By Steven Enatu
SOROTI
In a tragic turn of events, a 9-year-old boy was laid to rest in Amuria last week after succumbing to sickle cell disease complications exacerbated by a shortage of hydroxyurea medication and blood. This devastating loss highlights the dire circumstances faced by families battling this genetic blood disorder in the Teso region of Uganda.
The young boy, a sickle cell patient, urgently sought treatment at the local sickle cell clinic on March 15, 2024, but tragically, the necessary hydroxyurea medication and blood were unavailable due to a two-month-long shortage affecting all seven facilities managing sickle cell patients in Teso.
Hydroxyurea is a vital medication that boosts hemoglobin levels, enabling sickle cell patients to lead better lives with fewer complications. Yet, in a tragic twist, Amuria—like six other health facilities across Teso—had been grappling with a debilitating shortage of hydroxyurea for the past two months. This tablet, crucial for boosting hemoglobin and alleviating complications for sickle cell patients, was alarmingly absent when Joseph needed it most.
Sheila Nduhukire, the principal spokesperson for the National Medical Stores, emphasized that while the organization distributes medicines as per government health facility orders, supply shortages are often tied to budget constraints beyond their control. Despite having hydroxyurea in stock since the 2023/2024 financial year, demand has outstripped supply due to limited budgets allocated for essential medicines.
“We distribute medicines as ordered by health facilities,” she explained. “However, constraints like budgetary limits dictate the quantities we can supply,” said Nduhukire.
The gravity of the situation is further compounded by the establishment of sickle cell clinics in Teso, including at Amuria Hospital, which was inaugurated just a year and a half ago to address the region’s growing sickle cell population of 403 cases.
Sister Safia Ibiara, a focal point for sickle cell patients in Amuria, spoke poignantly about the community’s ongoing struggle with stigma and misinformation surrounding the disease.
“We have a lot of problems here. Some parents have lost hope; they watch their children deteriorate at home, and in tragic cases, resort to desperate measures,” Sister Safia lamented, recounting a heartbreaking incident where a parent resorted to fatal measures due to despair.
Ibiara’s call for urgent intervention echoed through the grief-stricken community. “We need drug stocking for our clinic and a functional blood bank nearby,” she implored. “These children deserve a chance to thrive, to learn, to contribute.”
The prevalence of sickle cell disease in Teso underscores the urgent need for targeted interventions. Dr. Charles Akiya Oyoo, Commissioner of Health Services for Non-Communicable Diseases at the Ministry of Health, highlighted the region’s disproportionate burden. “Teso alone accounts for 21% of sickle cell cases nationwide,” he revealed.
As the region grapples with this health crisis, Sister Safia urges urgent intervention, calling for sustained drug supply to sickle cell clinics and the establishment of fully functional blood banks to support patients in need. She underscores the urgent need for community support and education to combat stigma and ensure timely access to life-saving treatments.
Sickle Cell Disease Burden in Teso
Teso Sub Region, comprising 10 districts and 1 city, is witnessing a concerning increase in sickle cell disease cases, contributing 21% to the national sickle cell burden, which is currently at 13.3%. This substantial figure highlights the significant impact of sickle cell disease within Teso, with data from five sites revealing 2,445 affected individuals, primarily teenagers. Notably, access to statistics from Katakwi and Kumi remains limited.
Dr. Charles Akiya Oyoo, Commissioner of Health Services for Non-Communicable Diseases at the Ministry of Health, reports that 0.7% of Uganda’s population lives with sickle cell disease, equating to 7 individuals per thousand. Additionally, the prevalence of the sickle cell trait, indicative of carriers of the sickle cell gene, stands at 13.3%.
Northern Uganda leads in prevalence at 25%, with the Eastern region, including Teso, at 21%. Other regions significantly affected include Busoga, central Uganda, and specific districts in the west such as Bundibujo and Ntoroko, identified as disease hotspots.
Dr. Oyoo underscores that high prevalence occurs in regions with endemic malaria. He explains that individuals carrying the sickle cell gene exhibit increased resistance to malaria, a mechanism akin to natural selection.
The prevalence of sickle cell disease is accentuated in areas with high malaria rates, driven by genetic mutations developed as an adaptation to malaria exposure.
Healthcare professionals assert that the disease’s prevalence in the region results from high sickle cell trait frequencies due to intermarriages without prior screening, culminating in sickle cell disease in offspring.
This scenario underlines the importance of premarital testing for sickle cell trait to prevent the birth of children with sickle cell disease.
Data from Soroti Regional Referral Hospital indicates that 826 patients, primarily children under 10 years old, seek weekly treatment at a makeshift clinic near the hospital.
Dr. Lydia Namono, a medical officer at the hospital, notes that most attendees at the sickle cell clinic are mothers due to prevailing stigma, with fathers seldom present.
Teso Sub Region has six designated sites for sickle cell patient management, including Katakwi General Hospital, Atutur Hospital, Kaberamaido, Serere, Amuria, and a community clinic at Ngora Health Center IV.
Patients receive daily treatments similar to those for HIV/AIDS, including fansidar to prevent malaria attacks, folic acid to support blood formation, hydroxyurea for hemoglobin regulation, and antibiotics to combat infections.
In Kaberamaido General Hospital, a weekly clinic manages 116 sickle cell patients, predominantly children aged 0 to 10 years.
Dr. Eunice Aboyo, a medical officer at Kaberamaido Hospital, emphasizes the critical need for hydroxyurea, which has experienced frequent stockouts.
In Serere, 300 sickle cell patients receive treatment and refills every Monday, addressing complications and referring severe cases to Soroti Regional Referral Hospital. Amurai Hospital manages around 400 sickle cell cases at its Thursday clinic.
The Importance of Pre-Marital Testing for Sickle Cell Prevention
In a recent sickle cell screening exercise conducted at a school in Soroti city, out of 1000 students tested, nearly 200 were positive for sickle cell trait based on the solubility test.
Dr. Namono stressed the critical need for pre-marital or sexual relationship screening for sickle cell trait. However, in Kaberamaido over the last two years, only two spouses underwent testing for sickle cell status.
“Many people focus solely on physical appearance without considering their genetic makeup and DNA, highlighting a lack of awareness within the community,” noted medical experts.
Dr. Aboyo urged parents, especially those with children suffering from sickle cell, to educate their children about the disease. She emphasized that effective disease management is possible with economic empowerment and self-care.
Dr. Aboyo believes that sickle cell can be prevented if individuals with the disease marry partners without sickle cell traits. “No person with sickle cell should marry another sickler or an unknown status partner,” she advised.
Medical professionals also advised young people to prioritize education and avoid early sexual activity, which can lead to teenage pregnancy.
The UN Sustainable Development Goals recognize non-communicable diseases, including sickle cell disease, as significant public health concerns due to their potential for serious morbidity, reduced quality of life, and early mortality.
Despite calls from influential figures to document the natural history and mortality associated with sickle cell disease in Uganda, the condition remains neglected, with limited reliable data and insufficient political will to address the issue.
Dr. Florence Olwedo Egwau Alaroker, senior consultant pediatrician at Soroti Regional Referral Hospital affiliated with Mbale Medical Research Center, mentioned ongoing research on drugs that can alleviate sickle cell disease.
“We are closely monitoring patients using Hydroxyurea, now widely used across the country. Other researchers are analyzing blood samples from newborns and young children in central public laboratories to map areas with high disease burdens,” Dr. Alaroker explained.
Despite treatment challenges, recent groundbreaking advancements, such as gene-editing therapies approved by Britain’s drug regulator, offer hope for lifelong blood disorder management.
Dr. Alaroker highlighted that similar research efforts are underway in developed countries like India, with the Joint Clinical Research Center also contributing to this field.
Against this backdrop, Joseph’s story emerges as a stark reminder of the systemic challenges plaguing efforts to combat sickle cell disease in Uganda. Despite promising strides, including recent additions of vital medications to essential lists, critical gaps persist.
In the face of such adversity, the collective mourning for Joseph takes on added significance—a call to action for sustained commitment and targeted resources to ensure that no more lives are lost to the ravages of sickle cell disease.
What is sickle cell?
It’s a genetic blood disorder disease that affects the red blood cells. It attacks the molecules found in red blood cells called Hemoglobin.
Therefore children suffering from sickle cell are born with a defect in their hemoglobin contributed by both parents.
This means that a parent can have an abnormal gene in their hemoglobin like a mother and a father also have an abnormal gene in hemoglobin. Having an abnormal hemoglobin means you become a carrier.
If the two meet and marry, 25% out of every pregnancy they are going to have, there will be 25% chances of producing a child with sickle cell.
A carrier of sickle cell does not show signs and symptoms of sickle cell while a sickler shows signs and symptoms.
Dr. Namono says that a sickler starts presenting with signs of sickle cell anemia. This affects the red blood cells which helps in moving oxygen around the body.
With exposure to illness and infections or exposure to places where oxygen is not enough, the red blood cell that is supposed to be round, sickles or creates a moon shape and affects mobility in the blood vessels. After this, they start clamping together and partially blocking the blood vessels in the body.
She narrates that this interferes with the movement of blood that transport oxygen reaching different organs like lungs, the child starts presenting with chest pain and if it blocks the blood from going to the brain, the child presents with a stroke.
The one that kills most Is that that affects the lungs which Dr. Namono says is common is the region as many are admitted with acute chest syndrome.
Because the red blood cells die faster instead of lasting 120 days before being destroyed, the children end up with chronic anemia and end up receiving blood in a year more than five times.
As their born marrow that is In charge of blood cell formation gets overworked, the children with sickle cells present with elongated head, protruded teeth. This is because the bone marrow gets enlarged.
