Rebecca Evans, LCGC Indiana Hemophilia and Thrombosis Center Indianapolis, IN

1. A Pilot Study to Measure the Effectiveness of a Neonatal Sickle Cell Screening and Comprehensive Care Program in Kenya Rebecca Evans, LCGC Indiana Hemophilia and Thrombosis Center Indianapolis, IN

2. Presenter Disclosures Rebecca Evans, LCGC The following personal financial relationships with commercial interests relevant to this presentation existed during the past 12 months: • No relationships to disclose

3. Sickle Cell Disease • An inherited hemoglobinopathy that results from a one amino acid substitution on the β-globulin molecule of hemoglobin • Causes red blood cells to be rigid and form insoluble polymers • Complications • Infection • Pain • Organ failure • Stroke • Anemia • Jaundice • Bone damage • Leg ulcers • Lung blockage • Death Is sickle cell trait the same thing? Image: Genetic Science Learning Center, University of Utah, http://learn.genetics.utah.edu

4. Therapies Available Leads to significant reduction in mortality1,2 • Prophylactic antibiotics • Vaccinations • Folic acid • Blood transfusions • Hydroxyurea Is there a cure? Yes, a bone marrow transplant; however, only about 150 have been successful worldwide.3 Quinn CT, et al. Survival of children with sickle cell disease. Blood 2004;103(11):4023-7. Telfer P, et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologia2007; 92(7):905-12. The management of sickle cell disease. National Institutes of Health. National Heart, Lung and Blood Institute. NIH Publication No. 02-2117. 4th edition. 2002.

5. A Disease of Urgent Priority In 2004 and 2005, UNESCO, the African Union, and the World Health Organization officially listed sickle cell disease as a disease of urgent priority in sub-Saharan Africa. However, since then, very little has been done due to limited resources, expertise and advocacy. UNESCO. General Conference, 33rd Session, Commission II. Paris, France. 2005 Assembly of the African Union, 5th Ordinary Session. Sirte, Libya. 2005. World Health Organization, 117 Session EB117/34. 2006.

6. Identification of the Problem:Sickle Cell Disease in the U.S. versus Kenya There are limited facilities in Kenya that provide access to testing and NO broad-based screening programs exist. 1.Hassell KL. Population estimates of sickle cell disease in the U.S. American journal of preventive medicine 2010;38:S512-21. 2. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 2010;376:2018-31. 3. http://www.nlm.nih.gov/medlineplus/ency/article/000527.htm. 4. Quin CT, Rogers ZR, Buchanan GR. Survival of children with sickle cell disease. Blood 2004;103(11):4023-7. 5. http://www.who.int/genomics/public/Maphaemoglobin.pdf. 6. WHO. Sickle-cell anemia. World Health Organization Assembly Journal 2006;6:A59/59.

7. The Indiana Hemophilia and Thrombosis Center’s Link to Africa: A Twinning Program • 1989: Indiana University and Moi Teaching and Referral Hospital (MTRH), located in Eldoret, Kenya, developed a Twinning Program to combat HIV/AIDS • 2010: Indiana Hemophilia and Thrombosis Center and MTRH forged an independent Twinning Program • Goal: Expand the non-malignant hematology program to include hemophilia and hemoglobinopathy diagnosis and comprehensive care. • Results: • Through four site visits, Kenya’s only functional coagulation laboratory and comprehensive care program for individuals with hemophilia was developed. • A lab to detect sickle cell disease and other hemoglobinopathies was setup and validated and staff were extensively trained. • Present (October-November 2012): IHTC is currently on it’s 5th MTRH site visit. • The newborn sickle cell screening program will be piloted.

8. Logistics of the Neonatal Sickle Cell Disease Screening Program ~40 births/day at MTRH (~73 with SCD/year) Isoelectric focusing gel used for detection Mothers of these infants will be educated about the screening program and must provide informed consent Free testing will be provided before discharge Patients/families will be contacted by phone within 1 week if positive for a hemoglobinopathy Confirmatory testing will be performed at the patients 3 month follow-up visit

9. Education and Provision of Antibiotics and Vaccinations • Culturally appropriate education will be provided to patients/families • Prophylactic penicillin and folic acid will be provided free of charge up through 5 years of age • Individuals will be given required vaccinations through Kenya’s existing immunization program

10. The Economics • Newborn screening for every child born at MTRH= $508 total/year Treatment costs for those diagnosed with sickle cell disease • Prophylactic Penicillin= $12/person/year • ~73 diagnosed/year= $876 total/year • Folic Acid= $30/person/year • ~73 diagnosed/year= $2190 total/year • Vaccinations: provided free-of-charge through Kenyan government Total cost, including diagnosis and treatment, is $3574/year

11. Outcomes Measures to Demonstrate Feasibility • Actual number of births at MTRH during the pilot study • Number of presumptive positive tests that had a confirmed diagnosis within 6 months of age • Under five mortality rate for the population that tested positive • Number of children in the pilot study placed on antibiotic prophylaxis • Number of families/caregivers educated on the diagnosis of sickle cell disease

12. Public Health Implications • Hypothesis: Implementation of a neonatal screening program in Kenya will decrease morbidity and mortality in children with sickle cell disease. • The testing and interventions are economical and cost-effective. We propose that this pilot program will demonstrate feasibility and serve as a model likely replicable in other Africa settings.

13. Goals: Present and Future • Decrease morbidity/mortality of those affected by providing life-saving screening, education and therapies. • Offer hydroxyurea to the list of available treatments (we are currently working with pharmaceutical companies to make this possible) • Extend the program to counsel individuals with sickle cell trait. • Develop culturally sensitive neonatal sickle cell screening programs throughout other regions of Kenya and sub-Saharan Africa.