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Hemoglobinopathies in Sport: Thalassemia, Sickle Cell Trait, Sports Medicine

Bernadette Pendergraph, MD and Evan S. Bass, MD, FAAFP, CAQSM Reviewed 04/2019
 


BASICS

DESCRIPTION

Thalassemia and sickle cell trait are genetic disorders of hemoglobin production. Thalassemias are a mixed collection of quantitative abnormal production, leading to either absent or...

DIAGNOSIS

Prehospital: 
  • Thalassemia minor: usually asymptomatic

  • Sickle cell trait: usually asymptomatic; may present with cramping or sudden collapse, usually within the first 30 min of intense practice...

TREATMENT

  • No treatment for asymptomatic sickle cell trait; focus is on prevention of exertional rhabdomyolysis and exertional collapse.

  • Collapse in sickle cell athlete:

    • Occurs from sickling of RBCs in e...

ONGOING CARE

PATIENT EDUCATION

REFERENCES

1
Naik RP, Haywood C. Sickle cell trait diagnosis: clinical and social implications. Hematology Am Soc Hematol Educ Program.  2015;2015:160–167.
2
Fibach E, Rachmilewitz EA. Pathophysiolo...

ADDITIONAL READING

Quattrone RD, Eichner ER, Beutler A, et al. Exercise collapse associated with sickle cell trait (ECAST): case report and literature review. Curr Sports Med Rep.  2015;14(2):110...

CLINICAL PEARLS

  • Use preventive strategies to minimize the risk of an event in an athlete known to have sickle cell trait.

  • Recognize thalassemia as a cause of microcytic anemia, and avoid iron supplemen...

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