Clinical Trial: Sickle Cell Trait in Football Players

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: Is Sickle Cell Trait as Benign as is Usually Assumed?

Brief Summary: This study will look at the five different types of sickle cell and their relation to self-reported ill health to determine whether or not one or two of the sickle cell haplotypes are correlated with worse health outcomes. Participants can do complete the study in under half an hour in the privacy of their own home.

Detailed Summary: Sickle cell anemia is a disease which results from the inheritance of two hemoglobin S (Hb S) genes. Sickle-cell anemia individuals are referred to as Hb SS patients, and are known to suffer from a variety of life-threatening symptoms. Paramount in the clinical complications of sickle cell patients is the "sickle-cell crisis". If a crisis is not stopped by prompt medical attention, it may result in death. It is becoming increasingly clear that some sickle cell anemic patients have more benign clinical profiles than do others. The genetic reason for such clinical differences has been well determined: although the mutation that changes the "normal" hemoglobin gene is the same in all patients, the genetic material outside of the gene influences how the gene is expressed. This genetic material is referred to as the beta-globin haplotype. Carriers of the sickle cell gene are referred to as Hb AS individuals. Hb AS carriers usually have a normal life free of the clinical problems associated with the disease suffered by sickle cell patients. However, it is becoming increasingly clear that under strenuous situations, some Hb AS carriers do experience heat illness and other life threatening problems while others do not. The purpose of this project is to determine if there is a genetic reason for why some athlete carriers of the sickle cell trait experience heat illness, while others do not. Although the genetic reason for the different clinical outcomes of sickle cell anemic patients is now well understood (different haplotypes result in different disease courses), the possibility that the same haplotypes might be the reason why some sickle cell carriers have worse clinical profiles has never been explored. In this project we will work with a sickle-cell trait registry of athletes, and we will test the haplotypes of Hb AS athletes who have and who have not had heat illness. Our study is the first to attempt to clarify if there is a genetic reason for this
Sponsor: University of South Florida

Current Primary Outcome: Poor health outcomes [ Time Frame: 30 minutes or less to complete survey and buccal swab ]

Any ill health events, such as excessive dehydration, muscle cramping, fatigue, shortness of breath, sickling crises, that can be linked to a sickling event.


Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of South Florida

Dates:
Date Received: June 25, 2013
Date Started: October 2012
Date Completion: December 2015
Last Updated: October 17, 2014
Last Verified: October 2014