Why early screening for sickle cell disease is desirable

HENRY, a nine-year-old boy was diagnosed with sickle-cell disease when almost every other week his mother needed to bring him back to the hospital. Earlier this year, Mrs Adekemi Haruna received news that many Nigerian mothers don’t want to hear. Henry had tested positive for sickle-cell disease. She knew this meant his future might hold bouts of sickness and painful crises because she also had the sickle cell trait.

In Nigeria, about 150,000 babies are born annually with sickle cell disease (SCD), and this figure has been estimated to increase by 100 per cent by the year 2050 without effective and sustainable control strategies. It had been documented that 50 to 90 per cent of children born with SCD die before they turn five due to lack of diagnosis and comprehensive care.

Sickle cell disease is a condition in which the red blood cells in the body are shaped like a sickle. Red blood cells carry oxygen to the rest of the body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood. A person with SCD has red blood cells that are stiff and can block blood flow. This can cause pain, infections and, sometimes, organ damage and strokes.

However, SCD is an inherited blood disorder that is passed from parent to child through genes. There are three common kinds of SCD. These are sickle cell anaemia (also called haemoglobin SS); Haemoglobin SC and Hemoglobin S-beta thalassemia.

But Professor Yinka Falusi, a haematologist and Executive Director, Sickle Cell Hope Alive Foundation speaking at a free point of care genotype testing in recognition of the National Sickle Cell Awareness Month in Ibadan, says there is evidence of benefit from testing to check to see if a baby has SCD or if there are some other causes for abnormal test results.

Basically, newborn screening checks for serious but rare and mostly treatable conditions at birth. It includes blood, hearing and heart screening. The health care provider takes a few drops of blood from the baby’s heel. The blood is collected and dried on a special paper and sent to a laboratory for testing.

Unaffected infants would have mostly fetal haemoglobin (Hgb F) and some adult haemoglobin (Hgb A). A baby testing positive for a form of sickle cell disease would have Hgb F with Hgb S and possibly, another abnormal haemoglobin such as Hgb C, Hgb E or beta-thalassemia.

According to Professor Falusi, newborn screening for SCD allows for early prophylactic treatment, education of parents/guardians and comprehensive management in babies with SCD to ensure that the child’s survival rate is increased and experiences less sickle cell complications.

Some children with SCD may be generally healthy, while others may need special care. But, if those that need special care are left undetected and untreated, SCD can lead to severe health problems and even death, early in childhood.

She added, “when there is newborn screening for SCD, you will know at an age that is below two months, and immediately from that age, pneumococcal vaccine and other vaccines that the child should have will be given. The child will be on some prophylactic treatment for the next five years. This includes taking regular antibiotic medicine to help prevent getting infections between two months and five years of age.

“So, the child will experience fewer infections compared to a child that didn’t know about his haemoglobin status. Once care is started early, from the onset it tends to prevent major organ damages that come with the disease like liver and lungs failing and chest problems. Of course, it  will be less stress for parents because they know what the problem really is.”

Professor Falusi added that with the hindsight of the child’s abnormal haemoglobin gene, the parents would also be more careful with how the health and wellbeing of the child are handled.

“They would not wait for when the child has crisis but ensure that the child goes for regular treatment and check-ups. Sometimes, the child may already be developing anaemia and the mother will not know.  At the hospital, such can be detected early and treated before it gets severe and requires blood transfusion.”

Currently, there is no national neonatal screening policy for diagnosis and management of SCD in Nigeria, most people with SCD are identified and diagnosed when they present at the hospital with the onset of sickle cell complication(s), most often at the teaching hospitals.

Evidence of multiple benefits of universal newborn screening for SCD in high prevalence regions had been demonstrated. In developed countries, universal newborn/early infant diagnosis of SCD had been estimated to reduce mortality in 94 to 99 per cent of children with SCD with most now living to adulthood.

Professor Falusi, therefore, urged the FG’s initiated newborn screening (NBS) programme and creation of six comprehensive treatment centres in each of the six geopolitical zone to be made functional. She stated that implementing newborn screening for sickle cell disease as part of immunisation programmes would ensure early diagnosis and enrolment of affected children into a comprehensive care programme.

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