Miller School Pediatrician Receives Research Grant to Study Sickle Cell Disease in Haitians
A pediatrician at the University of Miami Miller School of Medicine has received a $2.7 million grant from the National Institutes of Health for a comparative study of sickle cell disease in children born in Haiti and Miami. The study also supports expansion of a life-saving screening program for newborns in Haiti.
“The new five-year study will evaluate the comparative incidence of sickle cell disease among newborns in Miami of African-American heritage and those of Haitian heritage,” said Ofelia Alvarez, M.D., professor of clinical pediatrics and director of the Pediatric Sickle Cell Program. “We want to determine if the incidence is higher among children of Haitian heritage.”
Sickle cell disease is a group of inherited red blood cell disorders that primarily affect children of African ancestry. The abnormally shaped cells can leave a child vulnerable to infection, and increase the risk of stroke, anemia, chronic pain, and other conditions.
“It is vital for newborns to be screened for sickle cell disease,” said Dr. Alvarez. “If they do have the disease, they can be put on antibiotics right away, decreasing the risk of a life-threatening infection from pneumococcus, a blood stream infection. In the U.S. we also use transcranial Doppler ultrasound to evaluate a child’s risk for stroke. However, that technology is not currently available in Haiti.”
In 2017, Dr. Alvarez partnered with Haitian physicians at Hôpital Universitaire Justinien in Cap Haitien in a screening study involving 2,100 newborns. The findings from that study, “Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting,” were published recently in Pediatrics. Working with co-authors Tally Hustace, Mimose Voltaire, Alejandro Mantero, Ulrick Liberus, and Rony Saint Fleur in Haiti, Dr. Alvarez found that rapid point-of-care blood screening using the sickle SCAN immunoassay was effective in detecting sickle cell disease in newborns.
Overall, 1.48 percent of the newborns screened in Cap Haitien tested positive for sickle cell disease – a relatively high percentage, said Dr. Alvarez. But thanks to early detection, those infants were able to start penicillin treatments and receive anti-pneumococcal vaccinations soon afterwards. “Sickle SCAN testing had excellent sensitivity to detect this disease during newborn screening, and shortened health care access for positive children,” said Dr. Alvarez.
With the funds from the NIH grant, Dr. Alvarez will be able to provide enhanced screening at the Cap Haitien hospital, and expand the program to Sacre Coeur Hospital in Milot, and St. Damien hospital and the Hôpital de l’Universite d’Haiti (HUEH) in Port-au-Prince.
“We will be able to implement ultrasound imaging to improve the screening process, while gathering a robust dataset of children with sickle cell disease,” said Dr. Alvarez, who will collaborate with four principal investigators in Haiti: Drs. Saint Fleur, Emmeline Lerebours, Emanise Muscadin, and Ronald Eveillard.
Under the new grant, “Comparative Study of Haitian and Miami Cohorts of Haitian-American and Haitian Immigrant Children with Sickle Cell Disease,” Dr. Alvarez will compare the care delivered to children with sickle cell disease in Miami and Haiti, with a cohort of African-American children as a control group.
Dr. Alvarez’s co-investigators at the University of Miami are Jose G. Romano, M.D., professor of clinical neurology, vice chair of clinical affairs, and chief of the Stroke Division; Louis Herns Marcelin, Ph.D., associate professor of anthropology, international studies, and public health sciences; and Eric C. Brown, Ph.D., associate professor of public health sciences.
Robert Adams, M.D., university eminent scholar, professor of neuroscience at the Medical University of South Carolina and director of the South Carolina Center for Economic Excellence in Stroke, is also a co-investigator. He is considered a pioneer in using transcranial Doppler ultrasound to assess stroke risk in children with sickle cell anemia.