Sickle Cell Disease

Sickle cell trait is distributed throughout the world with high prevalence in sub-Saharan Africa, the Middle East, as well as some Caribbean islands and Mediterranean countries.

Sickle cell trait and disease (allele S) are due to a mutation in the beta globin gene (normal - allele A):



National Heart, Lung, and Blood Institute; National Institutes of Health; U.S. Department of Health and Human Services. Sickle Cell Disease. With permission.

Although patients with sickle cell trait (HbAS) may be at higher risk of certain conditions such as a higher prevalence of renal disease and thromboembolic events, they are usually asymptomatic and should be managed as the rest of the general population.

Sickle cell disease patients (HbSS) have chronic hemolytic anemia and are at high risk of multiple conditions: vaso-occlusive episodes, acute chest syndrome, severe infection, aplastic crisis, stroke and TIA, renal insufficiency, avascular necrosis, retinopathy, and many others.

 

MANAGEMENT

While all sickle cell disease patients should be followed by a Hematologist, the family physician can still play a role in the education and preventive care of these patients. Here are a few elements that can be addressed by the family physician, especially while waiting for the initial hematology consult:

  • Education about potential dangerous symptoms

Patients/families should seek prompt medical attention whenever a patient with sickle cell disease has fever, acute bodily pain, abdominal pain, chest pain, respiratory symptoms, neurological symptoms or priapism. Families should have a thermometer at home to monitor for fever.

Until patients/families are comfortable with the management of vaso-occlusive painful episodes, any bodily pain should be assessed by a physician who has experience treating complications of sickle cell disease.

  • Education about the triggers of vaso-occlusive episodes

Dehydration, illness, fever, surgery, exposure to cold and psychological stress.

  • Infection prophylaxis

Sickle cell patients should receive antimicrobial prophylaxis from age 2 months to 5 years. Patients under 3 years old should take Penicillin V 125mg twice daily and patients over 3 years old should take Penicillin V 250mg twice daily.

  • Vaccination

All sickle cell patients should be referred for pneumococcal (PCV13 and PPV23) and meningococcal (serogroups B + ACYW-135) immunization, as well as the routine immunization schedule.

  • Nutrition

Growth should be monitored at every visit. All sickle cell patients should take a daily folic acid supplement (1mg). Also, they should be offered a daily multivitamin without iron. Because of the risk of iron overload, iron-containing supplements should be avoided unless the patient is shown to be iron deficient. Review the patient’s intake of calcium and vitamin D and recommend supplements if needed.

  • Renal function monitoring

Blood pressure measurement as well as serum creatinine, urine microscopy and urine microalbumin should be done annually.

  • Referral for screening ophthalmologic examination

Because of the risk of retinopathy, all newly diagnosed sickle cell disease patients should be referred for a full ophthalmologic examination. If the initial exam is normal, the patient should have a routine follow-up every 1-2 years.

Variant combination sickle cell syndromes, such as Hemoglobin SC disease and Sickle beta thalassemia, are also sometimes diagnosed in refugee patients, but these are not covered in this resource.

 

>> Refer to the CanHaem Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada for more information.