Table 1.

Clinical and molecular characteristics of 8 patients with PS in the DBA cohort

Patient	mtDNA Δ size (bp)	Knew Dx?	CS therapy: duration/outcome	Other therapy	HSCT	Reached transfusion independence?	MCV (fL)	Erythroid hypoplasia?	RS?	Vacuoles?	Outcome (age)
1	2309	No	Yes: 8 wk/CMV hepatitis	Epo: no response	Yes	No	119	Yes	No	Yes	Deceased (29 m.o.)
2	4403	No	Yes: 3 y/deemed responsive	N.a.	No	Yes	N.a.	N.a.	N.a.	N.a.	Alive (3 y.o.)
3	4419	Yes	Yes: 4 mo/adrenal insufficiency	—	No	Yes	126	Yes	No	Yes	Alive (7 y.o.)
4	4623	No	Yes: 8 wk/no response	—	Yes	No	136	Yes	Yes	Yes	Deceased (25 m.o.)
5	4977	Yes	N.a.	N.a.	No	Yes	N.a.	N.a.	N.a.	N.a.	Alive (9 y.o.)
6	4977	No	No*	—	No	No	110	Yes	No	Yes	Alive (1 y.o.)
7	5149	No	Yes: 6 mo/no response	GCSF: ANC improved	No	No	97	Yes	No	Yes	Deceased (19 m.o.)
8	6956	No	No	GCSF: ANC improved	No	Yes	105	Yes	Yes	Yes	Alive (6 y.o.)

ANC, absolute neutrophil count; CMV, cytomegalovirus; Δ, deletion; Dx, diagnosis; Epo, erythropoietin; GCSF, granulocyte colony stimulating factor; HSCT, hematopoietic stem cell transplantation; MCV, mean corpuscular volume; m.o., months old; N.a., information not available; RS, ringed sideroblasts; y.o., years old.

^*CS trial planned, but PS diagnosis made prior to intervention.