Q&A with Dr. Kwaku Ohene-Frempong: The Importance of Sickle Cell Screening and Disparities between the US and Abroad

Dr. Ohene-Frempong is the Director Emeritus of the Comprehensive Sickle Cell Center at Children’s Hospital of Philadelphia, President of the Sickle Cell Foundation of Ghana, and a NICHQ faculty member.

December 18, 2012

Dr. Kwaku Ohene-Frempong
Dr. Kwaku Ohene-Frempong
Sickle cell disease (SCD) affects millions of people worldwide. The devastating genetic disorder morphs a person’s blood cells and causes intense pain and early mortality. While there is no universally-applicable cure for the disease, early and frequent intervention may help patients have an improved quality of life and longer survival. But despite the frequency and severity of the disorder, there are still many gaps in treating SCD.

Kwaku Ohene-Frempong, a pediatric hematologist at Children’s Hospital of Philadelphia, has been working to improve the care of people with SCD, both in the United States, as a faculty chair to NICHQ’s Working to Improve Sickle Cell Healthcare (WISCH) program, and abroad, as a founder and president of the Sickle Cell Foundation of Ghana.

Ohene-Frempong recently talked with NICHQ Communications Specialist Kristina Grifantini about the progress and remaining gaps in screening, and shared his global perspective on the disease.

Why is screening for sickle cell disease important and what is the current state of screening?
In the United States, SCD testing is now largely part of existing newborn screening programs, so babies who have SCD are referred to appropriate medical resources. Previously, the first three years of life used to have the highest mortality in SCD. Now in the United States, we don’t see many deaths in the first three years, which is a real triumph for newborn screening and the care that follows. However, there is still a lot of work to be done in parent education and carrier screening, both in the United States and abroad. It is especially important in African countries where SCD occurs far more frequently but medical care is far less available.

How did you get started working in SCD?
I’m from Ghana and I came to the United States for college. While at Yale University, I ran track and was selected to represent Ghana in the 1968 Olympics in Mexico City. Because Mexico City is at a high altitude, there was concern that athletes who carried the sickle cell trait might experience problems such as splenic infarction (where the spleen becomes oxygen starved) in the lower oxygen environment. It was advised that all athletes be tested. That’s when I found out I was a carrier for the disorder. I didn’t know anything about the disease at the time.

A few years later, while I was in medical school at Yale, my son was born. He was diagnosed with having SCD two days after birth. At the time, Dr. Howard Pearson at Yale was the first hematologist in the United States performing newborn screening for SCD; we just happened to be at the right place with the right doctor. Pearson enrolled him in a new program at Yale that put infants with SCD on penicillin prophylaxis to help prevent life-threatening infections. This was 15 years before penicillin prophylaxis was recommended for young children with sickle cell disease and became the justification for newborn screening for the disease.

For my medical school thesis, I studied in the city of Kumasi, the second largest in Ghana, and discovered that most children born with SCD there probably die undiagnosed. My mother, knowing then that my son had SCD, advised me to become a doctor for children with SCD. Incidentally, Kumasi is the city chosen by the Ministry of Health for my collaborators and me to develop the pilot newborn screening project that is now being scaled up into a national program.

At this point, I’ve worked for decades in helping families to manage SCD, as well as to develop and improve newborn screening programs both in the United States through WISCH and in Africa.

What are the obstacles that remain in improving screening in the United States?
Diagnosing a baby with SCD is easy in the laboratory. The systems for testing babies before they get discharged from birth institutions have been pretty well-established; close to 100 percent of babies get screened. Some of the problems we have are with children who are born elsewhere and move into the country at the age when they need to be on medication but haven’t been screened. Immigrants from West Africa, where the SCD gene is much more common than the United States, are a high-risk group that needs to be targeted for screening and counseling services. Part of the WISCH program is addressing those issues in some of the cities with large immigrant populations.

Another aspect of the screening program is teaching parents to recognize signs of the disease that may be life-threatening and to which they need to react appropriately. This remains a large challenge because we have to teach parents that, though a child with SCD might look generally healthy, it is important to respond quickly to even slight illness. This is a difficult concept for many people to grasp.

Finally, another big obstacle we face is how to advise parents who have healthy children, yet are carriers of the SCD gene or other genes that are related to SCD. This has become a bigger challenge than what to do for those with the disease, where the expertise and knowledge is very clear. The fact that many healthy people carry abnormal genes that they can pass on to their children is not an easy concept to grasp. Many of the WISCH teams are working on this.

Why is it important to follow-up with babies who are carriers of one of the sickle cell genes if they don’t need treatment?
When a baby tests positive for being a carrier of SCD, the baby may not need any medical care but the parents could have another child who inherits SCD. If both parents are carriers of the sickle cell gene or one carries that gene and the other carries a related abnormal gene, they can have a baby with a type of SCD. You need to let the parents know so they can be tested and counseled on the risk of having subsequent babies who may have SCD.

On paper it sounds like a reasonable thing to do. In practice, however, it’s a challenge to implement because health systems make it very difficult to use a baby’s results to get families tested and counseled for a genetic disorder. If for every child that screens positive for sickle cell disease you find 40 who are carriers, getting all of those families education, counseling and testing goes beyond the budget of most newborn screening programs. The healthcare reimbursement systems we have don’t often cover those kinds of interventions. It remains a challenge and many of the WISCH grantees are trying to find the best ways to do it.

How does United States progress in sickle cell screening and treatment affect other countries?
Newborn screening as a public health activity originated in the United States in the 50s and 60s, so no country has as much experience in general newborn screening and knowledge about SCD management. But the complex U.S. healthcare system makes it difficult to implement programs on a national basis. If you look at countries like France or Brazil, which have a national healthcare system, they’re able to implement programs that were developed in the United States, sometimes more effectively. France, the UK, Italy, Greece and Belgium have excellent sickle cell clinics in cities with large populations of Africans.

You mentioned that Africa has the most number of SCD cases of any region. What are some of the main differences you see in care and screening there?
It’s a completely different public health problem in Africa. The World Health Organization estimated that in West Africa, SCD contributes somewhere between 9 to 16 percent of deaths for children under the age of five. It’s a major public health problem, but currently no country in Africa has nationwide newborn screening. The exception is Ghana, which has recently begun to expand a pilot newborn screening project into a national program within the public health service. There are small pilot screening projects in some countries such as Benin, Senegal, Mali, Angola, Tanzania and others.

Together with a network of other sickle cell disease health professionals in Africa, we are working to convince the governments of the importance of public screening. I hope in the next five to 10 years those pilot projects will grow to become national programs.

Why the lag? What are some obstacles that have to be overcome?
The obstacles are limited resources, services, and infrastructure. Almost all of these countries in Africa have no newborn screening infrastructure. In the United States, there was already newborn screening going on when SCD was added. Since the screening systems were already developed, hospitals just needed to add a few more drops of blood on the filter paper and train the screening laboratories to add testing for abnormal hemoglobin. But in Africa, national newborn screening programs do not exist for any diseases so it requires introducing a completely new public health service, which takes a lot more capacity-building both in technology and in human resources.

What are the plans for continuing to improve SCD treatment?
Ideally we’d be able to move to a cure: we know what is wrong with the genes and how they could be corrected if we ever get a practical way of repairing genes. But it’s not likely that that kind of therapy will be available for patients for a long time unless a big breakthrough occurs.

More immediately, we have made some important strides with treatments like hydroxyurea and blood transfusions so I feel that we should try to consolidate these therapies to make them more readily available for patients. In Africa, for instance, hydroxyurea is not yet available, even though it’s not a very expensive drug by developed country standards. I’m currently working with two companies, one in France and the other in Ghana, that have collaborated to produce hydroxyurea in Ghana. I’d like to see this treatment become available to most SCD patients in Africa in the next five to 10 years.

Regarding WISCH, I am interested in making the lessons learned from the project teams more sustainable. For example, many of our teams have made strides in improving overall care coordination, transitioning of young adult patients into adult care, emergency department procedures for sickle cell patients, and in outreach. We need to find a way to take the best practices and implement them on a national basis. If we can take what we learn from the grantees to teach other states, programs, and treatment centers, we can help the country move forward to implement the best practices in patient care and newborn screening.