SICKLE CELL DISEASE IN GEORGIA
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1 SICKLE CELL DISEASE IN GEORGIA Peter A Lane, MD Professor of Pediatrics Emory University School of Medicine Director, Sickle Cell Disease Program Children s Healthcare of Atlanta
2 SICKLE CELL DISEASE IN GEORGIA Objectives Review the genetics, pathophysiology, and clinical manifestations of SCD Describe the organization of and access to newborn screening follow up services Recall the incidence, demographics and mortality of SCD in Georgia Outline challenges of transition to adult care for individuals with SCD
3 SICKLE CELL DISEASE IN GEORGIA Brief Overview of SCD Pathophysiology Clinical manifestations Genetics and inheritance GA Newborn Screening and Follow up Program Results of SCD surveillance in Georgia SCD mortality in Georgia Transition to adult care
4
5 Sickle Hemoglobin (Hb S) Point mutation in β globin: β6 (Glu Val) Most common hemoglobin variant worldwide Sickle cell trait (AS) 7 8% Africans Americans Hispanic, Mediterranean, Middle East, Caribbean, India, Central & South America 100,000 persons with SCD in US Deoxy Hb S polymerizes Damages RBC hemolysis Vaso occlusion and tissue injury
6 SICKLE CELL DISEASE Clinical Manifestations of Hemolysis Chronic anemia Jaundice Cholelithiasis Aplastic crisis Decreased energy / exercise intolerance Growth and pubertal delay
7 Sickling and Vaso-occlusion
8 SICKLE CELL DISEASE Hemolysis Complex Progressive AAC Chronic Vasculopathy Vasoocclusion Acute Events Pain Splenic sequestration Infection Acute chest syndrome Stroke Priapism Treatment Complications Medication toxicity Iron overload RBC alloimmunization Other iatrogenic Chronic Organ Damage Splenic dysfunction Chronic pain Lung disease Neuro cognitive Pulm hypertension Nephropathy Psychosocial Complications Absence from school & work Academic achievement Readiness for transi on Stress, depression, self esteem Quality of Life Morbidity Early Death High Cost
9 Sickle Cell Anemia: Autosomal Recessive Inheritance
10 SICKLE CELL DISEASE Genotype * Approx % of U.S. Patients Hemolysis Vasoocclusion Hb SS Hb SC S β+ thalassemia 0 S β thalassemia / / SD, SO, SE, SLepore 1 Varies Varies *Each genotype characterized by largely unpredictable and widely variable phenotype
11 SICKLE CELL DISEASE Family testing for Carriers * Individuals at risk Sickle cell trait (AS) Hemoglobin C trait (AC) β thalassemia Other hemoglobin variants Laboratory testing Hemoglobin electrophoresis, HPLC CBC / MCV Quantitation of A2 & F if MCV low or low normal Sickledex (Hemoglobin S solubility test) *Provided by Sickle Cell Foundation of Georgia at reduced cost
12 NEWBORN SCREENING FOR SCD IN GEORGIA 1980: Targeted screening of cord blood 1998: Universal screening of NBS dried blood spot specimens ~130,000 births per year ~130 infants with SCD born annually (SS, SC, Sβ+thal, Sβᴼthal, other SCD genotypes) SCD most prevalent disorder identified by NBS in GA (1:1,000)
13 Newborn Screening for SCD in GA HPLC and isoelectric focusing Genotype Approx % of U.S. Patients Newborn Screening Results Hb SS 65 FS SC 25 FSC S β + - Thalassemia S β o - Thalassemia 8 FSA or FS 2 FS
14 Newborn Screening for SCD in GA HPLC and isoelectric focusing Genotype % of U.S. Patien ts Newbo rn Screeni ng Results SS 65 FS SC 25 FSC S β + - Thalasse mia S β o - 8 FSA or FS
15 NEWBORN SCREENING (NBS) in GA DPH Follow up Program in GA Clinically significant disease (FS, FSC, FSA FC, FE) NBS lab faxes results to NBS F/U coordinators (CHOA/GRU) Confirmatory testing (Hgb electrophoresis/hplc) Parental education Penicillin prophylaxis (SCD) Referral for comprehensive specialty care Complete follow up activities within 2 months of age Heterozygous carriers (FAS, FAC, FAE, etc) Results sent to Sickle Cell Foundation of Georgia Family testing, education, and counseling
16 Newborn Screening in Georgia: ~130 infants with SCD /yr NBS lab faxes results to F/U Programs CHOA for metro Atlanta (~85/yr) GRU for non metro Atlanta (~65/yr) Columbus Macon Augusta Savannah F/U Coordinators at CHOA and GRU Contact PCP within hr (~60%) Contacts families directly (~40%) Coordinates F/U activities with PCP Confirmatory testing Initiation of PCN prophylaxis Referral to Comprehensive SCD clinics Referral for family testing Documentation in SENDSS Emory University 16
17 Sickle Cell Disease Program Children s Healthcare of Atlanta Largest in US (1,700 active patients annually) Comprehensive clinics, ED and inpatient services Egleston Scottish Rite Hughes Spalding Multidisciplinary SCD teams on all 3 campuses Hematologists, nurse practitioners, nurses, social workers, psychologists, child life specialists, chaplains NBS Follow up Program Confirmatory testing in CHOA lab Initial outpatient consultation Subsequent coordination of care with PCP
18 NEWBORN SCREENING FOR SCD Screening System Failures Blood transfusion prior to screening Extreme prematurity Sample never drawn or lost in transit to lab Inadequate sample Mislabeled specimen Laboratory or clinical error Inability to locate infant Inappropriate confirmatory testing or interpretation Parental denial
19
20 NEONATAL SCREENING RESULTS No news is no news!
21 SCD SURVEILLANCE IN GEORGIA The GA RuSH & PHRESH Projects Funded by NIH and CDC (one of 7 states) Surveillance to estimate the number of individuals with SCD Age, SCD genotype Demographics Healthcare utilization Morbidity and mortality Partners Georgia Department of Public Health Georgia Health Policy Center, Georgia State SCD Center at Grady SCD Program at Children s Healthcare of Atlanta SCD Program at Georgia Reagents University Sickle Cell Foundation of Georgia
22 Case Contributions by Data Set Data Set Confirmed SCD Probable SCD Total SCD Newborn Screening GRU (clinic) 1, ,232 Grady (clinic) 1, ,663 CHOA (clinic) 1, ,150 Medicaid/CHIP 2,986 1,993 4,979 State Health Benefit Plan Hospital administrative data 3,339 2,147 5,486 De duplicated Total 4,288 3,011 7,299 Plus 77 deaths with D57 ICD10 code included as underlying cause of death Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
23 Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
24 Georgia Residents with SCD by County SCD births SCD residents per 100, Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH) 24
25 Care Providers for SCD Patients in GA Provider Specialty Outpatient Visits Percentage of Visits Internal Medicine 52,890 19% Family Practice/General Practice 48,161 17% Pediatrics 40,554 14% Hematology 31,512 11% Emergency Medicine 16,976 6% Population: Medicaid all cause outpatient visits for confirmed and probable cases of SCD Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
26 Hospital Encounters by Age for SCD* * For individuals who had at least one ER or in patient encounter in Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
27 Age at Date of Death in SCD RuSH Dx Level Observations N Mean Median Mode Confirmed Probable Total Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
28 Data from Georgia Registry and Surveillance for Hemoglobinopathies (RuSH)
29 BARRIERS AND CHALLENGES TO TRANSITION TO ADULT CARE Parents enablement and fostering of dependency Pediatricians enablement and fostering dependency Over dependence on pediatric providers Adolescents lack of SCD specific knowledge Some have neurocognitive and/or developmental delays Many have low self-esteem and self reliance Many have inadequate academic and vocational skills Many lack of health insurance Lack of adult providers with interest and expertise in SCD Ineffective pediatric / adult provider communication
30 SICKLE CELL DISEASE IN GEORGIA Summary Major health issue in children and adults across GA Multiple SCD genotypes with variable manifestations and severity Complex progressive chronic vasculopathy Life-threatening acute and chronic complications Significant morbidity and early mortality Newborn F/U programs housed at CHOA and GRU Prompt confirmatory testing, family education, specialty care, ongoing partnership between SCD clinic and PCP Major challenges with transition to adult care Inadequate number of adult providers with expertise in SCD Marked increase in ED and inpatient utilization and mortality after age 18
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