Table 4.
Distribution of HFE-variants in various WHO 2016 categories
| WHO 2016 subtype | HFE-variant, subjects (n) in subgroup (%) | ||||
|---|---|---|---|---|---|
|
| |||||
| C282Y | H63D | S65C | Heterozygous* | all variants | |
| MDS 5q- | 1/10 (10%) | 1/10 (10%) | 0/10 (0%) | 0/10 (0%) | 2/10 (20%) |
| MDS-EB1 | 2/29 (6.9%) | 10/29 (34.5%) | 0/29 (0%) | 0/29 (0%) | 12/29 (41.4%) |
| MDS-EB2 | 0/27 (0%) | 3/27 (11.1%) | 1/27 (3.7%) | 2/27 (7.4%) | 6/27 (22.2%) |
| MDS-SLD | 0/26 (0%) | 11/26 (42.3%)** | 0/26 (0%) | 0/26 (5.9%) | 11/26 (42.3%) |
| MDS-RS-SLD | 0/18 (0%) | 7/18 (38.9%) | 0/18 (0%) | 0/18 (0%) | 7/18 (38.9%) |
| MDS-MLD | 2/13 (15.4%) | 9/13 (69.2%) | 1/13 (7.7%) | 1/13 (7.7%) | 13/26 (50%) |
| MDS-RS-MLD | 3/12 (25%) | 2/12 (16.7%) | 1/12 (8.3%) | 0/12 (0%) | 6/12 (50%) |
| CMML1 | 0/10 (0%) | 4/10 (40%) | 0/10 (0%) | 0/10 (0%) | 4/10 (40%) |
| CMML2 | 0/2 (0%) | 0/2 (0%) | 0/2 (0%) | 1/2 (50%) | 1/2 (50%) |
| AML dys. | 0/7 (0%) | 3/7 (42.9%) | 0/7 (0%) | 0/7 (0%) | 3/7 (42.9%) |
| All MDS patients | 8/167 (4.8%) | 50/167 (29.9%) | 3/167 (1.8%) | 4/167 (2.4%) | 65/167 (38.9%) |
*
Heterozygous for HFE-variants C282Y and H63D.
**
1/26 (3.8%) homozygous.
Abbreviations: WHO, World Health Organization; MDS, Myelodysplatic Syndrome; MDS 5q-, MDS with isolated 5q-; MDS-EB1, MDS with excess of blasts-1; MDS-EB2, MDS with excess of blasts-2; MDS-SLD, MDS with single-lineage dysplasia; MDS-RS-SLD, MDS with ring sideroblasts (RS) and single-lineage dysplasia; MDS-MLD, MDS with multilineage dysplasia; MDS-RS-MLD, MDS with RS and multilineage dysplasia; CMML, Chronic Myelomonocytic Leukemia; AML dys., Acute Myeloid Leukemia with myelodysplasia-related changes.