocytosis: Hereditary elliptocytosis (HE) is characterized by the presence of elliptical or oval erythrocytes[cancertherapyadvisor.com]
Rigor
  • Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine.[books.google.com]
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Pathologist
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
Stroke
  • Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children.[books.google.com]

Workup

Heinz Bodies
  • body anemia Hb-C disease Hb-D disease Hb-E disease Hemoglobinopathy NOS Unstable hemoglobin hemolytic disease Type 1 Excludes familial polycythemia ( D75.0 ) Hb-M disease ( D74.0 ) hemoglobin E-beta thalassemia ( D56.5 ) hereditary persistence of fetal[icd10data.com]
  • […] hemolytic icterus Minkowski-Chauffard syndrome D58.1 Hereditary elliptocytosis Inclusion term(s): Elliptocytosis (congenital) Ovalocytosis (congenital) (hereditary) D58.2 Other hemoglobinopathies Inclusion term(s): Abnormal hemoglobin NOS Congenital Heinz[icd10coded.com]
  • Heinz body anaemia. Zinc toxicity. Severe hypophosphataemia. Hypersplenism. ABO incompatibility (neonates).[patient.info]
  • Heinz bodies were not seen; isopropyl test was negative; heat stability was 0.5%; serum bilirubin level was 1 mg.%; urobilinogen was present but bile was absent. Bone marrow presented hypoplastic-normoblastic picture.[jpgmonline.com]
  • Heinz bodies induce clustering of band 3, glycophorin, and ankyrin in sickle cell erythrocytes. J. Clin. Invest. 78, 1155–1160. doi: 10.1172/JCI112696 Pubmed Abstract Pubmed Full Text CrossRef Full Text Werre, J. M., Willekens, F. L., Bosch, F.[frontiersin.org]
Erythrocytosis
  • […] non-draft ICD-10-CM) 2017 (effective 10/1/2016) : No change 2018 (effective 10/1/2017) : No change 2019 (effective 10/1/2018) : No change Code annotations containing back-references to D58.1 : Type 1 Excludes: D75.0 ICD-10-CM Diagnosis Code D75.0 Familial erythrocytosis[icd10data.com]

Treatment

  • New, improved therapeutic approaches to treatment of children with venous thromboembolic disease have recently been introduced; affected patients often require close monitoring in their communities through the general pediatrician whose practice will[books.google.com]
  • […] elliptocytosis require no treatment Folate helps to reduce the extent of hemolysis in those with significant hemolysis due to hereditary elliptocytosis.[slideshare.net]
  • Which treatment must I follow if I have the disease? Most cases of hereditary elliptocytosis are asymptomatic and do not require treatment.[enerca.org]
  • Splenectomy, after appropriate vaccination, is the only specific treatment for hereditary spherocytosis or hereditary elliptocytosis but is rarely needed.[msdmanuals.com]

Prognosis

  • Prognosis Those with hereditary elliptocytosis have a good prognosis, only those with very severe disease have a shortened life expectancy.[slideshare.net]
  • What should you tell the patient and the family about prognosis? HE is an asymptomatic disease in most cases. Prognosis is excellent, as most patients do not develop any disease-related complications.[cancertherapyadvisor.com]
  • Prognosis [ edit ] Those with hereditary elliptocytosis have a good prognosis, only those with very severe disease have a shortened life expectancy.[en.wikipedia.org]
  • Prognosis 3-5% of patients have severe disease that requires regular blood transfusions. [ 1 ] Prevention Genetic testing and family tracing are available. [ 15 ] Relatives who are carriers of the gene may show a persistent reticulocytosis.[patient.info]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • The prevalence of anemia increases with age and is 44.4 percent in men 85 years and older. 5 Although the elderly are more prone to develop anemia, older age is not of itself a cause of the condition. 6 Etiology Normocytic anemias may be thought of as[aafp.org]

Epidemiology

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.com]
  • Relevant External Links for SPTA1 Genetic Association Database (GAD) SPTA1 Human Genome Epidemiology (HuGE) Navigator SPTA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPTA1 No data available for Genatlas for SPTA1 Gene Solution structural[genecards.org]
  • Epidemiology The reported incidence varies from 1 in 2,000 to 1 in 10,000. [ 3 ] Approximately 75% of cases display an autosomal dominant pattern of inheritance; the rest are recessive forms and de novo mutations. [ 4 ] Presentation Patients may present[patient.info]
  • 8790144 ) Pranke P.H....Saad S.T. 1996 44 Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921 ) Gallagher P.G....Forget B.G. 1996 45 Epidemiological[malacards.org]
  • 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

Pathophysiology

  • There are major introductory sections on the scientific basis of disease; and in the system-based clinical sections genetic predisposition, pathophysiology, pathogenesis, molecular mechanisms, and cell biology are covered in depth for all significant[books.google.com]
  • Spherocytic elliptocytosis (hereditary hemolytic ovalocytosis) - the individual is European descent and elliptocytes and spherocytes are simultaneously present in Pathophysiology 2. ‫[slideshare.net]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The functional red cell membrane is composed of a cholesterol and phospholipid bilayer anchored by integral proteins to an elastic[mayomedicallaboratories.com]
  • Several physiological and pathophysiological functions of RBC-derived microvesicles have been described.[frontiersin.org]
  • N/A Pathophysiology The principal defect in HE and HPP erythrocytes is mechanical weakness of the erythrocyte membrane skeleton leading to increased membrane fragility.[cancertherapyadvisor.com]

Prevention

  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Vaccination: Getting routine and recommended vaccinations are also important to prevent complications from infections. Infections can trigger the destruction of red blood cells in people with HS.[healthline.com]
  • WAS THERE A WAY TO PREVENT IT? This genetic condition is not preventable WHAT ELSE ARE WE WORRIED ABOUT? N/A OTHER HY FACTS? N/A Page Updated: 01.06.2016[stepwards.com]

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