Individuals with SickleCell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk\nfor exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors.We\nreport an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria,\nand episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex\nphenotype. The service member was taking prescription medications known to be associated with exertional rhabdomyolysis. He\ncarried a pathogenicmutation, NPHS2 p.V260E, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in\nfamilial episodic pain syndrome. Results suggest that drug-to-drug interactions coupled with the stress of exercise, coinheritance\nof HbAS and NPHS2 p.V260E, and p. R838Q in SCN11A contributed to exertional rhabdomyolysis, recurrent hematuria with\nproteinuria, and episodic pain, respectively. This case underscores the importance of comprehensive clinical and genetic evaluations\nto identify underlying causes of health complications reported in SCT individuals.
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