Primary prevention
UK guidelines recommend considering preconception testing (or premarital testing, if appropriate) for sickle cell disease in women from high-risk ethnic groups. If the woman is found to be a carrier, her partner should be offered screening.[15]
The American College of Obstetricians and Gynecologists recommends universal haemoglobinopathy testing for those planning pregnancy.[16][17] Haemoglobin electrophoresis or molecular genetic testing (e.g., expanded carrier screening that includes sickle cell disease) should be performed when planning pregnancy, or at the initial antenatal visit if there are no previous test results available.[16] If a woman is found to be a carrier, her reproductive partner should be offered screening.[17] Information and counselling should be offered alongside screening.[17][18]
If a carrier couple (both carriers for the same condition) is identified, they should be offered specific counselling to discuss genetic risk and reproductive options (e.g., donor gametes, pre-implantation testing, and antenatal diagnosis).[17][18]
Offering antenatal screening for sickle cell disease at the time of pregnancy confirmation in primary care may modestly increase the proportion of women screened before 10 weeks' gestation.[19]
Secondary prevention
Adult health maintenance recommendations for sickle cell disease patients[153]
Periodic screening is done for high blood pressure, lipid disorders, colorectal cancer, breast cancer, depression, primary prevention of cardiovascular events, and counselling for tobacco use. However, patient screening must be done with an understanding of concerns specific to sickle cell disease patients. For example, systolic and diastolic blood pressures in patients are generally lower than matched controls, so values within the normal range that are rising even modestly may indicate renal disease or other comorbid medical conditions. Patients who are being transfused should also be tested for hepatitis C.
Recommended to prevent unwanted pregnancies.
Combined hormonal contraceptives are not recommended because they increase the risk of thromboembolic disease.
Progesterone-only contraceptive implants and pills have no restrictions as they are not associated with an increased risk of thrombosis. In addition, progesterone-only contraceptives may be beneficial in reducing symptoms (e.g., menstrual-associated acute pain). Injectable progesterone-only contraceptives (depot medroxyprogesterone acetate) are associated with risk of venous thrombosis; decisions about the use of depot medroxyprogesterone acetate should take into account the severity of sickle cell disease and risk of thrombosis.
Levonorgestrel intrauterine devices have no restriction for use in sickle cell disease. Copper intrauterine devices are not usually recommended due to concern that risk of blood loss may be increased.[151][152]
Immunisation
Standard vaccinations as recommended in UK and US guidance, if not previously administered.[154] CDC: immunization schedules Opens in new window Live, attenuated influenza vaccine (LAIV) is contraindicated in people with sickle cell disease.[155]
Incidence and/or severity of certain vaccine-preventable diseases is higher in people with altered immunocompetence. People with sickle cell disease should follow recommended vaccine schedules (pneumococcal, Haemophilus influenzae type b [Hib], meningococcal) for those with anatomical or functional asplenia. CDC: altered immunocompetence Opens in new window CDC: vaccine-specific recommendations Opens in new window CDC: immunization schedules Opens in new window
Consult local guidance for further information.
Screening for complications
Transcranial Doppler (TCD) screening of children with HbSS or HbSB0 thalassaemia is recommended, starting at 2 years of age, continuing annually if TCD is normal (mean flow velocity <170 cm/second) or more frequently if TCD is marginal.[66][67] Children with abnormal results (mean flow velocity ≥200 cm/second) are tested again within 1-2 weeks.[67] TCD screening may be considered for children with sickle cell variants (other than HbSC), who have evidence of haemolysis in the same range as those with HbSS.[66]
MRI brain without sedation should be performed as soon as possible, in addition to TCD, in children and young adults with HbSS and Hb0 thalassemia to evaluate for silent cerebral infarct.[67] The American Society of Hematology recommends considering MRI screening at least once in early-school-age children and adults with HbSS and Hb0 thalassaemia.[66]
Surveillance for cognitive impairment (caused by silent cerebral infarction) using simplified signalling questions is recommended for children and adults.[66] Clinicians should elicit concerns about developmental delay in pre-school children, and concerns about neurodevelopmental disorders in school-age children. Reported concerns may include academic or behavioural problems, or symptoms of inattention, impulsivity or hyperactivity. If there are concerns, the child should have a developmental, cognitive and medical evaluation to diagnose any related disorders and identify modifiable risk factors for developmental delay or cognitive impairment.[66]
Screening for retinopathy with a dilated eye examination beginning at age 10 years.[38]
Antibiotic prophylaxis of pneumococcal infection
Given from the time of diagnosis, until 5 years of age. One systematic review of randomised controlled trials of the effects of prophylactic antibiotic regimens for preventing pneumococcal infection in children with sickle cell disease found that prophylactic penicillin significantly reduced the risk of pneumococcal infection.[39]
Use of penicillin was associated with minimal adverse reactions; however, rashes are common.[39] A dose reduction may be required in patients with severe renal impairment if using a parenteral penicillin regimen.
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