Overview of the diagnostic assessment of polycythemia in patient 2
| Erythropoietin concentration . |
|---|
| Renal function assessment, including urine, blood, and ultrasound of urinary tract |
| Spirometry |
| Cardiac function assessment, including echocardiography and ECG |
| Ultrasound of abdominal and pelvic organs for tumor detection |
| Polysomnography |
| Blood gas analyses, including estimation of Hb oxygen affinity and HbCO levels |
| Sequence analyses of α-globin (HBA) genes, pyruvate kinase (PKLR), and bisphosphoglycerate mutase (BPGM) |
| Integration site analysis of the therapeutic gene |
| Mutational analysis of JAK2 and CALR |
| Erythropoietin concentration . |
|---|
| Renal function assessment, including urine, blood, and ultrasound of urinary tract |
| Spirometry |
| Cardiac function assessment, including echocardiography and ECG |
| Ultrasound of abdominal and pelvic organs for tumor detection |
| Polysomnography |
| Blood gas analyses, including estimation of Hb oxygen affinity and HbCO levels |
| Sequence analyses of α-globin (HBA) genes, pyruvate kinase (PKLR), and bisphosphoglycerate mutase (BPGM) |
| Integration site analysis of the therapeutic gene |
| Mutational analysis of JAK2 and CALR |
All of these investigations revealed normal results.
ECG, electrocardiogram; HbCO, carboxyhemoglobin.