14 April 2026
: Case report
Hemoglobin San Diego: A Case Report and Review of the Literature
Challenging differential diagnosis, Rare disease
Matthew L. Repp ABEF 1*, Brandon McMahon ABEF 1,2DOI: 10.12659/AJCR.951364
Am J Case Rep 2026; 27:e951364
Table 1 Laboratory test results in the evaluation of primary and secondary causes of erythrocytosis.
| Test | Result | Reference range | |
|---|---|---|---|
| CBC | Hemoglobin (g/dL) | 18.7 | 14.3–18.1 |
| Hematocrit (%) | 53.9 | 39.2–50.2 | |
| Red blood cell count (10/L) | 5.81 | 4.76–6.09 | |
| Mean corpuscular volume (fL) | 92.8 | 80.0–100.0 | |
| White blood cell count (10/L) | 5.6 | 4.0–11.1 | |
| Platelet count (10/L) | 96 | 150–400 | |
| Erythrocytosis evaluation | JAK2 V617F mutation analysis (PCR) | Negative | Negative |
| JAK2 exon 12 mutation analysis (PCR) | Negative | Negative | |
| Erythropoietin (mU/mL) | 22 | 4–27 | |
| Testosterone (ng/dL) | 490.24 | 123.06–813.86 | |
| Hemoglobin stability test | Normal | Normal | |
| Genetic testing | Gene: HBB; legacy nomenclature: β109 GTG>ATG (Val>Met), heterozygous | Normal | |
| CBC – complete blood count; HBB – hemoglobin subunit beta gene; JAK2 – Janus kinase 2; PCR – polymerase chain reaction. | |||






