Table 1.

Features of DC patients^*

Family Number	Case Number	Age on exam, yrs	Sex	WBC** (K/μL)	ANC** (K/μL)	Hb** (g/dL)	MCV**	Platelet Count (K/μL)	Inheritance Pattern	Mutant gene	Treatment
1	1	46	F	5.150	2.735	12.8	115	28	AD**	TERC**	Halotestin
1	2	15	M	4.440	2.202	14.7	101	99	AD	TERC
2	3	25	M	3.550	1.945	10.7	113	77	AD	TERT**
3	4	26	F	2.460	1.707	8.1	110	64	AD	unknown	Oxymetholone
3	5	25	M	3.460	1.817	14.6	96	148	AD	unknown
3	6	13	M	3.290	1.415	13.9	89	188	AD	unknown
3	7	29	M	4.340	2.209	15.1	96	142	AD	unknown
3	8	22	M	3.790	1.766	14.5	99	117	AD	unknown
3	9	21	M	3.130	1.681	12.1	109	24	AD	unknown
4	10	10	M	3.570	1.571	9.6	106	25	XLR**	DKC1**
5	11	22	M	2.740	1.403	10.0	118	24	XLR	DKC1
6	12	9	M	2.400	0.71	10.7	103	14	XLR	DKC1	G-CSF**, Aranesp, RBC** and platelet transfusions
6	13	3	M	2.160	0.616	9.5	98	16	XLR	DKC1
6	14	13	M	3.600	1.897	12.9	97	45	XLR	DKC1
7	15	15	F	2.180	0.392	7.9	114	17	AD	TERC
8	16	9	F	2.620	1.022	9.5	87	12	unknown	unknown	G-CSF, RBC and platelet transfusions
9	17	6	M	3.380	1.213	9.1	112	110	unknown	unknown	Oxymetholone, prednisone, RBC and platelet transfusions

^*Shaded values are outside the reference range.

^**WBC = white blood cells, ANC = absolute neutrophil count, Hb = hemoglobin, MCV = mean corpuscular volume, AD = autosomal dominant, TERC = gene encoding the RNA component of telomerase^{2, 4, 5}, TERT = gene encoding human telomerase reverse transcriptase³, XLR = X-linked recessive, DKC1 = gene encoding the dyskerin protein³, G-CSF = granulocyte colony stimulating factor, RBC = red blood cells