Clinical and hematological aspects in pediatric patients diagnosed with Fanconi anemia – a single-center experience

Abstract

Inherited bone marrow failure syndromes (IBMFS) are rare hematological disorders that characteristically associate physical abnormalities, ineffective hematopoiesis and pre­dis­position to cancer, accompanied by a range of congenital abnormalities. The most common are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA) and Schwachman-Diamond syndrome (SDS). Most pa­tients have specific clinical features, making them very im­por­tant for establishing the correct diagnosis.