Table 3.

Characteristics of constitutional bone marrow failure syndromes that accompany hypoproliferative anemia

Disease	Genetics	Median age at diagnosis (range)*	Associated physical anomalies	Diagnostic tests (other than gene sequencing)
DBA	Ribosomal protein genes	3 months (0-64)	Abnormal thumbs, short stature	Elevated erythrocyte adenosine deaminase, elevated Hgb F expression
Fanconi anemia	Fanconi anemia genes (DNA repair and genomic stability)	6.5 (0-49)	Skin pigment changes or café-au-lait spots, short statrure, upper limb anomalites, microcephaly, renal malformations, hypogonadism, ear anomalities and deafness	Increased chromosomal breakage of peripheral blood cells after exposure to the DNA crosslinking agent (DEB, MMC)
Telomeropathy	Telomere repair complex or telomere protection complex (TERT, TERC, and others)	14 (0-75)	Oral leukoplakia, dystrophic nails, skin hypo/hyperpigmentation (lacey reticular rash), pulmonary fibrosis, cryptic cirrhosis, portal hypertension, premature graying of hair	Short telomere contents of peripheral blood leukocytes (flow-FISH, quantitative PCR)
GATA2 deficiency	Hematopoietic transcription factor	Insufficient data	Recurrent warts, disseminated non-tuberculous mycobacteria infection, lymphedema, panniculitis, pulmonary diffusion and ventilatory defects, pulmonary alveolar proteinosis	Flow cytometry: peripheral blood - disproportionately reduced monocytes, B cells and NK cells, bone marrow - reduced monocytes, B cells, NK cells, and absent hematogones compared to AA

^*Reference 8