Figure 1
Diagnosis distribution of 232 Bulgarian patients. Other diagnoses (seven individuals) include: four patients with myelodysplastic syndrome (MDS), one with thrombocytosis, one with multiple myeloma and one with osteopetrosis.
Figure 2
Restriction fragment length polymorphism analysis of the JAK2 gene. BsaXI endonuclease was used to specifically cut the PCR product on 2.0% agarose gel. Lane 1: 50 bp ladder; lane 3: sample from patient with two mutant alleles (homozygous by the mutant allele); lane 5: sample from patient with wild type alleles (homozygous by the wild type allele); lanes 2, 4 and 6: samples from patients with a mixed pattern of both mutant and wild type alleles.
Table 1
Characteristics of patients with myelofibrosis (MF) confirmed by bone marrow biopsy. Below are shown parameters for sex, age and the genotype status according to the JAK2 V617F mutation.
| # | Year | Sex-Age | Genotype Status V617F Mutation | Dx |
|---|---|---|---|---|
| 1 | 2015 | F-58 | NN | MF |
| 2 | 2105 | M-65 | MN | MF |
| 3 | 2016 | M-59 | MN | MF |
| 4 | 2016 | M-60 | NN | MF |
| 5 | 2016 | F-76 | MN | MF |
| 6 | 2016 | F-29 | MN | MF |
| 7 | 2017 | F-86 | NN | MF |
| 8 | 2017 | M-51 | NN | MF |
| 9 | 2017 | M-73 | MN | MF |
| 10 | 2017 | M-54 | MN | MF |
| 11 | 2017 | F-51 | NN | MF |
| 12 | 2017 | M-94 | MM | MF |
| 13 | 2017 | F-65 | MM | MF |
| 14 | 2018 | F-76 | MM | MF |
| 15 | 2018 | F-47 | NN | MF |
| 16 | 2018 | M-63 | MN | MF |
| 17 | 2018 | M-64 | NN | MF |
| 18 | 2018 | F-87 | NN | MF |
| 19 | 2018 | M-65 | MN | MF |
| 20 | 2018 | F-56 | MN | MF |
[i] Dx: diagnosis; MF: myeloftibosis; NN: individuals homozygous for the normal wild type allele; MN: heterozygous; MM: individuals homozygous for the mutated allele.