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

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

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 - - - - - - -
  1. 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
  2. (1) normal hemoglobin values, decreased red blood cell counts; (2) normal red blood cell counts, decreased hemoglobin