Table 3.
Distribution of HFE-variants in various FAB categories and comparison to controls
| FAB subtype | HFE-variant, subjects (n) in subgroup (%) | ||||
|---|---|---|---|---|---|
|
| |||||
| C282Y | H63D | S65C | Heterozygous* | all variants | |
| RA | 3/53 (5.7%) | 17/53 (32.1%) | 1/53 (1.9%) | 1/53 (1.9%) | 22/53 (41.5%) |
| RARS | 3/39 (7.7%) | 13/39 (33.3%)** | 1/39 (2.6%) | 0/39 (0%) | 17/39 (43.6%) |
| RAEB | 2/46 (4.3%) | 12/46 (26.1%) | 1/46 (2.2%) | 1/46 (2.2%) | 16/46 (34.8%) |
| RAEB-T | 0/17 (0%) | 4/17 (23.5%) | 0/17 (0%) | 1/17 (5.9%) | 05/17 (29.4%) |
| CMML | 0/12 (0%) | 4/12 (33.3%) | 0/12 (0%) | 1/12 (8.3%) | 05/12 (41.7%) |
| All MDS patients | 8/167 (4.8%) | 50/167 (29.9%) | 3/167 (1.8%) | 4/167 (2.4%) | 65/167 (38.9%) |
| Austrian healthy controls | 42/494 (8.5%)*** | 116/494 (23.5%)**** | n.d. | 6/494 (1.2%) | 164/494 (33.2%) |
*
Heterozygous for HFE-variants C282Y and H63D.
**
1/39 (2.8%) homozygous.
***
1/494 (0.2%) homozygous.
****
7/494 (1.4%) homozygous.
Abbreviations: FAB, French-American-British; RA, refractory anemia; RARS, RA with ring sideroblasts; RAEB, RA with excess of blasts; RAEB-T, RAEB in transformation; CMML, Chronic Myelomonocytic Leukemia; n.d., not detectable.