Genotyping of the Val617Phe (1849G>T) JAK2 mutation in blood mononuclear cells
. | . | JAK2 genotype . | . | . | ||
|---|---|---|---|---|---|---|
. | No. of patients . | Tnull; wild type . | Tminor; mutant allele up to 50% . | Tmajor; mutant allele more than 50% . | ||
| Polycythemia vera, no. (%) | 60 | 13 (21.7) | 35 (58.3) | 12 (20) | ||
| Essential thrombocythemia, no. (%) | 61 | 30 (49.2) | 26 (42.6) | 5 (8.2) | ||
| Myelofibrosis with myeloid metaplasia, no. (%) | 8 | 2 (25) | 4 (50) | 2 (25) | ||
| Chronic myeloid leukemia, no. (%) | 8 | 8 (100) | 0 (0) | 0 (0) | ||
| Systemic mastocytosis, no. (%) | 1 | 1 (100) | 0 (0) | 0 (0) | ||
| Chronic myelomonocytic leukemia, no. (%) | 1 | 1 (100) | 0 (0) | 0 (0) | ||
| Healthy relatives with EEC, no. (%) | 37 | 35 (94.6) | 2 (5.4) | 0 (0) | ||
| Healthy relatives, no. (%) | 201 | 200 (99.5) | 1 (0.5) | 0 (0) | ||
. | . | JAK2 genotype . | . | . | ||
|---|---|---|---|---|---|---|
. | No. of patients . | Tnull; wild type . | Tminor; mutant allele up to 50% . | Tmajor; mutant allele more than 50% . | ||
| Polycythemia vera, no. (%) | 60 | 13 (21.7) | 35 (58.3) | 12 (20) | ||
| Essential thrombocythemia, no. (%) | 61 | 30 (49.2) | 26 (42.6) | 5 (8.2) | ||
| Myelofibrosis with myeloid metaplasia, no. (%) | 8 | 2 (25) | 4 (50) | 2 (25) | ||
| Chronic myeloid leukemia, no. (%) | 8 | 8 (100) | 0 (0) | 0 (0) | ||
| Systemic mastocytosis, no. (%) | 1 | 1 (100) | 0 (0) | 0 (0) | ||
| Chronic myelomonocytic leukemia, no. (%) | 1 | 1 (100) | 0 (0) | 0 (0) | ||
| Healthy relatives with EEC, no. (%) | 37 | 35 (94.6) | 2 (5.4) | 0 (0) | ||
| Healthy relatives, no. (%) | 201 | 200 (99.5) | 1 (0.5) | 0 (0) | ||