Investigations
| Stage 1 . | Stage 2 . | |
|---|---|---|
| Erythrocytosis . | Thrombocytosis . | |
| Detailed history, including family history | Red cell mass | Serum TPO |
| Repeat confirmatory Full blood count | Imaging | Sequencing of THPO, MPL, and JAK2 genes |
| Serum EPO | Overnight oximetry | |
| JAK2, CALR, MPL mutation screen | P50 measurement | |
| Bone marrow aspirate and trephine | Hb electrophoresis | |
| With cytogenetics | Sequencing for mutations in genes in oxygen-sensing pathway | |
| CRP | NGS panel for hereditary erythrocytosis | |
| Iron studies | ||
| Stage 1 . | Stage 2 . | |
|---|---|---|
| Erythrocytosis . | Thrombocytosis . | |
| Detailed history, including family history | Red cell mass | Serum TPO |
| Repeat confirmatory Full blood count | Imaging | Sequencing of THPO, MPL, and JAK2 genes |
| Serum EPO | Overnight oximetry | |
| JAK2, CALR, MPL mutation screen | P50 measurement | |
| Bone marrow aspirate and trephine | Hb electrophoresis | |
| With cytogenetics | Sequencing for mutations in genes in oxygen-sensing pathway | |
| CRP | NGS panel for hereditary erythrocytosis | |
| Iron studies | ||
CRP, C-reactive protein; NGS, next-generation sequencing.