Minkowski-Chauffard disease

Minkowski-Chauffard disease is also known as hereditary spherocytosis (HS). It is the consequence of a genetic defect of the red blood cell membrane produced by mutations in the genes coding for membrane proteins. Red blood cells have a typical spherocytic shape (spherocytes). Chronic haemolysis occurs in variable intensities, episodes of transient acute aplastic or crisis are rare. In general, HS is associated with enlargement of the spleen (splenomegaly) and yellow skin (jaundice). In 80% of cases HS is inherited by autosomal dominant mode whereas the rest occurs sporadic or is transmitted by autosomal recessive trait.  Many cases are first dianosed in adolelecenrs or young adults.

Synonym: Hereditary spherocytosis