Abstract
Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. The service member was taking prescription medications known to be associated with exertional rhabdomyolysis. He carried a pathogenic mutation, NPHS2 p.V260E, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in familial episodic pain syndrome. Results suggest that drug-to-drug interactions coupled with the stress of exercise, coinheritance of HbAS and NPHS2 p.V260E, and p. R838Q in SCN11A contributed to exertional rhabdomyolysis, recurrent hematuria with proteinuria, and episodic pain, respectively. This case underscores the importance of comprehensive clinical and genetic evaluations to identify underlying causes of health complications reported in SCT individuals.
Highlights
Sickle Cell Trait (SCT) is a carrier state (HbAS) of a hemoglobin mutation that causes Sickle Cell Disease, one of the most common monogenic inherited blood disorders in humans
We report clinical and genetic studies of a service member with SCT who presented with exertional rhabdomyolysis, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities
Whole exome sequencing (WES) results for other genes associated with metabolic myopathies implicated in rhabdomyolysis were negative
Summary
Sickle Cell Trait (SCT) is a carrier state (HbAS) of a hemoglobin mutation that causes Sickle Cell Disease, one of the most common monogenic inherited blood disorders in humans. Pain in SCT individuals has been reported in association with splenic infarction and pulmonary embolism [1, 3]. In these settings, SCT carriers experience acute pain in chest or left upper abdomen which is again thought secondary to HbAS driven vasoocclusive event. We report clinical and genetic studies of a service member with SCT who presented with exertional rhabdomyolysis, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Our study results underscore the importance of detailed clinical and genetic evaluations to identify underlying causes of health complications reported in SCT individuals
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