Kenyan PNH cases highlight long delays in diagnosis, treatment gaps
Seven patients had recurrent anemia severe enough to require transfusions
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Seven people with paroxysmal nocturnal hemoglobinuria (PNH) in Kenya went months to years before receiving a diagnosis, according to a case series highlighting the challenges of recognizing and treating the rare, acquired blood disorder in resource-limited settings.
All seven had recurrent anemia, or a shortage of healthy red blood cells, severe enough to require repeated blood transfusions. Most had lived with symptoms for years before PNH was diagnosed, and one developed a serious blood clot that cut off blood flow to part of his intestine and required surgery. None had access to complement inhibitors, the main treatments for PNH, so treatment was largely supportive.
PNH cases reveal diagnostic and treatment challenges
“This [case] series highlights the presence of PNH in Kenya, diagnostic delay and the need for improved access to definitive testing and therapy in resource-limited environments,” the researchers wrote.
The study, “Haemolytic Anaemia; Beyond Sickle Cell Anaemia: A Case Series of Patients With Paroxysmal Nocturnal Haemoglobinuria in Kenya,” was published in Case Reports in Hematology.
In most cases, PNH is caused by a mutation in the PIGA gene that develops in blood-forming stem cells during a person’s lifetime. The mutation causes blood cells to lack certain surface proteins that normally protect them from the immune system.
As a result, the complement system, a part of the immune system, mistakenly attacks and destroys blood cells, causing PNH symptoms. The destruction of red blood cells, or hemolysis, causes anemia, which can lead to fatigue, heart palpitations, and shortness of breath. PNH can also cause bone marrow failure and increase the risk of dangerous blood clots.
PNH is rarely reported in Africa, with fewer than 50 cases described in the medical literature to date. To raise awareness of the condition and the challenges surrounding its diagnosis and treatment, researchers described the cases of seven people with confirmed PNH in Kenya.
Patients faced years of symptoms before diagnosis
The patients ranged in age from 17 to 38, with a median age of 23, and six were men. All had symptomatic anemia, with symptoms including fatigue, heart palpitations, shortness of breath, and headaches, and all had required multiple blood transfusions.
For most, getting a PNH diagnosis took years. Across all seven patients, the median time from symptom onset to diagnosis was six years, ranging from two months to 10 years.
Signs and symptoms suggestive of hemolysis, or red blood cell destruction, were common. Five patients reported episodes of dark-colored urine, four had jaundice, or yellowing of the skin and whites of the eyes, and two had abdominal pain.
One 38-year-old man developed a blood clot in a vein that drains the intestine. The clot blocked blood flow to part of his bowel, damaging the tissue and requiring surgery. Another patient, a 17-year-old boy, had very severe aplastic anemia, in which the bone marrow does not make enough blood cells. He later received a stem cell transplant from a matched sibling.
PNH was confirmed in all seven patients by flow cytometry, a highly sensitive test that detects blood cells lacking the protective proteins normally attached to their surface. The researchers described all seven as having large PNH clones, and six had clone fractions above 90% in the relevant white blood cell populations.
Limited testing and treatment access shaped care
Access to testing remained a hurdle. The researchers described another woman whose anemia and a blood clot affecting veins in the brain raised suspicion of PNH. Because she could not afford confirmatory testing, she was not included among the seven confirmed cases.
Treatment access was also limited. Complement inhibitors such as Soliris (eculizumab) and Ultomiris (ravulizumab-cwvz) can reduce red blood cell destruction, transfusion needs, and the risk of blood clots, but none of the patients had access to these therapies. Most received supportive care instead, mainly red blood cell transfusions and folic acid.
The researchers said the long delays in diagnosis likely reflect PNH’s rarity, its varied symptoms, and limited access to specialized testing. They also emphasized that while sickle cell disease, a genetic condition that affects red blood cells, is the most common cause of hemolytic anemia in Kenya, PNH and other causes should also be considered when patients have atypical features or respond poorly to standard treatment.
“Our findings highlight that PNH is present in Kenya, often affecting young patients and associated with prolonged diagnostic delay,” the team added. “Increased awareness, improved access to diagnostic testing and strategies to expand availability of definitive therapies are essential to improve outcomes in resource-limited environments.”
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