by Patricia Inacio PhD | October 12, 2021
People with sickle cell disease (SCD) in Ghana — a country in sub-Saharan Africa, a region with the world’s highest SCD prevalence — often go undiagnosed until age 4 and during a pain crisis, a study into patients in Accra, the country’s capital, reported.
These findings reflect the importance of newborn screening programs, which are lacking in countries throughout the region, its researchers wrote, and indicate that patients there are likely “being excluded from life-saving preventive care.”
Findings were in the study “Diagnosis patterns of sickle cell disease in Ghana: a secondary analysis,” published in the journal BMC Public Health.
SCD comprises a group of inherited blood disorders that can cause severe anemia and pain crises. Across sub-Saharan Africa, the study noted, 50–90% of children die from SCD-related complications before age of 5, and often while still undiagnosed.
Researchers in the U.S., along with colleagues in Ghana, reported the findings of a survey used to determine current diagnostic patterns for SCD in Accra, and whether they differed with patients’ age and disease severity. The survey was conducted at the Korle Bu Teaching Hospital, the third largest hospital in Africa.
Parents of 354 diagnosed SCD patients (median age of 23), nearly all of Ghanaian descent, took part in the survey. More than half (53.5%) of the patients were female, and two-thirds (65.5%) had sickle cell anemia, the most severe and common form of SCD.
Of these patients, only 19 (5.5%) were diagnosed at birth via a newborn screening program, with nearly half (44%) diagnosed by age 4. Most of the patients — 46% — had a pain crisis by that age.
Two-thirds of all patients, about 67%, were diagnosed while having a pain crisis, either at a hospital (49%) or a pediatrician’s office (17%).
When analyzing parents’ responses according to a patient’s age at the time of the survey, researchers found that more children were diagnosed by age 4 than had adults (74% vs. 30%). Younger patients was also more likely to be diagnosed if another child in the family had SCD, compared again with the diagnostic experiences of adult patients (19% vs. 2%).
Adults, however, were more likely to be diagnosed during a pain crisis than were children (70% vs. 55%).
A total of 235 people had severe SCD, and 116 mild disease. Those with severe SCD were diagnosed significantly earlier — by age 4 — compared with those with milder forms of the disease.
“As expected, those with severe disease experienced pain crisis earlier in life (51% by age four years) compared to those with mild disease (36% by age four years),” the researchers wrote.
“Our findings indicate that SCD in this population is diagnosed in acute settings, with pain as a common first presentation of the disease,” they wrote. “Most … participants had not been diagnosed with SCD by four years old based on parent report, reflecting missed opportunities for timely diagnosis, and likely missed preventive care, in early childhood.”
Moreover, “screening in the newborn period was not identified as a major diagnosis modality, even among children born relatively recently,” in clear contrast to “successful” newborn screening campaigns elsewhere in the world.
These findings highlight the need for an early diagnosis of SCD “as a part of a comprehensive, universal approach, starting with diagnosis and complication prevention in the newborn period, and stretching across the lifespan to prevent untimely death,” the researchers concluded.
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