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The document summarizes key concepts about sickle cell disease (SCD) including epidemiology, genetics, pathophysiology, clinical manifestations, and life expectancy. It notes that the SS genotype is associated with the most severe form of SCD and has a median lifespan of 40's. The pathophysiology involves rigid, sickle-shaped red blood cells that cause hemolysis and vaso-occlusion resulting in acute complications like pain crises and chronic issues like organ damage.
The document summarizes key concepts about sickle cell disease (SCD) including epidemiology, genetics, pathophysiology, clinical manifestations, and life expectancy. It notes that the SS genotype is associated with the most severe form of SCD and has a median lifespan of 40's. The pathophysiology involves rigid, sickle-shaped red blood cells that cause hemolysis and vaso-occlusion resulting in acute complications like pain crises and chronic issues like organ damage.
The document summarizes key concepts about sickle cell disease (SCD) including epidemiology, genetics, pathophysiology, clinical manifestations, and life expectancy. It notes that the SS genotype is associated with the most severe form of SCD and has a median lifespan of 40's. The pathophysiology involves rigid, sickle-shaped red blood cells that cause hemolysis and vaso-occlusion resulting in acute complications like pain crises and chronic issues like organ damage.
Associate Professor Duke University, Schools of Nursing and Medicine Objectives • Identify the genotype associated with the most severe form of sickle cell disease (SCD) • Identify the median lifespan for individuals with SCD Pretest- Question 1 Which genotype is associated with the most severe symptoms? a. SS b. SC c. SB0 d. SB+ Pretest- Question 2 What is the median lifespan for most individuals with SCD? a. 20’s b. 30’s c. 40’s d. 50’s Epidemiology of SCD • SCD is a genetic disease affecting70,000 – 100,000 Americans, primarily of African descent 1 – Most common genetic disease among blacks – SCD occurs in 1 of every 500 black births • 1:1,100 Hispanics (eastern states) • 1:32,000 Hispanics (western states) • SCD occurs in many other ethnic groups, including Northern Europeans and those that live in the Middle Eastern Countries • 1:12 African-Americans are carriers (trait) for the disorder SCD Common Genotypes
Genotype Approximate % of US Patients
• Sickle cell anemia (SS, most 65 % severe form) • Sickle/Hb C disease (SC, lesser severity, but can still have pain 25 % episodes, and life-threatening complications) • Sickle/Beta plus thalassemia 8% (Sβ thalassemia, similar to SC) +
• Sickle/Beta zero thalassemia
(Sβ° thalassemia, similar to SS) 2% Comparison of Life Expectancy US Population vs. Sickle Cell Disease Changes in Life Expectancy • National Center for Health Statistics 3 • Compared 1999-2007 with 1979-1998 • Largest declines in ages 0-4 • Smaller but significant declines up to age 19 – Due to prophylactic treatment with penicillin and vaccinations – Transcranial doppler screening identifies children at risk of stroke; placed on chronic transfusion therapy to prevent stroke • No differences in the 20-24 age group • Increase in death rate ages: 45-54, 55-65, and 65-75 What is the pathophysiology? Normal Vs. Sickle Red Cells Normal Sickle • Biconcave disc-shaped • Sickle-shaped • Deformable • Rigid • Life span of 120 days • Life span of 20 days or less • Sticky surface, abnormal properties Prolonged Sickling of RBC’s
• After recurrent episodes of
sickling – membrane damage occurs – cells not capable of resuming biconcave shape upon re- oxygenation • Deformed sickle cells adhere to endothelium & macrophages – induces hemolytic process Hemolysis and Vaso-occlusion Hemolysis Vaso-occlusion: • Anemia in SCD is caused • Complex process initiated by by red cell destruction, or rigid and abnormally shaped hemolysis sickled RBC’s • Degree of anemia varies • Abnormal adhesion occurs to widely between patients the endothelium • Red cell production by the • Activation of WBC’s, RBC’s & bone marrow increases the endothelial surface which dramatically, but is unable enhances the VOC process to keep pace with the • Results in tissue damage, destruction hypoxia, necrosis, & organ dysfunction Acute and Chronic Manifestations Acute Manifestations Chronic Manifestations • Bacterial sepsis or meningitis* • Anemia • Recurrent vaso-occlusive pain • Jaundice (dactylitis, musculo-skeletal or • Splenomegaly abdominal pain) • Functional asplenia • Splenic sequestration* • Cardiomegaly and functional • Aplastic crisis* murmurs • Acute chest syndrome* • Hyposthenuria and enuresis • Stroke* • Proteinemia • Priapism • Cholelithiasis • Hematuria, including papillary • Delayed growth and sexual necrosis maturation • Restrictive lung disease* • Pulmonary hypertension* • Avascular necrosis • Proliferative retinopathy *Potential cause of mortality • Leg ulcers • Transfusional hemosiderosis* Clinical Scenario
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view this short video • https://www.youtube.com/watch?v=Uu5VTET lbZM&feature=youtu.be Posttest- Question 1 Which genotype is associated with the most severe symptoms? a. SS b. SC c. SB0 d. SB+ Posttest- Question 2 What is the median lifespan for most individuals with SCD? a. 20’s b. 30’s c. 40’s d. 50’s Posttest Answers & Rationale • Question 1 – Answer : a) SS – Rationale: Patients with SS have the most severe form of the disease which is associated with more complications. However, all patients can experience pain and multiple other complications. • Question 2 – Answer: c) 40’s – Rationale: The median lifespan continues to be 48 for females and 42 for males. References 1. Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38(4S):S512-S521. 2. Platt et al. Mortality in sickle cell disease, life expectancy and risk factors for early death. NEJM 1994. 330: 1639-44. 3. Hamideh, D. Trends in Mortality Among Patients with SCD in the United States. Is there any change in the past 10 years? 2012. 6th Annual Sickle Cell Disease Research and Educational Symposium & Annual National SCD Scientific Meeting 4. http://wonder.cdc.gov/controller/datarequest/D79