From the Guidelines
Being homozygous for the HbS gene (SS genotype) results in the most severe form of sickle cell disease, and management strategies should prioritize reducing morbidity, mortality, and improving quality of life. For patients with sickle cell disease, being homozygous for the HbS gene (SS genotype) can have significant health implications, including chronic haemolytic anaemia, painful vaso-occlusive crises, and acute and chronic end-organ damage 1. Management strategies for homozygous sickle cell disease include:
- Hydroxyurea medication, which increases fetal hemoglobin production and reduces sickling episodes, as shown in a study where patients who received hydroxyurea had a lower annual rate of vaso-occlusive crises and required fewer transfusions 1
- Regular pain management with NSAIDs or opioids during crises
- Prophylactic antibiotics like penicillin to prevent infections
- Maintaining hydration and avoiding extreme temperatures
- Receiving pneumococcal and annual influenza vaccines
- Regular blood transfusions may be necessary for severe cases, and bone marrow transplantation offers a potential cure for eligible patients, as recommended by an international expert panel 1 Some key considerations for managing homozygous sickle cell disease include:
- Reducing the risk of allo-immunisation, which is estimated to occur in 7-30% of patients with sickle cell disease, by providing ABO, full Rh and Kell compatible blood 1
- Avoiding unnecessary transfusions, particularly to reduce the risk of allo-immunisation
- Planned surgery and anaesthesia should ideally be undertaken in centres with experience in caring for these patients, and pre-operative transfusion should be arranged by the haematology team according to written clinical guidelines 1
- Emerging data suggest that patients with sickle cell disease are at increased risk of COVID-19 infection, but may have a relatively mild clinical course, and outcomes are determined by pre-existing comorbidities, as for the general population 1
From the FDA Drug Label
The FDA drug label does not answer the question.
From the Research
Health Implications of Being Homozygous for a Particular Gene
- Being homozygous for the sickle cell gene, also known as sickle cell disease (SCD), can lead to significant health implications, including anemia, recurrent vaso-occlusive episodes, and increased risk of infections and acute chest syndrome 2, 3, 4.
- SCD is characterized by a mutation in the beta-globin gene, resulting in abnormal hemoglobin S (HgbS) production, which can cause red blood cells to become sickled and break down 2.
- The disease can lead to lifelong morbidity and reduced life expectancy, with patients often experiencing chronic pain, fatigue, and other complications 5, 4.
Management Strategies for Sickle Cell Disease
- Current management strategies for SCD include pharmacotherapy options such as hydroxyurea, voxelotor, L-glutamine, and crizanlizumab, as well as simple and exchange transfusions to reduce the level of sickled red blood cells 2, 3.
- Hydroxyurea has been shown to be effective in reducing the frequency of pain episodes and other acute complications in adults and children with SCD, particularly those with the HbSS or HbSβºthal genotypes 3, 4, 6.
- Other management strategies include intravenous hydration and pain management, as well as the use of sickle cell infusion centers (SCICs) to reduce hospital admissions and improve patient outcomes 2.
- Patient education, provider training, and policy changes are also necessary to improve hydroxyurea uptake and adherence among patients with SCD, particularly in low-resource settings 5.
Barriers to Effective Management
- Barriers to effective management of SCD include limited knowledge of the disease and its treatment options, perceived side effects, cost, and limited availability of hydroxyurea and other medications 5.
- Additionally, cultural and societal factors, such as religious beliefs and traditional medicine practices, can also impact patient adherence to treatment and overall health outcomes 5.