Table 2

Genetics and screening of inherited bone marrow failure syndrome.

Syndrome	Genetics	Screening
Fanconi anemia	FANCA, C, G account for 95% of cases	Increased chromosome breakage
Dyskeratosis congenita	DKC1, RTEL1, TERT, TERC, TINF2	Short telomere lengths
Diamond-Blackfan anemia	RPS19, RPL11, RPS26, RPS10, RPL35A, RPS24, RPS17	Elevated erythrocyte adenosine deaminase
Schwachman-Diamond syndrome	SBDS, SRP54, ELF1	Low pancreatic isoamylase (age >3 yr) and low fecal elastase
Severe congenital neutropenia	ELA2 (33–60%), HAX1, G6PC3, GFI1, WAS, CSF3R
Congenital amegakaryocytic thrombocytopenia	MPL
GATA2 deficiency	GATA2
SAMD9/SAMD9L disorders	SAMD9/SAMD9L	Monosomy 7, del 7q and der(1;7)
MECOM-associated syndrome	MECOM	Suspected to have congenital amegakaryocytic thrombocytopenia, but without mutations in the MPL gene