Sickle Cell Disease

I Sickle Cell Disease Dr. Leiva Sickle Cell Disease - Epidemiology • Group of Inherited autosomal recessive red blood cell disorders that results in mutated form of Hb (HbS) • Sickle hemoglobin (Hb-S) varies from Hb-A by a single amino acid mutation substitution between valine and glutamic acid in the sixth position on the beta globin chains • 3 main types • Sickle cell anemia • Sickle-hemoglobin C disease • Beta-thalassemia • SCD affects approximately 100,000 Americans • SCD occurs in 1 out of every 365 AA births and 1 out of every 16,300 Latinx births Sickle Cell Disease Pathophysiology bRBCcan'tflew freelyin Bood as Acute and Chronic Pain Consequences of SCD __ seriousissue Acute and Chronic Complications of SCD • Avascular necrosis • Priapism • Acute chest syndrome • • • • • • Progresses quickly; most common cause of death in patients with SCD Bone marrow or fat embolism from bone marrow ischemia  particles travel to lungs and trigger vaso-occlusion Can also be caused by infection especially in children Asthma Hypoventilation can cause sickling 50% of SCD patients will experience ACS at least once • Stroke • Splenic complications • Infection and sepsis • Patients are functionally asplenic • Organ failure • Psychosocial Infection Prevention Sickle Cell Crisis Management • Treat the underlying cause and minimize damage to tissues • Transfusions • IV hydration • Pain medication (IV or PO) – IV faster onset • Antibiotics – particularly for febrile patients • Work with patients and/or parents to prevent triggers • Treat outpatient whenever possible, bring in for intractable pain or other serious manifestations of disease Hydroxyurea – First Line Therapy • Mainstay of prevention: HbF frisket WBC Siddle • MOA: ribonuclease reductase inhibitor thought to decrease risk of sickling by increasing Hb-F, decreasing WBC, and altering adhesive receptors on sickle retics and endothelium. • Criteria for use: is • Anemia and vaso-occlusive crisis • • • • • • Frequent painful episodes (six or more per year) [54] History of acute chest syndrome History of other severe vaso-occlusive events Severe symptomatic anemia Severe unremitting chronic pain that cannot be controlled with conservative measures History of stroke or a high risk for stroke • Patients receiving hydroxyurea require frequent blood testing and monitoring, with special attention to development of leukopenia and/or thrombocytopenia- tetratogenic so contraception should be encouraged for those sexually active. i I cutaneous 53 toxicities, secondary malignancies, chills, rever, • ADRs – myelosuppression, headache, and GI upset. Other Treatment Options and Management Health Disparities • People with SCD have less access to comprehensive team care than people with genetic disorders such as hemophilia and cystic fibrosis • Under prescribing of hydroxyurea • No national surveillance system • Drugs and care may be expensive • Barriers to obtaining pain medications • Lack of primary care • Institutionalized racism and systemic barriers