[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:

• neonatal period: in 65% of cases, persistent jaundice, anemia that can become severe and requires transfusions or erythropoietin
• later: often without previous specific neonatal symptoms: anemia, jaundice, and splenomegaly
• possible complications:

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 : 

• Bolton-Maggs PH. 
  Hereditary spherocytosis : new guidelines. 
  Arch Dis Child 2004 ; 89 : 809-12.
• Da Costa L, Galimand J, Fenneteau O, Mohandas N.
  Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
  Blood Reviews 2013; 27: 167-78

Updated: February 2017