Hereditär sfärocytos feber

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Osmotic fragility is slightly decreased. It is caused by different mutations in the genes for α-spectrin, β-spectrin, ankyrin-1, band 3 or protein 4.2. Haematologica 93:1310-1317, 2008. Therefore, the diagnosis in individuals without a positive family history should generally not be based on one method, e.g., osmotic resistance only or EMA only or biochemical membrane diagnostics only.

The most effective symptomatic therapy is splenectomy. Laparoscopic splenectomy is preferred if performed by experienced surgeons. in the case of coagulated blood

  • high titre cold agglutinins

  • hereditary membrane disorders of erythrocytes as in hereditary spherocytosis and variants such as xerocytosis

  • hemoglobin CC abnormality

  • homozygous sickle cell disease (occasionally)

  • hemochromatosis patients with massive iron overload [15], also depending on genotype.

    • 5Diagnosis

    5.1Diagnostics for suspected hereditary spherocytosis

    The diagnostic steps in adults are shown in Tables 6 and 7 and as an algorithm in Figure 1.

    Parameter

    (mandatory)

    Specification

    Evaluation

    (as a diagnostic criterion)

    Family history

    • autosomal dominant or recessive

    Splenomegaly

    • Physical examination

    • Ultrasound

    Blood count automatically

    • Anemia

    • MCHC1 > 35 g/dl

    • Anisocytosis (RDW2 )

    Blood count microscopic

    increased hemolysis

    • Reticulocytes increased or normal

    • low percentage of immature reticulocytes

    • Indirect bilirubin increased

    • LDH5 increased

    • Haptoglobin not detectable

    • at least 2 parameters mandatory

    Coombs test

    1 MCHC - mean corpuscular hemoglobin concentration;
    2 RDW- size distribution of erythrocytes in automatic blood count;
    3 detectable only in perfect smears;
    4 microscopic picture may be uncharacteristic in adults; few or no spherocytes may be detectable in mild forms, while polychromasia and anisocytosis are almost always seen;
    5 LDH - lactate dehydrogenase;

    Parameter

    Specification

    Osmotic fragility

    Acidified Glycerol Lysis Time (AGLT)

    Flow cytometry

    Eosin-5-maleimide binding

    Ektacytometry

    • currently not available in Germany

    • available in Switzerland

    Membrane analysis

    SDS PAGE

    Gene analysis

    Sequencing of candidate genes: linkage analysis

    There is no single test that detects all forms of hereditary spherocytosis and reliably differentiates them from other forms of membrane-related hemolytic anemias [16, 17, 18, 19, 20, 21].

    hereditär sfärocytos feber

    Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. Dette gir personer med hereditær sfærocytose en lavgradig, kronisk hemolytisk anemi som kan gi lette anemisymptomer. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis.

    Sfærocytose er forekomst av kuleformede røde blodceller (sfærocytter) i blodet. Comput Med Imaging Graph. doi:10.1016/j.mayocp.2014.06.026 - Pubmed

  • 4. There is no causal therapy. 2. Klinik m.S. Genetic counseling is recommended in families with a history of HS.

    Treatment involves management of jaundice (phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy) and RBC transfusions in case of severe, symptomatic anemia.

    Kyle R, Steensma D, Shampo M. Oscar (Oskar) Minkowski: Discovery of the Pancreatic Origin of Diabetes. Normale røde blodceller er blekere på midten enn i ytterkantene når vi ser på dem i et mikroskop.