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Sickle Cell Disease-Epidemiology Genetics Pathophysiology PowerPoint Presentation

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Description : Check out this medical titled "Sickle Cell Disease: Epidemiology, Genetics, Pathophysiology” by Paula Tanabe, PhD, RN, FAEN, FAAN.

This medical is about Sickle Cell Disease (SCD), a genetic disorder that affects the structure and function of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Individuals with SCD have a mutated form of hemoglobin, known as hemoglobin S, that can cause red blood cells to become misshapen and rigid, forming a sickle shape.

The sickle-shaped red blood cells can clog small blood vessels, leading to a variety of health complications, including chronic pain, infections, organ damage, and stroke. SCD is a lifelong condition that can affect individuals of any age, although symptoms often first appear in early childhood.

SCD is caused by mutations in the HBB gene, which provides instructions for making hemoglobin. The disease is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated HBB gene (one from each parent) to develop the disease.

There is currently no cure for SCD, but treatments such as blood transfusions, medications, and bone marrow transplants can help manage symptoms and prevent complications. In addition, genetic counseling and prenatal testing are available for individuals and families who are at risk of passing on the disease.

Tags : Sickle Cell Disease, genetic disorder, hemoglobin, protein, red blood cells, Medical Genetics, Medical Genetics

Published on : Jun 01, 2023 | Views : 1310 | Downloads : 1

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Slide 1-

Sickle Cell Disease: Core Concepts for the Emergency Physician and NurseEpidemiology, Genetics, Pathophysiology Paula Tanabe, PhD, RN, FAEN, FAAN Associate Professor Duke University, Schools of Nursing and Medicine
Slide 2-

Objectives Identify the genotype associated with the most severe form of sickle cell disease (SCD) Identify the median lifespan for individuals with SCD
Slide 3-

Pretest- Question 1 Which genotype is associated with the most severe symptoms? SS SC SB0 SB+
Slide 4-

Pretest- Question 2 What is the median lifespan for most individuals with SCD? 20’s 30’s 40’s 50’s
Slide 5-

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
Slide 6-

SCD Common Genotypes Genotype Sickle cell anemia (SS, most severe form) Sickle/Hb C disease (SC, lesser severity, but can still have pain episodes, and life-threatening complications) Sickle/Beta plus thalassemia (Sβ+ thalassemia, similar to SC) Sickle/Beta zero thalassemia(Sβ° thalassemia, similar to SS) Approximate % of US Patients 65 % 25 % 8 % 2 %
Slide 7-

Comparison of Life ExpectancyUS Population vs. Sickle Cell Disease
Slide 8-

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
Slide 9-

What is the pathophysiology?
Slide 10-

Normal Vs. Sickle Red Cells Normal Biconcave disc-shaped Deformable Life span of 120 days Sickle Sickle-shaped Rigid Life span of 20 days or less Sticky surface, abnormal properties
Slide 11-

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
Slide 12-

Hemolysis and Vaso-occlusion Hemolysis Anemia in SCD is caused by red cell destruction, or hemolysis Degree of anemia varies widely between patients Red cell production by the bone marrow increases dramatically, but is unable to keep pace with the destruction Vaso-occlusion: Complex process initiated by rigid and abnormally shaped sickled RBC’s Abnormal adhesion occurs to the endothelium Activation of WBC’s, RBC’s & the endothelial surface which enhances the VOC process Results in tissue damage, hypoxia, necrosis, & organ dysfunction :
Slide 13-

Acute and Chronic Manifestations Acute Manifestations Bacterial sepsis or meningitis* Recurrent vaso-occlusive pain (dactylitis, musculo-skeletal or abdominal pain) Splenic sequestration* Aplastic crisis* Acute chest syndrome* Stroke* Priapism Hematuria, including papillary necrosis Chronic Manifestations Anemia Jaundice Splenomegaly Functional asplenia Cardiomegaly and functional murmurs Hyposthenuria and enuresis Proteinemia Cholelithiasis Delayed growth and sexual maturation Restrictive lung disease* Pulmonary hypertension* Avascular necrosis Proliferative retinopathy Leg ulcers Transfusional hemosiderosis* *Potential cause of mortality
Slide 14-

Clinical Scenario Cut and paste this link into your browser to view this short video https://www.youtube.com/watch?v=Uu5VTETlbZM&feature=youtu.be
Slide 15-

Posttest- Question 1 Which genotype is associated with the most severe symptoms? SS SC SB0 SB+
Slide 16-

Posttest- Question 2 What is the median lifespan for most individuals with SCD? 20’s 30’s 40’s 50’s
Slide 17-

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.
Slide 18-

References Hassell KL. Population estimates of sickle cell disease in the U.S. Am J Prev Med. 2010;38(4S):S512-S521. Platt et al. Mortality in sickle cell disease, life expectancy and risk factors for early death. NEJM 1994. 330: 1639-44. 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 http://wonder.cdc.gov/controller/datarequest/D79