Case report
Congenital microspherocytosis with mechanical jaundice complication combined with benign haemophilia A

Hereditary microspherocytosis (HS) is an autosomally dominant inherited disorder with prevalence of one per 5000 newborns. HS is the main cause of congenital haemolysis in children in northern Europe and the USA. The common protein defects are associated with spectrin a and b, ankyrin, protein 4.1 or 4.2, as well band 3 protein. The patient’s red cells become spheroidal, osmotically less resistant and selectively trapped in the spleen because of the defect of the red cell membrane. The classical clinical symptoms of this condition are anaemia, haemolytic jaundice and splenomegaly. Gall bladder disease is quite a common complication in HS, while in contrast gallstones in ductus choledochus are quite rare. Coincidence of mechanical and haemolytic anaemia may cause diagnostic problems and increased level of bilirubin and evacuation of gallstones from bile ducts in younger children may augment trouble. The authors report here the case of a four-year-old boy with severe microspherocytosis complicated by mechanical jaundice with benign haemophilia A.