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Ask people about their earliest memories and most will recall summer vacations or family parties. But for Josephine Bila, many of her earliest memories include holding her mother Joycelyn’s hand during a blood transfusion. These treatments have been a regular and frequent part of her life since birth, because she has beta-thalassemia a rare genetic disorder that reduces her body’s ability to produce enough healthy red blood cells, leading to low blood counts.

Josephine is now 42 and doesn’t have her mother with her during transfusions anymore. She’s responsible for her own care and independently deals with the impact of her rare disease. But the transition from relying on her parents to owning her care wasn’t very smooth. That’s why for this year’s International Thalassemia Day, Josephine offers some advice to young adults who will also one day be responsible for their own beta-thalassemia care.

JOSEPHINE BILA

JOSEPHINE BILA AT THREE YEARS OLD, WHEN SHE BEGAN TRANSFUSIONS. AS SHE GOT OLDER, TEACHERS ISOLATED HER FROM THE OTHER CHILDREN, MAKING IT DIFFICULT FOR HER TO MAKE FRIENDS.

Talk to Others About Your Disease

When Josephine was growing up in Long Island, NY, she felt lonely and alienated in elementary school because of her rare disease. Her small body required weekly blood transfusions, which forced her to be absent from school more often than others. She felt that her classmates viewed her as “different” and that she had to hide her condition to make friends.

Her teachers didn’t know much about her rare disease. At the time, there were few resources available for anyone to learn about beta-thalassemia.

“Teachers were afraid I would get hurt on the playground,” Josephine said. “They would keep me in the classroom during recess, which made me feel like a social outcast.” When she came home, she cried to her parents about the experience.

Fortunately for her, high school brought a fresh start. Josephine made new friends who were supportive and this made her feel more comfortable speaking about her condition.

As she learned more about her illness, she was able to explain it better to her friends. For her, talking to others about what she was going through with her rare disease, instead of trying to hide it, helped her feel better. This reduced some of the emotional and social stress in her life.

  • Josephine Graduation
  • Josephine Author
  • Josephine Congress
  • Josephine had a very difficult time in high school. Pictured here with her parents on her graduation day, Josephine went on to earn undergraduate and graduate degrees.
  • Josephine authored a book to help young patients with beta-thalassemia navigate their care. Pictured here, Josephine speaks to patients at the first Maldivian thalassemia society conference in Male, Maldives.
  • Josephine shares her experience transitioning from childhood to adult care for beta-thalassemia. Pictured here, Josephine speaks at the thalassemia international federation world congress in Abu Dhabi.

Don’t Be Afraid to Talk to Your Doctor About Your Treatment

Most teenagers want more freedom, independence and control in their lives. For Josephine, part of that independence meant preparing her chelation medicine and taking herself to her blood transfusion appointments after she passed her driver’s test.

But there were moments when she struggled as she learned to take control of her care. For instance, in her 20’s, she switched from a pediatric to an adult hematologist. After the switch, the hospital’s blood bank staff informed her new doctor that they were going to stop washing her donor’s cells, a process that removes most of the plasma proteins from a donor’s red blood cells to reduce potential allergic reactions.

Josephine knew that she’d had transfusion reactions in the past, which is why they initially began washing the blood that she received. While Josephine was concerned, she said nothing. She assumed that the blood bank staff and her doctor knew better than she did. Who was she to question them?

She, unfortunately, had an adverse reaction during her next transfusion. She still said nothing. Then her next transfusion caused another reaction. That was when she knew she had to speak up for herself.

“If I didn’t finally speak up and say something, maybe I wouldn’t be here right now.” Looking back, she wished she had coordinated more communication between the new and old doctors. “My patient file was so thick; I don’t know how much of it my new doctor read or understood.”

Soon after that, she decided to move to New York City, partly for her career and partly because there were more specialists familiar with treating beta-thalassemia there.

Be your own best advocate because no one else will.

Advocate for Yourself

During her transition from childhood to adulthood, Josephine learned the importance of not only sharing her experience with her friends and family, but also advocating for people living with beta-thalassemia. Specifically, patients who are desperate for more information and potential new treatment options.

Josephine has become one of the beta-thalassemia community’s fiercest advocates. She publishes a blog called “Thalassemia Diet,” where she shares information for people living with the disease, and a YouTube channel that features interviews with patients, doctors and researchers. She shares information about her disease on Facebook and Instagram, has spoken at the annual Thalassemia International Federation World Congress and is on the board of directors for the Cooley’s Anemia Foundation. She has also authored a book, titled “Transfusion: A Patient Survival Guide,” so other patients with beta-thalassemia can learn from her experiences.

Her efforts are focused on improving the availability of information about beta-thalassemia and raising awareness of the disease. Because if teachers and classmates have more information, maybe boys and girls won’t feel so alone like she did when she was younger. Because if there is more open communication between patients and their doctors, maybe they could provide better care. Because greater awareness in the research community may lead to therapies and potentially fewer missed days at school, work or with family.

Today, Josephine still has her mother and father by her side – not during transfusions, but on the advocacy front. Four years ago, her parents, Joycelyn and Nick, along with her sister Gloria, began the annual Team Buffalo Care Walk in Buffalo, NY in honor of Josephine. They wanted to raise awareness in the community about the impact beta-thalassemia has on those living with the disease and their families.

Josephine tells younger patients, “Be your own best advocate because no one else will. Beta-thalassemia is a serious condition, which is why it’s important to have a supportive care team to address your symptoms and maintain your health.”

To learn more about beta-thalassemia, read “The Expanding Prevalence of Beta-thalassemia.”

“Where are you?” Gina Leonardi recognized the voice on the other end of the phone; it was her boss. But, she had told him the day before where she would be.

As a toddler, Leonardi was diagnosed with beta-thalassemia, a rare blood disorder that reduces the level of oxygen-carrying hemoglobin in her blood, resulting in anemia — a lack of functioning red blood cells that causes fatigue and weakness. To help restore her red blood cells, for the last 48 years, she has received regular blood transfusions to help treat her anemia. That’s where she sat when she got the latest interruption from her boss. Within months, she would be out of her job.

Dealing with a rare disease like beta-thalassemia can make maintaining a job tough. In a recent survey, 38 percent of patients with rare diseases said they missed more than 30 days of work in the last 12 months because of their illness. In addition, in a survey of European employees, 41 percent of patients and caregivers said they needed special leave at work, but could not obtain it. For this year’s Rare Disease Day, which carries the theme of “bridging health and social care,” Leonardi explains how support from her family throughout her treatment has helped her deal with those who may be insensitive to her condition.

GINA LEONARDI LIVES WITH A RARE DISEASE CALLED BETA-THALASSEMIA AND FINDS SUPPORT FROM HER FAMILY.

How often do you receive transfusions to treat your anemia from beta-thalassemia?

“I get transfusions every three weeks. While I recognize these are vital to treat my anemia, it disrupts my routine because I’m in the hospital for a couple of hours, depending on how many units of blood I get. It takes up my entire day. I can’t do much while I’m there and don’t feel like doing anything after either. I’m just drained.

I used to drive from my house in New Jersey to a hospital in New York City. I would leave at 10 in the morning and not get home until 10 at night. Then four years ago, I had my daughter and I couldn’t spend that much time away from her, so I started going to a hospital about a half hour drive from where I live.”

What routines have your treatments disrupted?

“Beta-thalassemia has disrupted my career. I’ve been in the mortgage industry for years, and I was a loan officer assistant for a while. It’s a cut-throat business. I had informed my boss that I had a medical condition, and I told him ahead of time that I was going to be out every three weeks because I needed to get treatment.

Despite that, the demands of the job added even more stress to an already stressful situation.”

My job was very important to me, but my health has to come first.

How did that eventually turn out?

“My medical condition forced me to leave my job. I did not feel like my employer was supportive or that I could meet the time commitments required to perform my role.

My job was very important to me, but my health has to come first. So I left.”

PHILLIP CUTALO HAS ACCOMPANIED HIS DAUGHTER GINA LEONARDI TO HER BETA-THALASSEMIA TREATMENTS FOR DECADES.

Did you end up finding another job?

“Quitting was the best thing I could have done. Now, I’m a real estate closer, collecting and reviewing the documents when someone buys a home. It’s much more flexible than being a loan officer assistant for a mortgage brokerage, so if I need to miss a day of work, I can do so without repercussions.”

How important has support from family and friends been in this process?

“My parents have always been there for me. My mom took me into the city for my treatments when I was younger, and then my dad took over when she started working. We’d go to lunch together, and he’d turn on the TV in the hospital. It’d always be too loud, and I would have to yell at him to turn it down.

He still comes with me to this day. We have a very close relationship. He doesn’t leave my side.”

Do you have any tips for other people living with a rare disease?

“The first thing is to stay positive and keep up with your treatments and tests. Do what you have to do to live your life.

I would also like people to know that they are not alone. Some people are lost and feel like they don’t have anyone. I’m blessed to have my family and friends. I want people to know that it’s okay to talk with others. There’s so much support out there for people with rare diseases, and I hope that they are taking advantage of it.”

To learn more about this rare disease and others, read “Rare Disease Day: What It’s Like Living with Behçet’s Disease.” 

Beta-thalassemia is a blood disorder, with more than 60,000 infants born worldwide with the disease each year. However, unless you live in Asia, India, the Middle East or the Mediterranean where beta-thalassemia is most prevalent, you may never have heard of this inherited blood disorder that disrupts the body’s ability to make hemoglobin.

But that may be changing as doctors in Europe and North America are increasingly encountering patients with beta-thalassemia. “We’re only now starting to deal with it, and there is a lot of work that needs to be done,” explained Dr. Maria Domenica Cappellini, a hematologist at the University of Milan in Italy, whose research focuses on the disease.

As hematologists gather for this year’s American Society of Hematology Annual Meeting in San Diego, Cappellini and other experts are sounding the alarm about the expanding prevalence of beta-thalassemia so that physicians and health systems everywhere can better prepare for an increasing number of patients with this genetic disorder.
 

Spreading Faster Than Ever

Beta-thalassemia is an inherited disease caused by mutations in a gene required for making a component of hemoglobin – a protein that carries oxygen in the blood. Those mutations either prevent or reduce the production of hemoglobin, which can cause a shortage of mature red blood cells and lead to anemia.

Dr. Maria Domenica Cappellini

DR. MARIA DOMENICA CAPPELLINI, A HEMATOLOGIST AT THE UNIVERSITY OF MILAN IN ITALY, BELIEVES MORE COUNTRIES NEED TO PREPARE FOR THE EXPANDING PREVALENCE OF BETA-THALASSEMIA.

Often times, children inherit the gene mutation from parents who are carriers but do not show any symptoms of the disease. In this scenario, the child has a 25 percent chance of developing beta-thalassemia and a 50 percent chance of being an asymptomatic carrier like their parents.

The mutations that cause beta-thalassemia are more common in Asia, India, the Middle East and the Mediterranean where they are found in up to 20 percent of the population. But the increase in modern migration means that cases are now cropping up more often in other regions.

Southern Mediterranean countries recognize the rise in patients with beta-thalassemia and have increased resources to meet the growing demand appropriately. While in Northern and Western Europe, health professionals and policymakers acknowledge this trend, they lack reliable data on the frequency and patterns of the disease just yet. Without data, it’s difficult to make the case for investing in programs to address the issue, which means patients struggle to find the right doctors.
 

Bracing for Beta-thalassemia

Many patients with beta-thalassemia require life-long regular blood transfusions and medication to reduce the levels of iron in their body. “These patients cannot produce enough mature red blood cells to transport oxygen throughout their bodies,” Cappellini said. “So transfusions are necessary for their survival.”

Understandably, beta-thalassemia treatment requires significant expertise and resources, including safe blood donations. Many countries are preparing their health care systems by improving resources for blood transfusions. “As migration throughout the world continues to change, health care systems will need to evolve rapidly to meet the needs of a more diverse population,” Cappellini said.

“I get daily emails from colleagues in other parts of Europe asking how to treat patients with beta-thalassemia,” Cappellini said. “We’re trying to make this information as accessible and comprehensive as possible.”

Beta-thalassemia is something that hematologists in North America and Europe need to get up to speed on and quickly.

Longer Term Solutions

We’re still a long way from being able to correct or erase the mutation that causes beta-thalassemia. Currently, the only available cure is a stem cell transplant, but many patients may not be eligible. Fewer than 10 percent of patients eligible for a stem cell transplant actually receive one, often due to high costs or a lack of a donor.

Meanwhile, researchers are constantly looking at other ways to improve treatment options and patients’ quality of life, including therapies that could reduce the need for red blood cell transfusions. Transfusion frequencies vary based on patient needs, sometimes requiring them to spend hours receiving treatment every couple of weeks.

Another long-term solution is prevention through carrier screening and education, and some countries have found success with this approach. For instance, Cyprus, Italy and Greece enacted mandatory premarital screening and genetic counselling in the 1970s and have subsequently achieved almost a 100 percent reduction in at-risk births.

Without mandatory screenings, health care systems rely on education to reduce the incidence of beta-thalassemia. “If we don’t educate more populations about how this disease is transmitted, we will continue to see an increasing number of carriers and an expanding prevalence of beta-thalassemia around the world,” said Cappellini. “Beta-thalassemia is something that hematologists in North America and Europe need to get up to speed on, and quickly.”

To learn more about beta-thalassemia, read “The Need for Safe Blood Donations for Beta-thalassemia Patients.”

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When Ahmet Varoğlu was diagnosed with beta-thalassemia at the age of four, his family knew nothing about the disease. But they would soon learn that it is a rare, inherited blood disorder for which there is no cure. Now 49, Varoğlu serves as President of the North Cyprus Thalassaemia Society and Vice President of the Evrensel Hasta Haklari Derneği (Universal Patient Rights Association) in Northern Cyprus. He is dedicated to sharing his story to help improve understanding and increase patient access to disease education and other resources. This International Thalassemia Day (May 8), Varoğlu reflects on his experience and the challenges still facing patients today.

Beta-thalassemia is caused by a genetic defect in the production of hemoglobin, a protein that carries oxygen to red blood cells throughout the body. The defect leads to fewer and abnormal red blood cells, which can cause chronic anemia. The treatment of anemia often requires frequent blood transfusions, which are associated with serious health risks such as iron overload and diabetes.

The years following his initial diagnosis were difficult. “No one knew how to treat the disease,” he said. “There were no medications or specialized doctors. We didn’t even have a hospital to go to for treatment.”

As a result, Varoğlu and his family had to search for answers on their own after his diagnosis. Not until the 1970s were pilot programs launched in Cyprus to drive public awareness, education and prevention efforts. Patients in Northern Cyprus also banded together with family members caring for those impacted by the disease to form a local thalassemia patient society. According to Varoğlu, since its development in 1978, the society has been instrumental in helping patients make informed treatment decisions, providing access to healthcare professionals and educating physicians about beta-thalassemia.

Today, national education and prevention programs for beta-thalassemia can be found in several countries, including Cyprus, as well as Greece, Iran, Thailand and the UK. These programs provide information about risk factors, offer detection services to identify carriers and implement measures to reduce the spread of disease. Local organizations together with larger advocacy groups, such as the Thalassemia International Federation, are also helping to improve disease awareness and patient care. However, more needs to be done.

Current treatment approaches help to mitigate symptoms but do little to target the cause of the disease. With numerous doctors’ appointments and a need for ongoing blood transfusions, treatment requires a significant time commitment and can be costly. In addition, life-altering complications such as heart disease, bone and liver abnormalities and growth deficiencies often accompany beta-thalassemia. Patients and their loved ones have to accept that the disease will require life-long management.

Varoğlu has come to terms with the fact that beta-thalassemia will forever be a part of his life, but he’s hopeful that research efforts will improve care in the future.

“I can’t say that we are in a bad position. There have been many improvements within the past few years. But there is still no cure,” Varoğlu said. “Being informed, sharing resources and asking questions are critical for improving the future of patient care. Thankfully, research is ongoing.”

Watch this video to learn more Ahmet Varoğu’s story and hear his hope for future beta-thalassemia patients.

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On this year’s International Thalassemia Day (May 8), the beta-thalassemia community is hopeful that advances in gene therapy may lead to new treatment options. While Dr. Antonio Piga from the San Luigi Gonzaga University Hospital in Torino, Italy, shares that hope, he believes gene therapy remains distant.

DR. ANTONIO PIGA FROM THE SAN LUIGI GONZAGA UNIVERSITY HOSPITAL BELIEVES THAT SLOWING DOWN THE OVERPRODUCTION OF INEFFECTIVE RED BLOOD CELLS COULD HELP PATIENTS WITH BETA-THALASSEMIA.

DR. ANTONIO PIGA FROM THE SAN LUIGI GONZAGA UNIVERSITY HOSPITAL BELIEVES THAT SLOWING DOWN THE OVERPRODUCTION OF INEFFECTIVE RED BLOOD CELLS COULD HELP PATIENTS WITH BETA-THALASSEMIA.

“Even with recent advances, gene therapy approaches for beta-thalassemia are less than perfect,” Piga said. “Gene therapy may be a viable treatment for a majority of patients in 20 years. But what do we do until then? What if we could correct the downstream process that is broken in beta-thalassemia?”

That process is the production of healthy red blood cells, which are highly specialized for supplying oxygen to tissues and organs in the body. Produced in the bone marrow, these cells mature into little more than shipping containers for a large, multi-part protein called hemoglobin.

Within hemoglobin, iron molecules are ideally positioned to grasp oxygen molecules and transport them throughout the body. Iron-bound hemoglobin complexes give red blood cells their signature color and are essential to their maturation and function.

DURING THE PRODUCTION OF RED BLOOD CELLS, (1) FUNCTIONAL HEMOGLOBIN IS PRODUCED IN THE BONE MARROW AND (2-3) PLACED INTO RED BLOOD CELLS, GIVING THEM THEIR SIGNATURE COLOR.

DURING THE PRODUCTION OF RED BLOOD CELLS, FUNCTIONAL HEMOGLOBIN IS PRODUCED IN THE BONE MARROW AND PLACED INTO RED BLOOD CELLS, GIVING THEM THEIR SIGNATURE COLOR.

But in patients with beta-thalassemia, mutations disrupt the production of working hemoglobin in the quantities needed, so red blood cells do not mature properly; instead, they are like pale and abnormal small bags. Most importantly, they can’t pick up enough oxygen from the lungs and drop it off throughout the body.

IN PATIENTS WITH BETA-THALASSEMIA, (4) MUTATIONS DISRUPT THE PRODUCTION OF WORKING HEMOGLOBIN, (5-6) LEADING TO AN OVERPRODUCTION OF ABNORMAL RED BLOOD CELLS THAT ARE PINK-HUED AND UNABLE TO TRANSPORT OXYGEN EFFECTIVELY.

IN PATIENTS WITH BETA-THALASSEMIA, MUTATIONS DISRUPT THE PRODUCTION OF WORKING HEMOGLOBIN, LEADING TO AN OVERPRODUCTION OF ABNORMAL RED BLOOD CELLS THAT ARE PINK-HUED AND UNABLE TO TRANSPORT OXYGEN EFFECTIVELY.

“This inability to make sufficient hemoglobin contributes to chronic anemia,” Piga said. “But another distinctive and aggravating aspect of the disease is that the bone marrow works up to 30 times above, even ineffectively, with a lot of negative consequences including bone deformities.”

Piga is exploring whether it’s possible to disrupt the signals that send the bone marrow into overdrive. The hope is to treat anemia by boosting the number of red blood cells that have sufficient hemoglobin. While Piga admits the strategy would not cure beta thalassemia, it could improve quality of life for many patients living with this inherited blood disorder.

We’re hopeful that we can reduce the need for costly, time-consuming transfusions for patients.

Currently, most patients with severe forms of the disease need regular blood transfusions to shut down the bone marrow’s production of ineffective cells and augment the supply of normal red blood cells. Transfusions are cumbersome, costly and associated with risks, and they can cause complications through all the extra iron from the transfused blood cells. Since the body has no natural way to expel this metal, which can be dangerous at high levels, patients must be treated with chelation therapy to remove the excess iron.

While work remains to be done to understand how to curb the overproduction of ineffective red blood cells and the potential in alleviating chronic anemia, Piga remains optimistic.

“We’re hopeful that we can soon reduce the need for costly transfusions for patients as we continue to search for a cure,” Piga said. “That’s the best message that I can give to the beta-thalassemia community on this year’s International Thalassemia Day.”

To learn more about why new treatments are needed to reduce the need for transfusions in anemia, read “Beta-Thalassemia: Current Treatments Not Enough.”

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Riyad Elbard has been receiving monthly blood transfusions since he was diagnosed with beta-thalassemia at the age of one. Because of the condition, his body doesn’t produce enough hemoglobin to carry oxygen to his organs and tissues. Few treatment options exist for beta-thalassemia, so for patients like Elbard, a safe, adequate supply of blood is a matter of life and death.

But globally, safe blood supplies are under threat. Fewer people are registering as blood donors today than a decade ago, and many countries still lack specific legislation covering the safety and quality of blood transfusions. Elbard hopes to raise awareness of this issue on this year’s World Thalassemia Day (May 8).

“We’re very fortunate in Canada to have access to advancements in blood testing technologies and have a strong donor base,” Elbard said. “But in Eastern Europe, the Middle East, Africa and Asia, the testing technology and supply is not there.”

If fewer and fewer people sign up to be blood donors, it could become very dangerous for beta-thalassemia patients.

Growing up in Beirut during the Lebanese Civil War, Elbard has experienced the anxiety of blood shortages firsthand. At several times during the conflict, his family would have to ask friends and family to donate blood to ensure that he had enough to stay healthy.

The need for blood and blood products is increasing each year, according to the World Health Organization. At the same time, nearly 30 percent fewer people became blood donors worldwide in 2015 than a decade earlier, according to one survey.

“If fewer and fewer people sign up to be blood donors, it could become very dangerous for beta-thalassemia patients,” Elbard said. “We have to educate younger generations on the importance of blood donation. Employers can make it easier for employees to donate by holding blood drives at work and giving time off to give blood.”

IN 2005, BETA-THALASSEMIA PATIENT RIYAD ELBARD VISITED BEIRUT WHERE HE GREW UP DURING THE LEBANESE CIVIL WAR AND EXPERIENCED THE ANXIETY OF BLOOD SHORTAGES FIRSTHAND.

IN 2005, BETA-THALASSEMIA PATIENT RIYAD ELBARD VISITED BEIRUT WHERE HE GREW UP DURING THE LEBANESE CIVIL WAR AND EXPERIENCED THE ANXIETY OF BLOOD SHORTAGES FIRSTHAND.

In 1981, Elbard and his family moved to Canada, and today he receives his transfusions at the University Health Network in Toronto. Every four weeks, he arrives at the clinic at 10 a.m. for cross-matching to find donor blood that is compatible with his. By noon, his blood is usually ready. For the next five hours, Elbard chats with other patients, watches movies or does some work while he receives multiple units of blood through an intravenous line.

Every blood transfusion that he receives increases his risk of acquiring a bloodborne infection. Elbard trusts the blood he receives from the Canadian Blood Services is properly screened and tested today, but that hasn’t always been the case in the country.

In the 1980s, thousands of Canadians were infected with HIV and Hepatitis C from tainted blood products. Although available, blood testing wasn’t government mandated at that time. The resulting scandal led to the overhaul of the Canadian blood system.

“Fortunately, I did not receive any tainted blood, so I don’t have hepatic C or any other viral infection,” Elbard said. “But I thought that was an issue that we needed to advocate for, so I got involved with the restructuring of the Canadian blood system.”

Today, Elbard continues to advocate for blood safety as infectious pathogens such as the Zika virus continue to emerge and threaten blood supplies. He has become a board member of the Thalassemia Foundation of Canada and the Thalassaemia International Federation. He’s also argued that blood should be included on the World Health Organization’s Essential Medicines List at 2013 Global Forum for Blood Safety.

In other countries, blood transfusions remain a gamble for beta-thalassemia patients. Overall 65 percent of countries have legislation covering the safety and quality of blood transfusions.

BETA-THALASSEMIA PATIENT RIYAD ELBARD LIVES IN TORONTO AND TRUSTS THAT THE MONTHLY TRANSFUSIONS THAT HE RECEIVES HAS BEEN PROPERLY SCREENED AND TESTED BY CANADIAN BLOOD SERVICES.

BETA-THALASSEMIA PATIENT RIYAD ELBARD LIVES IN TORONTO AND TRUSTS THAT THE MONTHLY TRANSFUSIONS THAT HE RECEIVES HAS BEEN PROPERLY SCREENED AND TESTED BY CANADIAN BLOOD SERVICES.

“Countries need to develop national blood systems that function well and develop policies on blood safety and screening,” Elbard said. “It’s also important to manage shortages in critical situations and anticipate any low blood inventories, including contingency plans.”

But it’s not just governments that can take action. Individuals can help beta-thalassemia patients by committing to give more blood, more regularly. On this year’s World Thalassemia Day (May 8), Elbard hopes that sharing his story will help inspire people to do just that.

To learn more about why new treatments are needed to reduce the need for transfusions, read “Beta-Thalassemia: Current Treatments Not Enough.”

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Beta-thalassemia patient Louis Pericleous has raised awareness of the disease by speaking at conferences and events.

Beta-thalassemia patient Louis Pericleous has raised awareness of the disease by speaking at conferences and events.

For the past 50 years, Louis Pericleous, who lives in Cyprus, has been in and out of the hospital nearly every week to receive life-saving blood transfusions. He is one of hundreds of thousands of people worldwide living with beta-thalassemia, a genetic disorder that causes profound anemia, in which the body does not make enough red blood cells to carry oxygen to support the body. Even with blood transfusions, patients may develop hypothyroidism, diabetes, lung problems and cancer as a result of their disease and the transfusions used to treat it. Beta-thalassemia can lead to an early death for some patients, and there is a clear need for new therapies.

There is no approved drug to treat the anemia of beta-thalassemia. The only cure for beta-thalassemia is a bone marrow transplant, but finding a match is typically limited to a small percentage of patients. So most patients live like Pericleous—relying on transfusions, typically every two to four weeks, which provide healthy red blood cells from a donor, and constantly keeping a close eye on their health.

“We really depend on the kindness and love of other humans,” Pericleous, a former Board Member of Thalassaemia International Federation and former President of the Cyprus Thalassaemia Association, said. “If people didn’t donate their blood, we couldn’t survive.”

Beta Thalassemia: Current Treatments Not Enough

Without treatment, affected individuals may die early due to diseases such as heart failure. And while regular transfusions lengthen lifespan and ease some symptoms, the constant blood transfusions can cause iron overload (too much iron in the body), which can lead to heart and liver problems and hormone imbalances unless patients also take iron-chelation therapy.

In developing countries, the standard of care is often sub-optimal. In lower socio-economic regions, fewer people donate blood, and the donations that are made are often not thoroughly screened for infectious diseases such as HIV and hepatitis or antigens that prod the recipient’s immune system to attack the new red blood cells.

“It’s amazing that in this day and age people cannot access or afford quality treatments,” Pericleous said. “In areas other than the United States, Canada and Europe, thalassemia remains a deadly disease.”

Thomas Coates, a hematologist at the Children’s Hospital of Los Angeles, says access to appropriate care is essential for beta thalassemia patients.

Thomas Coates, a hematologist at the Children’s Hospital of Los Angeles, says access to appropriate care is essential for beta thalassemia patients.

Physicians who have little experience with thalassemia may also give subpar treatment, raising the risk for complications. “To protect patients from iron overload, doctors sometimes don’t transfuse as often enough,” Thomas Coates, a hematologist at the Children’s Hospital of Los Angeles, said. “Inadequate transfusion increases the risk of certain complications of thalassemia and results in chronic fatigue.” Beyond fatigue, under-treatment of anemia can hinder growth and even lead to heart failure.

Beta thalassemia also affects patients on a psychological and social level, according to a 2014 study. For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others see them.

Managing this disease without blood transfusions and iron chelation remains a dream for most of us.

For Pericleous and others like him, improving their lives means freeing them from the constraints and complications of transfusions. “It would be ideal to find a substitute such as a pill or a tablet instead of a blood transfusion,” Pericleous said. “But managing this disease without blood transfusions and iron chelation remains a dream for most of us.” Now it’s up to researchers and clinicians to help them achieve that dream.

To do their part, Celgene and Acceleron have initiated a global clinical study for patients with beta-thalassemia. More information about this study as well as others in beta-thalassemia can be found at ClinicalTrials.gov.