Family history: father and 2 uncles polyglobulin/polycythaemia**, mother healthy, 1 brother and 3 sisters allegedly health.

Molecular biology:

JAK-2 V617F mutation, mutation in codon W151 of MPL gene, mutation in exon 9 region of CALR gene - all negative

bcr/abl (major, minor, micro) – negative

mutation in the gene for G-6-PD (Xq28) - positive

EpoR (Erythropoietin receptor) – negative – we recommend performing examination of the athlete by NGS (next-generation sequencing) panel for congenital erythrocytosis which also covers other genes associated with this disease

Bone marrow trepanobiopsy from the hip bone flap 15.2.2024:

Morphological examination of marrow smear from aspirate: hypocellular smear, multiplied lymphoid population (39,5%)

Histological examination: hypocellular trilinear haematopoiesis with reactive changes Immunophenotyping (flow cytometry): no evidence of haematological malignancy

Cytogenetic examination: normal karyotype (46 XY)

Conclusion:

Hypocellular hematopoiesis with a multiplied lymphoid population indicates an incipient hematopoietic disorder with a number of possible etiologies in terms of NHL (Non-Hodgkin lymphoma) or hypocellular MDS (Myelodysplastic syndrome). On the other hand, low serum erythropoietin levels* are indicative of increased endogenous erythropoiesis activity and preclude external administration of growth factors such as erythropoietin.

The results of the examination show, among other things, that the observed non-standard fluctuations in hemoglobin values in the so-called biological passport of the patient in the years 2020 - 2022 are likely caused by a primary disorder of hematopoiesis, i.e. a primary haematological disease and not by external interventions. Influence of secondary factors such as alcohol abuse of the patient to the fluctuations of the haematological values of the patient cannot be ruled out.

*3.2 UI/l (normal 9.5-25.0) – 14.02.2024

**father and 2 uncles polyglobulin/polycythaemia

02 June 2023

Boniface Tanui (uncle) - HGB: 20.0 g/dL — RBC: 6.95 10^6/uL

28 July 2023

Gilbert Kiptoo (father) - HGB: 18.0 g/dL — RBC: 6.09 10^6/uL

Silas Komen (uncle) - HGB: 17.8 g/dL — RBC: 5.97 10^6/uL

30 September 2023

Gilbert Kiptoo (father) - HGB: 18.1 g/dL — RBC: 6.23 10x12/L

Boniface Tanui (uncle) - HGB: 19.3 g/dL — RBC: 6.72 10x12/L

Silas Komen (uncle) - HGB: 17.3 g/dL — RBC: 5.81 10x12/L

27 January 2024

Gilbert Kiptoo (father) - HGB: 19.1 g/dL — RBC: 6.58 10x12/L

Boniface Tanui (uncle) - HGB: 18.3 g/dL — RBC: 6.38 10x12/L

Silas Komen (uncle) - HGB: 15.9 g/dL — RBC: 5.46 10x12/L

Recommendations:

Hematologically, currently no curative measures, but dispensation and regular haematological follow-ups are advisable, at least after 6 months ("Watch and Wait"). Furthermore, any major secondary factors (such as the excessive alcohol consumption of the patient, and/or significant fluctuation of the patient’s athletic training loads) shall continue to be monitored. The examinations recommended above (such as NGS panel for congenital erythrocytosis) shall be performed.

At the next follow-up, in addition to checking the blood count, erythropoietin values and biochemical examination, beta-2 microglobulin and ELFO proteins with immunofixation.