Rarer than rare: Glanzmann thrombasthenia in Nigeria
On Rare Disease Day 2025, we share the story of an inspirational young woman from Nigeria with Glanzmann thrombasthenia
Glanzmann thrombasthenia is one of the rarest of the rare bleeding disorders, affecting around 2 in a million people. We recently published the results of our GT360 study, in which we heard from 120 men, women and parents of children about their experience of living with Glanzmann thrombasthenia [1,2]. But it was only after the study closed that we heard from a person with Glanzmann’s who is very rare indeed.
Sherah Chiazom Ogobuchi-Odo is 22, comes from Nigeria, and is a student of Medical Laboratory Sciences. When she’s at home, she is a patient at the haemophilia clinic at the University of Nigeria Teaching Hospital, Enugu (UNTH). She was interested to hear about our study and told us:
“I’m the only one with Glanzmann’s in the clinic – most of the people there are men with haemophilia.”
Under the radar
Sherah is currently treated at the Hemophilia Society of Georgia Center for Bleeding Disorders Emory in the United States (US). She knows that other people with Glanzmann thrombasthenia are treated there too. But in Nigeria, she isn’t just the only person in her clinic with Glanzmann’s – she’s the only person in Nigeria with a Glanzmann’s diagnosis.
The number of people living with a rare bleeding disorder worldwide isn’t known. Although the most recent World Federation of Haemophilia (WFH) survey estimates there are nearly 831,000 with haemophilia worldwide [3], the actual figure could be over a million [4]. Nigeria has a population of around 224 million people, and the WFH estimates there should be more than 94,000 with haemophilia – but there are only 743 diagnosed cases.
The survey also reports 15 people diagnosed with von Willebrand disease in Nigeria. For other bleeding disorders, including Glanzmann thrombasthenia, there is no information.
Put simply, limited resources mean that many people in Nigeria who live with a bleeding disorder are not diagnosed and/or do not have access to treatment.
So, what about Sherah?
Definitive diagnosis
As a child, Sherah experienced nosebleeds and gum bleeds, often had petechiae (small purple, red or brown spots on the skin), and her parents would sometimes take her to hospital for treatment following accidents at school.
“They didn’t really think much of it,” says Sherah. “But when I started menstruating…”
With the onset of her periods, Sherah’s symptoms became unmanageable.
“The first one was ok. The second one, I bled for a month and a half,” she explains. “My mum, she said when she was growing up she had heavy menstrual bleeding… I think my parents are both carriers of the disease. That’s what my doctor thinks.”
Glanzmann thrombasthenia is inherited when both parents have a copy of the faulty gene that causes it. But despite both her symptoms and indications in her family history, it wasn’t possible for Sherah to get a definitive diagnosis of Glanzmann thrombasthenia in Nigeria.
Sherah’s uncle is a doctor and is based in the United States (US). Concerned for his niece, he managed to arrange a referral to the Children’s Healthcare of Atlanta. She was then formally diagnosed with Glanzmann’s in 2015, and prescribed a hormonal contraceptive to help control her heavy periods.
“It made it better because I didn’t have to bleed profusely during my menses,” she says. “I don’t have any serious menstrual bleeding now. I take iron supplements because I’m anaemic from time to time, so I always take iron supplements, and vitamin D. Other than that, I’ve been OK generally, health-wise.”
Sherah continues: “I’ve been able to do schoolwork and some other recreational activities. I’ve been fine for eight years now, without any major crises.”
Living with Glanzmann’s
A definitive diagnosis and access to a treatment that stops her bleeding so heavily during her periods been essential to Sherah being able to live well. However, her Glanzmann’s continues to have an impact.
“Most of the time I have the petechiae spots, but I try to cover up those places so I don’t get questions like, ‘What’s that on your body?’” she explains. “Sometimes I have gum bleeds and people notice it, and I don’t know how to explain it – so I try to talk around what it is. If they are people like me, like in the medical field, I can explain what it is. But others, I just tell them I injured myself.”
Though still studying, Sherah is currently living with relatives in the US, where treatment and care is much more accessible. She may want to have children, and her family are concerned that managing the risks associated with pregnancy and childbirth in women with Glanzmann’s wouldn’t be possible in Nigeria.
These ongoing impacts of Glanzmann’s have made her keen to find out more about potential new treatments.
“There is a treatment that is still on trial, clinical trial, so I volunteered to be part of it,” she says.
Research and awareness
In the meantime, Sherah is keen to live life as well as she can. She loves reading and spending time with her family and friends. Her experiences have also prompted a deep interest in medicine and aspirations to make life better for others affected by Glanzmann’s.
“I’m passionate about health,” says Sherah. “People who have issues like me, rare diseases, are often passionate about volunteering.”
“I’m hoping if I’m able to stay in the United States for longer I can study medicine,” she continues. “I want to study to do research work on finding a permanent solution [for Glanzmann’s], go back to Nigeria – especially to the hospital that’s been treating me all these years – and help.”
Sherah’s goals centre on improving access to diagnosis treatment for Glanzmann’s, and raising awareness:
“I want to help find other men and women who have Glanzmann’s, because I’m sure they do, and maybe make tests available for them in Nigeria. So, starting diagnosis and treatment in Africa. I hope we can finally have treatment for bleeds and awareness, that there is an awareness of sickle cell disease and an awareness of Glanzmann’s.”
With our thanks to Sherah for being so generous in sharing her story with us.
References
1. Khair K, Fletcher S, Boyton M, Holland M. Bleeding and quality of life in people with Glanzmann thrombasthenia – insights from the Glanzmann’s 360 study. Res Pract Thromb Haemost 2024; 8(7): 102586. doi: 10.1016/j.rpth.2024.102586.
2. Khair K, Fletcher S, Jenner K, Holland M. One day at a time: Life with Glanzmann thrombasthenia – Qualitative results from the GT 360 study. Haemophilia 2024; 30(6): 1373-1382. doi: 10.1111/hae.15126.
3. World Federation of Hemophilia. Report on the Annual Global Survey 2022. October 2023. Available from https://wfh.org/research-and-data-collection/annual-global-survey/#reports.
4. Iorio A, Stonebraker JS, Chambost H, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med 2019; 171(8): 540-546. doi:10.7326/M19-1208.
About the author
Kathryn Jenner is Communications and Community Manager at Haemnet Ltd.
