Abnormal Hematologic Screening in an Elite Athlete

Abstract

HISTORY: The patient is a 21-year-old male, elite level athlete who competes in a sprinting sport. He has no medical concerns other than some low back pain (common in his sport). Routine laboratory testing had documented elevated hemoglobin and hematocrit levels since he was first tested about 4 years previously. He was in the process of obtaining a Blood Passport from his athletic governing body which grants permission to compete based upon documentation of elevated hematocrit levels from adolescence to present time. His latest screening also demonstrated an elevated total serum iron and iron saturation for the first time. He has a family history of some relatives with elevated blood counts who were thought to be otherwise healthy. PHYSICAL EXAMINATION: Routine yearly physical examinations had previously revealed no abnormalities. Laboratory screening examinations were performed several times a year to monitor blood levels consisting of Complete Blood Count (CBC), Ferritin, Serum Iron, and Total Iron Binding Capacity. The following values were obtained during the above mentioned screening exam (abnormal levels are in bold): RBC - 5.96 (n 4.5–5.9), Hgb - 19.3 (n 13.5–17.5), Hct -55.8 (n 41.0–53.0), Ferritin- 211 (n 20–300), Total Serum Iron - 200 (n 49–181), Total Iron Binding Capacity - 389 (n 250–450), Iron Percent Saturation - 51 (n 20–50). DIFFERENTIAL DIAGNOSIS: Constitutionally high hemoglobin Polycythemia Hemochromatosis Altitude induced hematopoesis Erythropoetin (EPO) usage TEST AND RESULTS: Given a change in the the previously normal iron parameters, coupled with an elevated Hgb and Hct, a fasting serum transferrin saturation was ordered and found to be 45%. Genetic testing for hemochromatosis was obtained via Polymerase Chain Reaction (PCR), which showed: C282Y Hemochromatosis Mutation: Heterozygous H63D Hemochromatosis Mutation: Heterozygous S65C Hemochromatosis Mutation: Negative Final/Working diagnosis: Hereditary Hemochromatosis TREATMENT AND OUTCOMES: The diagnosis of hemochromatosis in an elite athlete in an Olympic year played an important part in this athlete's management process. Further testing, including liver biopsy to determine the extent of end organ iron deposition, was deemed safe to delay until after Olympic competition. No phlebotomizing was started. Most importantly, notification and further evaluation of several of the athlete's family members was initiated, including a grandmother who additional history revealed had both diabetes and a “dark complexion.” This is a rare event when “routine blood screening” has revealed significant abnormalities, with implications for both the athlete and his family.