TABLE 1.

Case series of hereditary anemias diagnosed by targeted next-generation sequencing.

Hereditary anemia subtypes	Families (n)	Patients (n)	Genes (n)	Diagnostic yield (%)‡	References
CDA; DBA; sideroblastic anemia; RBC enzymatic defects	57	57	33	38.6	Roy et al., 2016
RBC membrane defects; CDA; RBC enzymatic defects	10	10	40	100§	Del Orbe Barreto et al., 2016
RBC membrane defects; RBC enzymatic defects	15	15	28	86.7	Agarwal et al., 2016
RBC membrane defects	13	15	12	100§	Niss et al., 2016
RBC membrane defects; CDA; DBA; RBC enzymatic defects	62	74	71	64.9	Russo et al., 2018
RBC membrane defects; CDA; DBA; RBC enzymatic defects	21	21	76	61.9	Shefer Averbuch et al., 2018
BMFS; CDA; RBC enzymatic defects; hematological malignancies	21	21	76	81.0	Kedar et al., 2019
RBC membrane defects; RBC enzymatic defects; hereditary anemia modifiers	59	59	43	84.7	Choi et al., 2019
CDA; RBC membrane defects; RBC enzymatic defects	26	36	35	72.2	Svidnicki et al., 2020

^‡Ratio of number of diagnosed patients/numbers of tested patients. ^§These studies reported only the number of diagnosed patients. CDA, congenital dyserythropoietic anemia; DBA, Diamond-Blackfan anemia; RBC, red blood cell; BMFS, bone marrow failure syndrome.