Major clinical complications of SCT and proposed counseling recommendations
| Complication . | Recommendations for counseling . |
|---|---|
| Exertion-related injury | The vast majority of individuals with SCT will never experience an exertion-related injury event |
| Even among those involved in high-intensity competitive sports or training, the absolute risk of exertional injury with SCT is low | |
| Exertional injury in SCT does not seem to occur with usual exercise or low- to moderate-intensity exertion | |
| Modifiable factors such as activity duration/recovery, hydration, and climate acclimation likely influence the risk of exertional injury in SCT | |
| Universal precautions, such as those employed by the military,* seem to mitigate the risk of exertional injury in all individuals, irrespective of SCT status | |
| Screening for SCT, even in high-intensity settings, is not necessary, especially when universal precautions are instituted | |
| CKD | CKD occurs in ∼15%-35% of adults with SCT age >45 y, which is approximately twice the risk of those without SCT |
| The risk of progression to ESRD in carriers of SCT is unknown | |
| Not all SCT carriers are at risk for CKD, and those with coinheritance of α-thalassemia mutations may be protected from developing CKD | |
| Modifiable factors such as coexisting diabetes may influence the risk of CKD in SCT | |
| Therapies for the prevention and treatment of CKD in SCT are unknown | |
| Research is needed to determine the benefit of screening SCT carriers for CKD | |
| RMC | RMC is an exceedingly rare cancer; therefore, the vast majority of individuals with SCT will never develop RMC |
| RMC can occur in children or adults, with ∼50% of cases occurring at <21 y of age | |
| Hemoglobinopathy testing should be performed in any child or young adult with micro- or macroscopic hematuria | |
| Prompt referral to urology or renal imaging should be performed in any individual with SCT and unexplained hematuria | |
| Routine screening for RMC among known SCT carriers without concerning symptoms is not recommended given the rarity of the diagnosis | |
| VTE | SCT is a low-risk thrombophilia, similar to factor V Leiden or prothrombin gene mutation |
| Screening for SCT in individuals with VTE is not recommended, and its presence should not influence anticoagulation duration | |
| D-dimer results in SCT carriers should be interpreted with caution and may not be reliable for guiding anticoagulation discontinuation or ruling out VTE | |
| Stroke | SCT does not seem to be a risk factor for ischemic stroke |
| SCT should not be assumed to be the etiology of stroke in an SCT carrier, and additional workup for underlying cause should be pursued |
| Complication . | Recommendations for counseling . |
|---|---|
| Exertion-related injury | The vast majority of individuals with SCT will never experience an exertion-related injury event |
| Even among those involved in high-intensity competitive sports or training, the absolute risk of exertional injury with SCT is low | |
| Exertional injury in SCT does not seem to occur with usual exercise or low- to moderate-intensity exertion | |
| Modifiable factors such as activity duration/recovery, hydration, and climate acclimation likely influence the risk of exertional injury in SCT | |
| Universal precautions, such as those employed by the military,* seem to mitigate the risk of exertional injury in all individuals, irrespective of SCT status | |
| Screening for SCT, even in high-intensity settings, is not necessary, especially when universal precautions are instituted | |
| CKD | CKD occurs in ∼15%-35% of adults with SCT age >45 y, which is approximately twice the risk of those without SCT |
| The risk of progression to ESRD in carriers of SCT is unknown | |
| Not all SCT carriers are at risk for CKD, and those with coinheritance of α-thalassemia mutations may be protected from developing CKD | |
| Modifiable factors such as coexisting diabetes may influence the risk of CKD in SCT | |
| Therapies for the prevention and treatment of CKD in SCT are unknown | |
| Research is needed to determine the benefit of screening SCT carriers for CKD | |
| RMC | RMC is an exceedingly rare cancer; therefore, the vast majority of individuals with SCT will never develop RMC |
| RMC can occur in children or adults, with ∼50% of cases occurring at <21 y of age | |
| Hemoglobinopathy testing should be performed in any child or young adult with micro- or macroscopic hematuria | |
| Prompt referral to urology or renal imaging should be performed in any individual with SCT and unexplained hematuria | |
| Routine screening for RMC among known SCT carriers without concerning symptoms is not recommended given the rarity of the diagnosis | |
| VTE | SCT is a low-risk thrombophilia, similar to factor V Leiden or prothrombin gene mutation |
| Screening for SCT in individuals with VTE is not recommended, and its presence should not influence anticoagulation duration | |
| D-dimer results in SCT carriers should be interpreted with caution and may not be reliable for guiding anticoagulation discontinuation or ruling out VTE | |
| Stroke | SCT does not seem to be a risk factor for ischemic stroke |
| SCT should not be assumed to be the etiology of stroke in an SCT carrier, and additional workup for underlying cause should be pursued |
ESRD, end-stage renal disease.
More information provided in Table 2.