A Child With Hereditary Spherocytosis Associated With Von Willebrand’s Disease: A Case Report From Saudi Arabia

Von Willebrand disease (VWD) is an autosomal inherited hemostasis disorder caused by a deficiency or defect in the blood protein known as von Willebrand factor, which is necessary for platelets to adhere to damaged vessel walls. The main symptoms of the condition include spontaneous bleeding from mucosal membranes, excessive wound bleeding, and menorrhagia in girls. On the other hand, hereditary spherocytosis (HS) is a heterogeneous group of diseases that damage red blood cells, with clinical manifestations depending on the different membrane protein-encoding gene mutations, their different functional consequences, and the mechanism of inheritance. It is typically characterized by the presence of jaundice, anemia, and splenomegaly. Here, we report a novel pathogenic mutation in a child with HS that led to hemolytic anemia since the age of two years associated with recently discovered type 1 VWD, as we were unable to find any cases that have been previously reported to have HS associated with VWD. According to our analysis of the literature, there is no definitive link between the two hematological disorders.