Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis

Table 1 Physical, hematological and cytogenetic characterization of 34 Fanconi anemia (FA) patients at diagnosis

FA patients (DEB+)				Presence (+) or absence (−) of hematological abnormalities					Presence (+) or absence (−) of congenital abnormalities
Patient number	Gender	Age diag	brk/cel	Thromb	Neut	Anem	↑HbF	Macroc	Skin	Growth	Facies	Thumb	Urog	Heart
1	F	8	15.0	+	+	+	+	+	-	+	-	-	-	+
2	M	7	11.3	+	+	+	+	+	+	+	-	-	-	-
3	F	5	1.0	+	+	+	+	+	+	+	-	-	-	-
4	F	4	6.6	+	+	+	+	+	+	-	-	+	-	-
5	F	16	1.5	+	+	+	ND	+	-	+	+	+	-	-
6	M	10	7.0	+	+	+(1)	+	+	+	-	-	+	-	-
7	M	3	7.6	+	-	+(1)	ND	-	-	-	+	+	+	+
8	F	9	6.7	+	+	+(1)	ND	+	-	+	-	+	-	-
9	M	2	13.4	+	+	+	ND	+	-	+	-	+	-	-
10	F	6	7.2	+	+	+	ND	+	-	-	-	+	+	-
11	F	8	4.5	+	+	+	ND	+	-	+	+	-	-	-
12	M	1	3.1	+	-	+	+	+	-	+	+	-	-	-
13	F	3	4.1	+	+	+	ND	+	-	-	+	-	+	-
14	M	8	11.7	+	+	+	+	+	-	+	-	-	-	-
15	F	4	2.2	+	-	+(1)	+	+	-	-	+	-	-	-
16	F	6	2.1	+	+	+	ND	+	+	-	-	-	-	-
17	F	12	1.8	+	+	+	ND	-	+	-	-	-	+	-
18	M	12	1.7	+	+	+(1)	ND	+	+	-	-	-	-	-
19	F	18	9.1	+	+	+	ND	-	-	+	+	-	-	-
20	M	12	1.3	+	+	+	ND	-	-	+	-	-	+	-
21	M	3	3.1	+	-	-	+	-	-	-	-	-	+	+
22	M	25	1.1	-	+	-	ND	+	+	-	-	-	-	-
23	M	1	1.5	-	-	-	+	-	+	-	-	-	-	-
24	F	8	5.4	+	+	+(1)	+	+	+	-	-	-	-	-
25	M	29	9.7	+	+	+	+	+	-	-	-	-	-	-
26	F	21	12.0	+	+	+	+	+	-	-	-	-	-	-
27	F	12	8.6	+	+	+	+	+	-	-	-	-	-	-
28	M	7	4.4	+	+	+	+	-	-	-	-	-	-	-
29	F	17	6.6	+	-	+	ND	+	-	-	-	-	-	-
30*	M	1	7.5	-	+	+	+	-	-	-	+	-	-	-
31*	M	4	7.1	-	+	-	-	-	+	+	-	-	+	-
32*	F	34	7.1	+	+	+	ND	-	-	-	-	-	-	-
33*	F	10	7.1	-	-	-	ND	+	-	-	-	-	-	-
34*	M	0	5.0	-	+	+(2)	ND	-	-	-	-	-	-	-

FA Fanconi anemia, brk/cel number of DEB (diepoxybutane)-induced breaks per cell; reference values (min-max) for brk/cel in a DEB+ test: 0.96–17.0, ND not determined * referred for familial study, age diag age, in years, at the time of diagnosis, thromb thrombocytopenia, neut neutropenia, anem anemia, ↑ HbF increased fetal hemoglobin, macroc macrocytosis, skin abnormal skin pigmentation with café au lait spots, growth small stature, facies particular facies, small head and eyes, thumb thumb abnormalities, urog renal or gonadic abnormalities, heart cardiac abnormalities
(1) normal hemoglobin values, decreased red blood cell counts; (2) normal red blood cell counts, decreased hemoglobin

ISSN: 1750-1172