Is the Coexistence of Hereditary Elliptocytosis with Osler-Weber-Rendu Syndrome Coincidental?

Hereditary haemorrhagic telangiectasia (HHT) and hereditary elliptocytosis (HE) are genetic diseases that may cause anaemia and show hereditary inheritance. Several mutations have been defined which may cause the occurrence of both diseases. However, there is no study that shows if there is or is not a common mutation for these two diseases. In this article, a case in which recurrent spontaneous epistaxis, mucocutaneous telangiectasia and elliptocytosis in the peripheral smear were determined during an evaluation for anaemia. Some family members of this case were found to be positive for elliptocytosis and haemorrhagic telangiectasia. No similar reports have been published in the literature.