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Blood Disorders

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There are a collection of inherited blood disorders that keep the elements of our blood from doing their unique jobs, thus making it hard for our bodies to function. These disorders are caused by faulty genes within the cells of our blood, which means that gene therapy might offer a potential way to fight symptoms in patients with Sickle Cell Disease, Beta Thalassemia, or Fanconi Anemia.

About Blood Disorders

Blood is very important to our body. There are different components that make up our blood, each serving different functions. Red blood cells supply oxygen to cells and tissues, while also helping to remove waste. White blood cells fight infectious intruders like bacteria. Platelets control blood clotting, which is vital to helping your body control a cut or an injury.

When our blood cells and platelets can’t operate efficiently, there are severe consequences for our body. Reduced blood flow and reduced oxygen in our bodies can cause weakness, fatigue, slowed growth, severe pain and other serious complications that make it difficult to go about daily life.

Usually, a blood disorder is detected in a patient by doing a blood test, such as a complete blood count (CBC). Since blood disorders are inherited, people who are considering having a child are encouraged to meet with a genetic counselor to assess risks.

Goal of Gene Therapy

The aim for blood disorder gene therapy is a one-time administration that targets the cause of the disease. By targeting the exact cause of the disease—a faulty gene—gene therapy eliminates the need for recurring interventions and there is no need for a donor. Unlike a bone marrow transplant, a patient’s own cells are used. Here’s an example of how this works:

Fanconi anemia is a disorder that stops the bone marrow from making enough red blood cells, white blood cells and platelets. This is because of a mutation in one of several genes. However, an ex-vivo gene therapy approach can target these faulty genes to help a patient’s body function properly. By the way, “ex-vivo” means that the treatment occurs outside of the body— as opposed to an “in-vivo” treatment which happens inside the body. In this approach, a patient’s hematopoietic stem cells, also known as HSCs, are removed from the body. These stem cells are cells that can serve a variety of roles. Our HSCs give rise to red and white blood cells and platelet cells.

A vector, which is often a virus, is able to deliver the new working gene into the HSCs. Don’t worry, the viral genes that are known to cause disease have been removed. The HSCs are then returned to the body, helping correct the disease. It is important to note that gene therapy is not a cure for the disease, but instead a means to control disease progression.

Treatment Pipeline

There are gene therapy approaches for Beta Thalassemia and Fanconi Anemia that are currently in preclinical studies and clinical trials. Research and development of these therapies is being done by companies including Aruvant, Bluebird Bio, Editas, Genethon, Orchard, Rocket Pharmaceuticals, Sanofi Genzyme, Sangamo

To stay up to date on active and recruiting clinical trials in the U.S. or globally, visit the ASGCT Clinical Trials Finder.

Participate in Clinical Trials

You may be curious how patients can participate in clinical trials as a way to receive an investigational treatment at no cost, while also benefiting the medical community and others who have the disease. If you think you or your child may be eligible for a clinical trial, it’s best to speak with your primary care physician or hematologist first to learn more and determine if it is right for you. Then, the individual must meet the eligibility criteria, which can be based on the age at the time of dosing, physical ability, past medical treatment and more.

Get Involved

At this time, we do not know if or when these gene therapy treatments will be approved by the FDA and available commercially. The overall process to ensure that the treatment is safe and effective can take several years. One way you can help is to become involved with a patient advocacy organization. They work hard to fund research, raise awareness and advocate for treatment development. They’re also a great way to connect with other families and patients affected by blood disorders, if you’re looking for support and advice. The diseases may be rare, but you're not alone.

A number of organizations provide patients and families with resources in managing inherited blood disorders:

Related Pages

Last Updated: 10/22/2020

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