Transcript Sickle Cell Disease

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
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
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
Therapies Available
1.
2.
3.
4.
5.
Prophylactic antibiotics
Vaccinations
Folic acid
Blood transfusions
Hydroxyurea
Leads to significant
reduction in mortality1,2
Is there a cure? Yes, a bone marrow transplant;
however, only about 150 have been successful
worldwide.3
1.
2.
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. Haematologia 2007;
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.
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 subSaharan Africa.
However, since then, very little has been done due
to limited resources, expertise and advocacy.
1. UNESCO. General Conference, 33rd Session, Commission II. Paris, France. 2005
2. Assembly of the African Union, 5th Ordinary Session. Sirte, Libya. 2005.
3. World Health Organization, 117 Session EB117/34. 2006.
Identification of the Problem:
Sickle Cell Disease in the U.S. versus Kenya
U.S.1-4
Kenya5,6
1:365 African Americans
1:16,305 Hispanics
1:200
72,000 – 84,000
208,000
Age at diagnosis
Birth (Mandatory Newborn
Screening)
Unknown (many die prior to
diagnosis)
Therapies provided
Penicillin, vaccinations, folic
acid, blood transfusions,
hydroxyurea
Little to None
45-55 years
5 years
Incidence
Prevalence
Average life expectancy
There are limited facilities in Kenya that provide access to testing and NO broadbased 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.
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.
Logistics of the Neonatal Sickle Cell Disease
Screening Program
~40 births/day at
MTRH
(~73 with
SCD/year) Mothers of these
infants will be
educated about
the screening
program and must
provide informed
Free testing will
consent
be provided
before discharge
Isoelectric focusing gel used for detection
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
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
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
Outcomes Measures to Demonstrate
Feasibility
1. Actual number of births at MTRH during the
pilot study
2. Number of presumptive positive tests that had a
confirmed diagnosis within 6 months of age
3. Under five mortality rate for the population that
tested positive
4. Number of children in the pilot study placed on
antibiotic prophylaxis
5. Number of families/caregivers educated on the
diagnosis of sickle cell disease
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.
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 subSaharan Africa.