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Sickle Cell & Newborn Testing

Posted Feb 11 2013 12:00am

To celebrate 50 years of newborn screening in the US, I thought I’d highlight this important health care early diagnosis tool.
In the United States and abroad babies that are born in a hospital are screened before they leave the hospital. For those that were not screened before leaving the hospital, they can be checked at a hospital or clinic within a few days of birth. Only a few drops of blood are needed from the baby’s heel.

Sickle cell disease is one of many conditions that are diagnosed with these few drops of blood.

This is critical for early diagnosis of a baby with sickle cell disease because they are at risk for harmful infections. It is helpful to know about this condition as soon as possible. Once diagnosed, these babies can be given a daily dose of penicillin, an antibiotic medicine, to help prevent infections. Although the penicillin will not change the fact that the baby has sickle cell disease, it can help prevent serious complication problems. In a recent article Dr. Kwaku Ohene-Frempong, 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 talked about The importance of sickle cell screening and disparities between the US and abroad. (December 18, 2012 article by NationalInitiative for Children's Healthcare Quality )

“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.”  
“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.”
“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.“
Thank you Dr. Ohene-Frempong for what you do at NICHQ. The work your doing in Ghana is much appreciated, too.  There is a need to universally (and internationally)  test newborns for no other reason than to get them needed care as soon as possible. Let’s get our babies tested and support their long life of good health. References: Save Our Babies.org

National Initiative for Children’s Healthcare Quality   (NICHQ)

Center forDisease Control (CDC) Newborn Screening  

National Institute of Health Newborn Screening – Genetics Home Reference

Working to Improve Sickle Cell Health Care - (WISCH)



 
 
 
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