Sickle Cell Anemia

Study Notes

A hereditary blood disorder characterized by the production of abnormal hemoglobin (HbS) in red blood cells
Abnormal hemoglobin causes red blood cells to become rigid, sticky, and sickle-shaped
Hemoglobin S is a structural variant of normal adult hemoglobin (HbA) caused by a missense variant in the β-globin gene (HBB)

Inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene to have the disease
People with only one copy of the mutated gene are carriers (sickle cell trait) and usually do not exhibit symptoms
Hemoglobin is composed of four subunits: two α subunits encoded by HBA on chromosome 16 and two β subunits encoded by HBB on chromosome 11
The p.Glu6Val variant in β-globin decreases the solubility of deoxygenated hemoglobin, causing it to form stiff fibrous polymers and distorting the red blood cell shape

Anemia
Splenomegaly
Repeated infections
Dactylitis (painful swelling of the hands or feet)
Vasoocclusive infarctions occur in many tissues, causing strokes, acute chest syndrome, renal papillary necrosis, autosplenectomy, leg ulcers, priapism, bone aseptic necrosis, and visual loss
Bone vasoocclusion causes painful “crises” that can persist for days or weeks if untreated

Pain management using medications and other therapies
Blood transfusions to reduce the number of sickle cells and increase the number of normal red blood cells
Hydroxyurea to reduce the frequency of pain episodes and acute chest syndrome
Bone marrow or stem cell transplant as a potential cure, typically used in severe cases
Preventive care, including vaccinations and antibiotics to reduce the risk of infections, and regular monitoring for complications

Mucosal pallor due to anemia
Delayed eruption of teeth
Bone changes, including "stepladder" trabecular pattern in the jawbones and generalized osteoporosis
Orofacial pain related to sickle cell crises or bone infarctions
Increased susceptibility to infections, including periodontitis
Gingival enlargement due to extramedullary hematopoiesis or medication use
Ulcerations and tissue necrosis due to reduced blood flow

Medical history and consultation with the patient's hematologist
Emphasis on good oral hygiene practices to prevent infections
Regular dental check-ups to monitor and maintain oral health
Pain management using appropriate analgesics and nitrous oxide-oxygen sedation
Hydration before, during, and after dental procedures to prevent sickling
Minimization of stress and anxiety during dental visits
Use of local anesthesia with vasoconstrictors cautiously and in minimal amounts
Infection control measures to prevent infections and use of prophylactic antibiotics for invasive dental procedures
Avoidance of procedures that may reduce oxygen levels
Management of dental infections promptly to prevent systemic involvement
Orthodontic treatment with careful planning and monitoring due to increased risk of osteonecrosis and delayed healing
Emergency care preparedness and coordination with the patient's medical team
Patient education on oral hygiene, regular dental visits, and management of oral pain and signs of infection

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