Microspherocytosis
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[MIM 182 900, 270 970, 612 653, 612 690, 616 649 ]
(Minkowski-Chauffard disease, spherocytosis)
Prevalence in Europe estimated at 1/2,000 to 1/5,000. Constitutional anomaly of the red bllod cells membranes proteins that produces an increased fragility.
Variable transmission mode:
- mutation of the ANK1 gene that codes for ankyrine (50% in USA): autosomal dominant or recessive transmission, or de novo mutation
- mutation of the EPB42 gene that codes for protein 4.2 (50% in Japan): autosomal recessive transmission
- mutation of the SPTB gene that codes for ß spectrin: autosomal dominant transmission or de novo mutation
- mutation of the SPTA1 gene, that codes α-spectrin: autosomal recessive transmission
- mutation of the SLC4A1 gene that codes the band 3 protein: autosomal dominant transmission
Clinical manifestations:
1) sudden crises of deglobulisation: in general in the course of a viral infection: sudden worsening of anemia and jaundice.
2) aplastic crises: following infection by parvovirus B19
3) as a consequence of chronic hemolysis, cholelithiasis in childhood.
Diagnosis: spherocytosis at microscopic examination of the red cells; high reticulocytosis, decrease in the resistance of red cells in a hypotonic solution.
Total or subtotal splenectomy is indicated in case of significant anemia and frequent transfusions.
Anesthetic implications:
check the hemoglobin and the bilirubin level; before splenectomy antipneumococcal vaccination; prophylactic antibiotics. Thromboprophylaxis (aspirin) in the days following splenectomy.
References :
Updated: February 2017