Heterozygous sickle mutation (sickle cell trait) | - Normal life expectancy
- Most individuals are asymptomatic
- Small but significant increased risk for certain complications:
- Exertion- heat- or dehydration-related sudden death or acute rhabdomyolysis
- Complications of high altitudes, or increased atmospheric pressure
- Increased risk of hematuria, UTI, CKD, hyposthenuria, renal medullary cancer
- Complications of traumatic hyphema*
- Slightly increased risk of VTE
- Underestimation of HbA1c
| - Counseling about risks of rare complications
- Conditioning and adequate hydration with exercise
- Immediate ophthalmology consultation for traumatic hyphema
- Gradual transition to extreme high altitudes
- Possible alternative methods of assessing glucose if HbA1c is borderline
- Preconception counseling and testing if appropriate
|
Homozygous sickle mutation or compound heterozygosity with another beta globin variant¶ (sickle cell disease) | - Acute and chronic pain
- Infection risk from functional asplenia
- Anemia or splenic or hepatic sequestration
- Stroke (ischemic and hemorrhagic)
- CKD
- Bone infarcts or avascular necrosis
- Priapism and erectile dysfunction
- Delayed puberty and reduced growth
- Skin ulcers
- Retinal artery occlusion or proliferative retinopathy
- VTE
- Multiorgan failure after exposure to G-CSF
- Reduced life expectancy
| - Comprehensive care
- Childhood vaccinations and penicillin
- Monitoring for disease complications
- Hydroxyurea in most cases
- Consideration of curative therapies
- Rapid intervention for complications
- Adequate pain control
- Avoidance of G-CSF
- Preconception counseling and testing if appropriate
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