Coming Full Circle: Sickle Cell Expert Lays Foundation for Progress in Ghana

“You make a new arrow by comparing it to an old one,” is a Ghanaian proverb about lessons learned that seems quite fitting as Kwaku Ohene-Frempong, MD, Director Emeritus of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia, spearheads a transformative project to help Ghana, his homeland on West Africa’s tropical Gulf of Guinea.

Dr. Ohene-Frempong’s son was the first baby diagnosed with the disease by Howard Pearson, MD, in the pioneering newborn screening program at Yale in 1972. As a young fellow in pediatric Hematology-Oncology at CHOP, Dr. Ohene-Frempong worked with Frances Gill, MD, in a research newborn screening project at HUP in 1978. As Director of the Sickle Cell Program at CHOP, Dr. Ohene-Frempong launched a city-wide pilot program for the inherited blood disorder in Philadelphia in collaboration with the Pennsylvania Department of Health. Based on his research, Pennsylvania’s health department began shortly thereafter to conduct newborn screening for sickle cell disease at the state level.

“I realized that we were testing babies at birth and saving lives,” Dr. Ohene-Frempong said. “If we only wait for those who come to the hospital sick to care of them, we would only be treating the tip of the iceberg because many more would have died and never reached us. So while I was in training, one of my goals was to one day be in a position to take what I learned and start a program like that in Ghana, where sickle cell disease is so common.”

Dr. Ohene-Frempong went on to conduct a 15-year research program funded by the National Institutes of Health that established the feasibility of conducting similar screening programs in Kumasi, the second largest city in Ghana. The research project started in December 1992 with a clinic for 10 patients at the Komfo Anokye Teaching Hospital. It now serves more than 10,000 patients with sickle cell disease and has outgrown its capacity.

All of those efforts laid the groundwork for the construction of a new sickle cell center of excellence in Kumasi for treatment and research. The Sickle Cell Foundation of Ghana, which Dr. Ohene-Frempong founded, received $4.5 million from the Ghana National Petroleum Corporation in March to begin the project, which will modernize the care of people with sickle cell disease in Ghana.

“Our need for a place to hold clinic and provide some of the other important tests we do for sickle cell disease has become very great,” Dr. Ohene-Frempong said. “A center like this will help us develop better treatment models for all the other hospitals and clinics in the country to learn from. It is a big responsibility, and I am happy we have the opportunity to embark upon it.”

Early Diagnosis Crucial

Eighty percent of children who have sickle cell disease are born in Sub-Saharan Africa, Dr. Ohene-Frempong said. Yet, approximately 5 percent of the world’s population carries trait genes for hemoglobin disorders including sickle cell disease, according to the World Health Organization. Sickle cell disease results when red blood cells make mostly hemoglobin S, which can turn the cells into hard and sticky pointed shapes like crescents or sickles that can damage blood vessels, instead of the normal hemoglobin A, which allows the cells to be smooth, round, and soft so they can move easily through blood vessels.

Fifty to 90 percent of children with sickle cell disease in Africa die before age 5, often after a short illness with a fever caused by a bacterial infection. In many cases, these children are undiagnosed because they are not yet showing the signs commonly associated with sickle cell disease, such as chronic anemia, fatigue, and periodic episodes of pain. Physicians often jump to the wrong conclusion that malaria is to blame for the child’s death. Early diagnosis through newborn screening and prompt treatment with penicillin prophylaxis can help prevent these life-threatening infections, giving children with sickle cell disease a better chance of survival, Dr. Ohene-Frempong said.

“In the U.S., we have done research to show that if we diagnose sickle cell disease at birth, or soon after birth, and give young children preventative treatment from about 2, 3 months of age, we are able to reduce quite remarkably the leading cause of death related to sickle cell disease, which is infection from bacteria,” Dr. Ohene-Frempong said. “So it is important to find these babies.”

Dr. Ohene-Frempong has been an advocate for the establishment of a national newborn screening program for sickle cell disease in Ghana, but its expansion to districts beyond Kumasi has been slow due to lack of government funding. Currently, only about 35,000 babies are screened each year in Ghana, but ideally that number should be closer to 800,000, Dr. Ohene-Frempong said. He anticipates that building the new sickle cell center of excellence will help to build national awareness of how deadly the disease can be at a young age and promote newborn screening efforts and early disease management.

Increasing Awareness of Sickle Cell Disease Inheritance

In addition to providing much needed medical services for people with sickle cell disease and space for researchers looking to discover better treatments, the center will be a training center where physicians, nurses, social workers and others from hospitals in Ghana and beyond can learn about modern treatment models and genetic counseling approaches. Dr. Ohene-Frempong anticipates that CHOP will have strong participation in the center by sending clinicians to share their expertise.

Lack of knowledge about how sickle cell disease is inherited is pervasive in Africa, Dr. Ohene-Frempong said, even though it is so common. In an article published in the Journal of Community Genetics, Dr. Ohene-Frempong and other sickle cell experts described how they used qualitative research methods to understand community issues and potential challenges to the development and implementation of a sickle cell counselor training and certification program that the Sickle Cell Foundation of Ghana launched in 2015. The goal of the program is to train physicians, nurses, health educators, and eventually lay counselors, such as teachers, to provide their communities with correct information so that people can understand the implications of sickle cell disease, encourage them to know their sickle cell disease status, and make informed healthcare and reproductive planning decisions.

Sickle cell disease results from the inheritance of the sickle cell gene from both parents, or the sickle gene from one parent and another abnormal hemoglobin gene that contributes to the pathological effect of the sickle gene. Asymptomatic sickle cell trait, which Dr. Ohene-Frempong carries, results from the inheritance of the sickle gene from one parent and the normal version from the other. Most people who are at risk of having a child with sickle cell disease don’t know that they are carriers because they are healthy, and Ghana does not require people to be tested for sickle cell disease or sickle cell trait before marriage.

Special Recognition for Lifetime Achievements

Dr. Ohene-Frempong realized that he is a carrier of sickle cell trait when he underwent medical testing to compete in track and field for Ghana in the 1968 Olympics in Mexico City, which he declined to participate in because the games would interfere with his studies at Yale. He had received a special scholarship to attend college in the U.S., and his goal was to become a doctor, which gave him the opportunity to give back to his country in myriad ways.

While he didn’t receive an Olympic medal, Dr. Ohene-Frempong received one of Ghana’s most prestigious honors and is considered a national hero. In recognition of his leadership, inspiration, and profound commitment to improving sickle cell disease diagnosis and treatments in the U.S. and abroad for more than three decades, Dr. Ohene-Frempong received a Millennium Excellence Award at a ceremony in December 2015.

“I was completely surprised, and it was a pleasant recognition not only of my work in sickle cell disease, but for the work my colleagues in Ghana have been able to accomplish,” Dr. Ohene-Frempong said. “I am only a catalyst for much of that activity, since I’m only a visitor from time to time, but there are many others who continue to work hard.”

Innovative Approaches, Future Research

In July, Dr. Ohene-Frempong, who also is an attending hematologist at CHOP and professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania, returned to Ghana for the 6th International African Symposium on Sickle Cell Disease organized by the Comprehensive Sickle Cell Center at CHOP. Healthcare workers, public health officials, laboratory technologists, community-based organizations, and support groups for patients and families convened to discuss genetic counseling strategies and psychosocial interventions in Africa.

As the symposium and news of the center of excellence builds momentum for sickle cell disease strategies in Africa, Dr. Ohene-Frempong is equally enthusiastic about research efforts underway at CHOP, including gene therapy. While sickle cell disease is complex, its cause at the genetic level is a relatively simple gene mutation. It’s like misspelling a word, he explained, and the same letter is misspelled for everyone in the world who has sickle cell disease.

“The ultimate gene therapy will fix that error by changing the one letter,” Dr. Ohene-Frempong said. “The current gene therapy trials are introducing the normal version of the gene into the abnormal version. We think this will create cells that have the corrected gene in them.”

One of the researchers working on new gene therapy approaches is Stefano Rivella, PhD, who is the first person to hold the Kwame Ohene-Frempong Endowed Chair in Pediatric Hematology, which was established in 2015 in honor of Dr. Ohene-Frempong’s son.

In addition to gene therapy, other innovative approaches under investigation at CHOP to treat sickle cell disease include a way to transplant healthy stem cells from the mother’s bone marrow to the child during early pregnancy. Alan Flake, MD, an attending surgeon in the Division of Pediatric General, Thoracic and Fetal Surgery and director of CHOP’s Center for Fetal Research, is developing the procedure.

“The future is almost here for sickle cell disease,” Dr. Ohene-Frempong said. “It is very exciting.”

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