Inherited bone marrow failure syndromes

These syndromes are a group of diseases characterised by insufficient blood cell production (anaemia, neutropenia and thrombocytopenia), constitutional malformations and the risk of cancer.


They are usually diagnosed in childhood but there some cases diagnosed in adults. Specifically, these syndromes are:  Fanconi anaemia, dyskeratosis congenita or selectively severe congenital neutropenia, Diamond-Blackfan anaemia, Diamond-Shwachman syndrome, and amegakaryocytic thrombocytopenia.  

Síndromes de la fallada medul·lar congènita a Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 05.01.2023, 12:53
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