Nearly 20,000 newborns in Uganda are affected by sickle cell disease each year. Across Africa, many children with the inherited blood disorder die before age five because they receive a diagnosis too late. Uganda has expanded mandatory newborn screening nationwide, but gene therapy remains out of reach for most people who need it.
Delayed Diagnosis and Its Cost
Irene Nalukwago’s daughter was born healthy at a hospital in Kayunga, east of Kampala, the capital. At six months, she began falling sick and becoming anaemic. Nalukwago said her daughter needed transfusions almost every week and endured considerable pain before doctors suspected a deeper problem.
Tests confirmed sickle cell disease. Now 12 years old, she has endured repeated attacks from the inherited genetic disorder. “She became paralysed on the left side of her body; I just had to carry her,” Nalukwago said.
Thousands of children have gone years without early diagnosis or proper treatment. Sickle cell disease causes severe pain, and late diagnosis can leave children without timely care. Medical professionals say early diagnosis helps manage the condition before it becomes severe.
Screening and Treatment
Uganda has expanded mandatory newborn screening across the country. At Kayunga Referral Hospital, medical officer Dr Isaac Tumusiime said staff start children on hydroxyurea as early as nine months. The oral prescription medication reduces painful attacks and the need for blood transfusions.
“All our children are started on hydroxyurea as early as nine months,” Tumusiime said. He said the hospital maintains a continuous supply, which supports adherence to treatment, and that most children have managed to survive with this setup.
At the Kayunga clinic, staff advise patients that routine check-ups can help them stay healthy and avoid life-threatening complications such as strokes. Doctors say regular monitoring can catch problems early, ease pressure on stretched health workers and give patients a better chance of longer, healthier lives.
Health workers describe screening and treatment for a condition affecting thousands of children. Care now includes newborn screening, hydroxyurea and routine monitoring. Nalukwago’s daughter’s experience shows the toll repeated attacks can take when diagnosis comes late.
Gene Therapy Remains Out of Reach
Some countries have rolled out gene therapy, which could potentially end years of suffering for many patients. In Uganda, however, it remains beyond the reach of most people who need it, according to the article.
Tumusiime said parents are encouraged to manage their children with hydroxyurea “with a hope that maybe one day gene therapy could be affordable.” For most patients who need it, the treatment remains a possibility, not an accessible option.
The account describes expanded screening and a continuing hydroxyurea supply at Kayunga, alongside the limited reach of gene therapy. It doesn't identify a political decision-maker or institution directing these measures, nor does it describe effects on national sovereignty or population demographics. The documented challenge is access to diagnosis and care for children affected by sickle cell disease.