Sickle Cell Disease Screening

Although known in parts of Africa for hundreds of years by various names, the first medical mention of sickle cell disease (SCD) came in 1910. A Chicago physician named James B. Herrick described a patient from the West Indies with anemia and “sickle shaped” red blood cells.

Knowledge of the disease, a group of inherited blood disorders, grew from there, especially after the passage of the Sickle Cell Anemia Control Act in 1972.

The National Institutes of Health recommended all newborns be screened for sickle cell disease in the late 1980s. It took until 2006 to be mandated in all 50 states and Washington D.C.

Pennsylvania began formal screening for sickle cell disease and other hemoglobin abnormalities in newborns in 1992.

Newborn screening is an important – and potentially life-saving – measure.

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How Do Doctors Diagnose Sickle Cell Disease?

Sickle cell disease is present at birth. Doctors draw blood from the newborn’s heel, collecting it on a special paper. They then analyze the hemoglobin from the blood for abnormalities.

In the cases of a positive test for sickle cell disease or sickle cell trait, doctors contact the family and a retest is done. If sickle cell disease is confirmed, the family will be referred to a treatment center.

If babies test positive for sickle cell disease in Pennsylvania, they are referred to one of three treatment centers, including UPMC Children’s Hospital of Pittsburgh.

“It involves counseling about the meaning of the test, and it involves having staff that can report the results back to the family,” says Dr. Enrico Novelli, MD, a hematologist and oncologist and medical director of the UPMC Adult Sickle Cell Disease Program. “And then it involves anchoring the child to a sickle cell clinic, where they can be followed.”

If parents wish to test their child for sickle cell disease before birth, doctors can do so by analyzing a sample of the amniotic fluid. This can be done as early as eight to 10 weeks into the pregnancy.

Why Is Sickle Cell Screening Important?

Screening for sickle cell disease at birth can save the baby’s life, Dr. Novelli says.

While in utero, fetuses have mostly normal development, and that process continues after birth until around six months of age. That’s when babies start to produce adult hemoglobin and symptoms start to show, with the most common being extreme pain.

“It’s important to remember there’s enormous variability of presentation of this disease,” Dr. Novelli says. “Some kids for a number of reasons may be much less affected than others and perhaps spend the first few years of life without symptoms, whereas others can be seriously affected from the get-go.”

If sickle cell disease isn’t diagnosed at birth, Dr. Novelli says, there is a risk of the baby dying of sepsis, an extreme reaction by the body to an infection.

Sickle Cell Disease Screening Outside the United States

About 100,000 people in America are living with sickle cell disease, but the disease numbers in the millions worldwide.

While all 50 states and Washington D.C. mandate newborn screening, the process is more difficult for some international countries. That’s especially true in lower-income nations like in sub-Saharan Africa or India, where resources aren’t as available, Dr. Novelli says.

That could be changing in future years.

The African Sickle Cell Disease Newborn Screening and Early Intervention Consortium, founded by the American Society of Hematology in 2016, is attempting to help initiate and/or expand newborn screening for sickle cell disease in Sub-Saharan Africa.

According to the ASH-led SCD Coalition, a stakeholder community to improve outcomes for individuals with sickle cell disease, between 50 and 90 percent of children born with sickle cell disease in sub-Saharan Africa or India die before the age of 5.

“The goal of the African SCD Consortium is to phase in newborn screening, to essentially jump-start newborn screening through the creation of a joint protocol to share resources and some funding from the (American Society for Hematology),” Dr. Novelli says. “With the hope that government and health care authorities in each country will then take over newborn screening and hopefully expand it.”

The clinical networks established by consortium-member countries will manage babies with confirmed sickle cell disease and administer treatment in the form of antibiotic and antimalarial prophylaxis, as well as specific immunizations that must be administered early in the baby’s life.

These efforts, implemented on a limited scale, are intended to build a foundation, in terms of public health services and research, that will eventually expand to universal coverage in these countries. The SCD Coalition estimates the global number of people with sickle cell disease to rise 30 percent by 2050.

Sources

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