Table 2. Detailed hematological findings in AMeDS individuals.
NA, not analyzed. WBC, white blood cells; Neut, neutrophils; Mon, monocytes; Hb, hemoglobin; MCV, mean corpuscular volume; Ret, reticulocytes; Plt, platelets; HbF, fetal hemoglobin; PB, peripheral blood; BM, bone marrow; RCMD, refractory cytopenia with multilineage dysplasia; RAEB-1, refractory anemia with excess blasts-1.
|
Individual
ID |
WBC
(×109/liter) |
Neut
(×109/liter) |
Mon
(×109/liter) |
Hb
(g/dl) |
MCV
(fl) |
Ret
(‰) |
Plt
(×109/liter) |
HbF
(%) |
PB blast (%) | BM blast (%) |
Morphological
diagnosis |
Karyotype |
| N1037* | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| N1254* | 1.4 | 0.4 | 0.4 | 9.3 | NA | NA | 47 | NA | NA | NA | NA | 45,XX,-7[8/10] 46,XX,der(5;17) (p10;q10),+8[4/20] |
| N1267 | 2.9 | 0.5 | 0.9 | 9.7 | 113 | 24 | 61 | 37 | 0 | 3 | RCMD (MDS-MLD) |
45,XX,+1,der(1;21) (q10;q10),-7[12/20] 46,idem,+7,add(18) (p11.2)[8/20] |
| N1269† | 9.8 | 3.9 | 1.3 | 7.7 | 75 | 10.9 | 56 | 4 | 0 | 3 | RAEB-1 (MDS-EB-1) |
45,idem,add(7) (p11.2),-8,add(19)(p13) [14/20] 46,XX,ins(1;?)(q12;?) [2/20] |
| N1270† | 3.4 | 1 | 0.9 | 7.4 | 101 | 36 | 17 | NA | 0 | 0 | RCMD (MDS-MLD) |
46,XY,add(7)(p15)[1/20] |
| N1275 | 1.9 | 0.1 | 0.04 | 10.7 | 98 | 5 | 24 | NA | 0 | 1 | RAEB-1 (MSD-EB-1) |
46,XX,+1,der(1;22) (q10;q10)[2/20] 47,idem,del(7) (q?),add(17) (p11.2),+mar1[9/20] 47,idem,add(17),del(20) (q1?),+mar1[5/20] |
| N1329 | 7.5 | 4.8 | 0.6 | 8.3 | 86.3 | NA | 37 | NA | 4 | 5 | RAEB-1 (MSD-EB-1) |
46,XY,+1,der(1;15) (q10;q10),add(17)(p11.2) 46,idem,add(17) |
*Affected siblings in Family4.
†Affected siblings in Family6.