Background Haemoglobinopathy are the most common genetically inherited disease in many parts of the world. Both health and athletic performance may be affected in athletes training at high intensity and in extreme conditions.

Objective This retrospective study evaluates the prevalence of haemoglobinopathy in sportmen of Qatar.

Design and setting 712 male athletes (age 14–36 years) of all levels were medically screened in our sports hospital during the period of January 2008 to April 2009. Athletes with a low Mean Cell Volume (Value) and low Mean Cell Haemoglobin (Hb value) were investigated for haemoglobinopathy with an electrophoresis screen and DNA analysis in the event of a normal electrophoresis, and unexplained low MCV/MCH.

Intervention 112 athletes (15.7%) met the criteria for investigation. 93 (83.04%) of these underwent electrophoresis and 76 (81.7%) had a normal result.

Results Abnormal results included nine â-thalassemia minor, four sickle cell trait, one Hb D Los Angeles and three subtypes of HbX. 49 (64.7%) of the 76 normal Hb electrophoresis were further tested with DNA analysis. 45 DNA results were subsequently abnormal for three subforms of alpha thalassemia minor.

Main outcome measurements Overall, no athletes were found to have thalassaemia major but 8.85% of total number of athletes in this cohort were positive for thalassaemia minor. Nearly 2/3 of the positive results were in Qatari athletes, with the remainder being from other Gulf, Asian and African countries.

Conclusion Thus we conclude that there is a high prevalence of haemoglobinopathies in Qatar sportsmen. The use of electrophoresis as a screening tool is challenged by the high rate of false negative observed in this study. Screening, education and counselling is needed to prevent possible health hazards and to optimise performance in this group of athletes often performing in extreme environmental conditions.