Latest news with #sicklecell
BBC News
3 days ago
- General
- BBC News
Blood donation: Rare blood donors wanted to help sickle cell patients
"I wouldn't say it's quite like a superpower but I do think it's amazing that something that you just happened to be born with can help so many people."Speaking inside the busiest blood donation centre in Europe, Julia Gryn, from Thornton Heath in south London, has popped into donate after 27-year-old is just one of about 100 donors on the NHS Blood and Transplant's (NHSBT) Rare Donor Panel. Out of about 800,000 blood donors, those on the panel make up just 0.01%.Speaking at London's West End Donor Centre on Margaret Street, she said: "I think it's really, really amazing that I can actually help someone with a genetic disorder." She added: "It's crazy to think that a single blood donation can help to save up to three lives." Julia's blood is rare because she lacks several of the most common antigens across multiple blood group the 350 known antigens, her unique combination does not include the K, M, S, Fya and Jkb, all of which are frequently found in the general blood type is especially important for those with sickle cell, a genetic blood disorder whereby patients develop antibodies against several blood types making it harder to find matching blood. Julia, who has donated blood since she was a teenager, was invited to join the Rare Donor Panel in May 2020, early in the Covid pandemic. "At the time, I thought my blood was completely ordinary," she joining the panel, she said it felt different from her regular donations."It feels much more personal. I'm told when a specific patient needs a closely matched donation, and I book in around that. Knowing there's someone waiting who needs exactly what I can give makes the experience feel more direct and meaningful."She added: "During my first donation, one of the team members told me that in their seven years working there, I was the first rare blood donor they'd encountered. That really stuck with me."Blood donation is an amazing thing - most people can do it, and it makes such a big difference." Dr Chiara Vendramin, speciality doctor in donor medicine for the panel said donors like Julia were difficult to find."Julia is a very special donor. She has been amazing through the several years that she has been donating."Rare donors are very important and they play a crucial role in our organisation because they allow us to meet the really complex blood requirements that we have for specific patients."Most of the blood of these blood requirements are for those with sickle cell disease."As for Julia, what would her message be to those worried about donating?"I would say it's honestly not as scary as some people think."I do get some of my co-workers and friends asking 'how does it go, is the needle really big?' Honestly, you don't even pay attention to it, it goes so quickly."Everyone is always so kind and I would say it's a small thing that you can really do to help and save lives."
CBS News
26-05-2025
- Health
- CBS News
New Jersey teen pain-free thanks to new sickle cell disease treatment
For the first time in his life, a young New Jersey man is pain-free thanks to a new gene treatment working to cure patients of sickle cell disease. Gerald Quartey, 18, is the first patient in the Garden State to be treated with the groundbreaking Lyfgenia treatment outside of a clinical trial and following FDA approval in 2023 for patients 12 and older. "Most of the time, I would just be inside because I was in pain" All his life, Quartey has suffered from the debilitating side effects of the rare and life-threatening inherited blood disorder. He needed frequent medical care and couldn't play sports. Even the cold triggered painful episodes. "It was really rough. I missed a lot school, a lot of things that just, like, normal kids would be doing," he said. "Most of the time, I would just be inside because I was in pain." It's also been incredibly painful for his mother, Evelyn Quartey, who lost her oldest son, Emmanuel, to sickle cell when he was 7. "It's been rough," she said. "And there was no treatment at that time." "We are essentially curing patients of their disease" Gerald Quartey was treated by Dr. Stacey Rifkin-Zenenberg at Hackensack Meridian Joseph M. Sanzari Children's Hospital. "The gene therapy treatment is a treatment where we are essentially curing patients of their disease," she said. She explains doctors collect a patient's blood stem cells, which are then genetically modified in a lab. The patient undergoes intense chemotherapy before the modified cells are infused back in the body to produce new, healthy red blood cells. "Just to endure just a few weeks of pain for a lifetime free of pain is, it's definitely worth it," Gerald Quartey said. Gerald completed his treatment at the hospital, ringing a bell and celebrating with the medical staff. "It just felt really great to know that that chapter of my life is over," he said. "So happy and so thankful that he's sickle cell-free," Evelyn Quartey said. Now pain-free, Gerald plans to head to Penn State to study nursing and psychiatry, hoping to help others, inspired by those who helped him.
WebMD
23-05-2025
- Health
- WebMD
Insecurities That Can Develop in a Long-Term Relationship When You Have Sickle Cell
Living with sickle cell disease presents many challenges – chronic pain, hospital visits, fatigue, and flare-ups – that can sometimes cause you to take a step back in life. The emotional and physical toll of sickle cell is immense and pervasive. A crisis can set you back for days, weeks, or even months, depending on how serious it is, and the weight of this uncertainty can sometimes feel overwhelming. It's a struggle not only for the person with sickle cell but also for those who love and care for them. I've recently spent some time reflecting on how sickle cell impacts long-term romantic relationships. I've often wondered what I've learned from past relationships and what emotional setbacks I've had to overcome, particularly the insecurities that arise when you live with a chronic condition like this. The Beginning of a Relationship: The Decision to Be Open Before entering the realm of long-term relationships, there's the question of when to share your sickle cell diagnosis with a romantic interest. It's one of the first conversations I have with potential partners. I've learned that this early honesty can make or break a relationship right from the start. When you live with sickle cell, it's important to decide whether the relationship is worth pursuing before feelings become too deep, as this condition can significantly affect the dynamics of the relationship. Some might shy away from discussing their condition early on, out of fear of rejection or judgment. Still, for me, it has always been about honesty. It allows the other person to decide whether they can handle what sickle cell brings to the table. At the same time, it's important to acknowledge that while sickle cell is a part of who I am, it doesn't define me. The ability of a partner to look beyond the illness and see me for who I am – someone with hopes, dreams, and desires – becomes a cornerstone of any relationship. The Early Stages: The Pressure to Be 'Normal' As relationships progress, so do the usual steps: spending time together, learning more about each other, and deciding to make things official. As someone living with sickle cell, it is incredibly uplifting to find someone who can love me for who I am, who can accept my health challenges, and who can look beyond my limitations. But even with this acceptance, I've often wondered if I truly accepted myself. In the past, I struggled with the idea of being "too much." Too sick, too dependent, too weak. I'd push through painful episodes because I didn't want to be a burden. It wasn't just about how I thought I might appear to my partner but about my insecurities as a man. The societal expectations of masculinity weighed heavily on me. How could I be a strong, supportive partner if I couldn't even carry my own body through a crisis? This feeling of weakness was one of my greatest insecurities. I wanted to keep up with my partner, go out in the cold, be social, and travel without worrying about my health. I found myself constantly in a tug-of-war between the desire to be "normal" and the need to listen to my body. Spontaneity was especially difficult. When sickle cell flared up, it was a cruel reminder that I couldn't always control my life the way I wanted to. Accepting Help and the Vulnerability of Love A significant part of my growth has come from recognizing that vulnerability is not a weakness; it is, in fact, a powerful strength. I've come to understand that the right partner will love me not despite my condition, but because of my resilience, character, and heart. Acceptance from a partner means they love you for who you are, not just for your health status or limitations. The open communication about how sickle cell affects my life – what I need, how it impacts me physically and mentally – can only bring us closer. That said, I've also had to accept the emotional burden that being cared for can bring. There are times, particularly during a crisis, when I need help with the simplest tasks, like cooking, showering, or even resting. When you're used to being independent, accepting that you need someone else can be incredibly difficult. But in those moments of need, I have to remind myself that love and care are reciprocal. It's OK to lean on your partner, just as they lean on you. Still, sometimes, I struggle with the feeling of being a burden. It's hard not to feel guilty when I see the emotional and physical toll my condition takes on my partner. It can feel like I'm taking more than I'm giving. But I've learned that relationships are about balance – about being there for each other in both the good and bad times. It's through these vulnerable moments that trust is built, and a deeper bond is formed. Long-Term Relationships: The Role of Trust and Empathy For any relationship to thrive, especially one where a chronic illness is a factor, trust and vulnerability are essential. These two elements are the foundation of love and support. In a long-term relationship, there will inevitably be low points – moments where one partner feels overwhelmed, where the pain or fatigue from sickle cell is too much to bear. But in these moments of struggle, the love and care shared between partners become the most important. A long-term partner must understand that no one can "fix" everything. Sometimes, they can best offer empathy, understanding, and their presence. It's about helping each other through the hardest moments, even when words are insufficient. And in turn, it's about knowing that you, too, will be there for your partner when they need support, no matter what challenges life throws your way. As much as sickle cell may impose limitations on my life, it does not diminish the love and connection I can share with someone. The insecurities I've faced in past relationships were rooted in my own fears and doubts about being worthy of love. But I've come to realize that love is not about perfection – it's about accepting each other, flaws and all. And I've learned that it's OK to need help. It's OK to be vulnerable. Conclusion: Love Is Possible, Even With a Chronic Condition Insecurities are a natural part of living with sickle cell, especially in long-term relationships. But love, real love, has a way of erasing those insecurities. Over time, I've learned to confront and work through these fears. I've learned that love is not about what I can give in terms of physical strength or spontaneity; it's about the bond we share, the trust we cultivate, and the care we offer one another. Despite all the internal battles I face, the reality is that love is possible for people with chronic conditions. Sickle cell may be a part of who I am, but it does not define me or my capacity to be loved. I owe it to myself to embrace my worth and tackle these insecurities head-on. In the end, the greatest love we can offer is to love ourselves with our weaknesses and struggles. Knowing that, with the right partner, we are worthy of a love that's patient, understanding, and unconditional.
Zawya
14-05-2025
- Health
- Zawya
H.H. Sheikha Shaikha bint Saif bin Mohamed Al Nahyan inaugurates new Thalassemia & Sickle Cell Center at Burjeel Medical City
The center supports individuals living with thalassemia and sickle cell disease by delivering a holistic, patient-centric, and evidence-based model of care ABU DHABI: Under the patronage and in the presence of Her Highness Sheikha Shaikha bint Saif bin Mohamed Al Nahyan, wife of His Highness Sheikh Dr. Sultan bin Khalifa Al Nahyan Advisor to His Highness the President, and Chairperson of the Emirates Thalassemia Society, Burjeel Holdings has launched a Thalassemia & Sickle Cell Center at its flagship quaternary care hospital, Burjeel Medical City (BMC) in Abu Dhabi, in a step towards redefining the standard of care for individuals with inherited blood disorders. Her Highness Sheikha Shamma bint Sultan bin Khalifa Al Nahyan said in the opening speech she delivered on this occasion: "In my mother's unwavering commitment to thalassemia patients, I have witnessed how compassion, when paired with vision and persistence, can transform countless lives across generations and beyond borders. The newly inaugurated Thalassemia and Sickle Cell Center by Burjeel Holdings' state-of-the-art facility will provide compassionate and comprehensive care to patients and their families." The center was inaugurated in a grand ceremony also attended by His Highness Sheikh Khalifa bin Sultan bin Khalifa Al Nahyan, Dr. Shamsheer Vayalil, Founder and Chairman of Burjeel Holdings, Mr. Omran Al Khoori, Board Member, and a number of Burjeel leaders. The opening was also attended by members of the Board of Directors of the Emirates Thalassemia Society and a number of leaders from the Department of Health in Abu Dhabi. The center supports individuals living with thalassemia and sickle cell disease by delivering a holistic, patient-centric, and evidence-based model of care, supported by a multidisciplinary team of world-renowned experts. The center offers fully integrated outpatient services and a dedicated transfusion unit operating seven days a week. The center is distinguished by several key differentiators, including extended transfusion services across the UAE via Burjeel's hospital network, internationally validated MRI quantification of iron overload in the heart and liver, and in-house molecular genotyping capabilities. Patients are cared for by experts with decades of experience in managing both pediatric and adult cases of thalassemia and sickle cell disease. With the region reporting considerably high prevalence rates of thalassemia and sickle cell disease, the center aims to bridge critical gaps in long-term care. The center's strategic location within a quaternary care facility ensures direct access to advanced medical and surgical subspecialties, enabling seamless referrals and comprehensive management of complications. 'Our goal is to establish the Thalassemia & Sickle Cell Center as a regional hub for cutting-edge care and research in rare blood disorders. What makes this center unique is the combination of global clinical expertise, access to the latest therapies, and the ability to deliver care in line with international guidelines authored by the very people leading the services here. We are not only focused on treatment, but also on improving patients' quality of life and future outcomes through holistic, personalized care,' said Prof. Khaled Musallam, Group Chief Research Officer, Burjeel Holdings, and Director of the Thalassemia & Sickle Cell Center. With an international advisory board of global key opinion leaders, the center adheres to leading global standards including those of the Thalassaemia International Federation with necessary local adaptations to meet the specific needs of patients in the UAE and wider region. Its continuum of care begins at diagnosis and spans childhood to adulthood, with tailored transition programs and advanced treatments for conditions including transfusion-dependent β-thalassemia (TDT), non-transfusion-dependent β-thalassemia (NTDT), and sickle cell disease. The center will also work closely with the Center for Research on Rare Blood Disorders (CR-RBD) at BMC also headed by Prof. Khaled Musallam, to identify and enroll eligible patients in global clinical trials, ensuring access to the latest innovations in treatment including disease-modifying and curative therapies. CR-RBD has swiftly become recognized as one of the most active hubs for research on hemoglobin disorders globally.
The Guardian
11-05-2025
- Health
- The Guardian
Nottinghamshire families left unaware of babies' blood test results in second NHS error
Hundreds of families in Nottinghamshire have potentially been left unaware of whether their babies may be carriers of certain genetic blood disorders, the second such NHS error to come to light since the start of this year. About 300 families whose children were born between 2004 and September 2024 in Bassetlaw and mid-Nottinghamshire were identified by the NHS as being affected. Changes in how genetic testing results were communicated to families meant they may not have been informed of whether their child was a carrier of a trait for sickle cell disease or for an unusual haemoglobin gene. NHS England said it has contacted the families affected directly by letter so that they understand what being a carrier means for them and their children. The NHS has also said that since the error, changes have been made to the way blood results are communicated within the area to make it more robust. Nottingham University hospital's local haemoglobinopathy team is now delivering the screening result for sickle cell carrier status to parents of children in the whole of Nottingham and Nottinghamshire. Previously, this sickle cell notification pathway only covered the city and the south of the county. Sickle cell disease primarily affects people from an African-Caribbean background. Testing for the sickle cell trait is important because although carriers do not have sickle cell disease symptoms, there is evidence they have additional medical needs, such as if they need an anaesthetic. The sickle cell trait may affect women during pregnancy, and carriers can experience pain during intense physical activity and at high altitudes, research suggests. If two parents carry the sickle cell trait, there is a one in four chance their children will have sickle cell anaemia. In January, the Guardian reported that an error by the NHS led to more than 800 families in Derbyshire not receiving the results of a heel prick test given to babies after birth, meaning they did not know whether their child was a carrier of a trait for sickle cell disease or for an unusual haemoglobin gene. NHS officials apologised 'wholeheartedly' to the families affected, saying the error 'shouldn't have happened' and that an investigation had been launched. John James, the chief executive of the Sickle Cell Society, said: 'It is unacceptable that, once again, families have not been informed of their children's newborn screening results. The fact that this issue has now emerged in another area, over a 20-year period, highlights a catastrophic weakness in the NHS's system for communicating test results – with distressing consequences for parents and individuals who remain unaware of this vital information. Sign up to First Edition Our morning email breaks down the key stories of the day, telling you what's happening and why it matters after newsletter promotion 'While these individuals do not have sickle cell disorder, knowing they carry the trait is crucial for their long-term health and wellbeing, and for making informed decisions about their future, particularly as some will now be old enough to consider having a family of their own. 'We welcome the NHS's efforts to resolve the situation in Nottinghamshire, but we are calling on those responsible to provide reassurance that processes in all other areas of England are robust and fit for purpose. It should not take repeated failures for basic procedures to be fixed. Getting screening right isn't optional – it's essential.' An NHS spokesperson said: 'We are sorry that we failed to inform some families in Bassetlaw and mid-Nottinghamshire that their children were carrying the sickle cell or unusual haemoglobin genes immediately following the results being available. We are putting in place a robust process to make sure this does not happen again.'
