Unveiling disease-causing genetic changes in chromosome 17
Complications Of Beta Thalassemia
The blood disorder beta thalassemia can bring complications that include things like bone damage, heart problems, and slow growth in children. Treatment can help you or your child avoid many of these problems.
Beta thalassemia lowers the amount of a protein in your body called hemoglobin. Hemoglobin helps red blood cells carry oxygen to your organs and tissues. If you or your child doesn't have enough hemoglobin, you can get anemia, which makes you tired and short of breath.
Low oxygen and too much iron cause most beta thalassemia complications. Iron is a mineral your body uses to carry oxygen and keep your muscles healthy. In beta thalassemia, your intestines absorb more iron than normal. The blood transfusions you get to treat the disease also contain iron. All of that extra iron builds up in your heart, liver, and the glands that make hormones and damages these organs.
The complications you or your child get depend in part on the type of beta thalassemia. "Beta thalassemia minor" is mild and usually doesn't cause problems. Anemia from "beta thalassemia intermedia" causes slowed growth in children, weak bones, and an enlarged spleen. "Beta thalassemia major" is the most serious type, and it can cause many complications, including slow growth in children, an enlarged spleen, heart and liver problems, and bone damage.
If you're the parent of a child who has complications from beta thalassemia, talk to your friends and family to get the emotional backing you may need as you help your child manage their symptoms. If you find yourself getting anxious or stressed out, talk to your doctor. They can put you in touch with social workers or mental health professionals who can help.
Your child's body needs lots of energy to grow. Cells need oxygen to create that energy.
Without enough oxygen, a child will grow more slowly. Puberty may also start late in kids with beta thalassemia.
Your spleen is an organ that makes new infection-fighting white blood cells and filters out the old ones that your body doesn't need anymore. Beta thalassemia makes your spleen make more new blood cells and break down more old blood cells than usual, so it has to work harder.
Just like a muscle grows when you use it more, overuse makes your spleen get bigger. If your spleen gets too large, you may need an operation called a splenectomy to remove it.
Your spleen is part of your body's defense system against germs. It makes the white blood cells that protect you from infections.
An enlarged spleen doesn't work as well as it should, which could make you more likely to get sick. And if you have surgery to remove your spleen, you or your child will be more likely to catch infections like the flu and pneumonia.
Getting all of your recommended vaccines and taking antibiotics will help to protect you from some of these illnesses. Let your doctor know if your child with beta thalassemia runs a fever. This could be a sign of a serious infection.
In severe beta thalassemia, both anemia and iron overload can damage the heart and cause problems like:
Heart problems can get worse without causing any symptoms. You or your child should get tests like echocardiograms, a chest X-ray, and a stress test each year to watch for any problems. Medicine to remove extra iron in your body, called chelation therapy, can help prevent heart problems from too much iron.
Your liver helps keep the right balance of iron in your body. Extra iron due to beta thalassemia or blood transfusions can build up and damage the liver.
Although it's rare, it is possible to get hepatitis B from a blood transfusion, which can also damage the liver.
Eventually your liver can become so scarred that it doesn't work right, a condition called cirrhosis.
Your body makes new blood cells in bone marrow, the spongy area inside your bones. When you have anemia, your bone marrow has to work overtime to make enough red blood cells to meet your body's needs.
As the bone marrow works harder, it stretches. Your bones become thinner, wider, and weaker than usual. They can break easily.
Extra bone growth may also cause your forehead, cheekbones, or jaw to stick out more than usual.
Your doctor will monitor you or your child for complications and treat any problems. One way to avoid complications is to follow the treatment plan your doctor prescribed.
If you have severe beta thalassemia, blood transfusions can help you avoid some of these problems.
Chelation therapy helps prevent extra iron from damaging your organs. You get this treatment as a pill or shot. The medicine binds to iron in your body and removes it through your urine or a bowel movement.
Is The Cure For Genetic Beta Thalassemia Finally Within Reach?
UCSF Benioff Children's Hospital Oakland provides new therapy to first patient since FDA approval.
UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong blood transfusions and the risk of fatal organ damage. The Oakland hospital was one of three sites in the United States to host the trials for the Bluebird Bio therapy, which the U.S. Food and Drug Administration approved in August 2022. UCSF Benioff Oakland is now one of only 15 medical centers certified to provide the gene-therapy, Zynteglo, and is among the first to treat a patient. The 9-year-old Oakland patient received the single-infusion therapy on Aug. 15, 2023. If successful, the therapy could eliminate the need for further transfusions, enabling the child to produce healthy blood cells and lead a normal life. "This new therapy could be a life-changer for beta thalassemia patients, who have required cumbersome and expensive, lifelong monthly blood transfusions," said Mark Walters, MD, director of the pediatric Bone Marrow Transplant program at UCSF Benioff Oakland and chief of pediatric hematology at UCSF, who led the Oakland clinical trial. "The reason gene therapy is so exciting is that each person is their own donor," said Walters, a UC San Francisco professor of hematology. "We don't have to look for a brother or sister or alternate donor – we can use the patient's own blood stem cells." Healthy hemoglobin in 90% of patients Beta thalassemia is considered one of the most common rare diseases in the United States, affecting about 1,500 people nationwide. Because the disorder provides a natural resistance to malaria, it is widespread in areas of the world where malaria is prevalent and is most commonly found in individuals of Mediterranean, Middle Eastern and South Asian descent. It is normally detected by newborn screening, with treatment beginning in infants as young as 6 months old to overcome having too few red blood cells to sustain life. Patients also require regular treatment to reduce high levels of iron that result from the transfusions, potentially impacting the function of their heart, liver, and endocrine system organs like the pancreas and pituitary gland, which are needed for growth and development. The therapy involves removing some of the patient's blood stem cells and genetically engineering them to replace the defective gene that produces little or no hemoglobin – the protein used by red blood cells to carry oxygen to tissues throughout the body. After the corrected stem cells are prepared in the lab, the patient receives a strong dose of chemotherapy to kill existing blood cells harboring the thalassemia defect and make room for the newly rejuvenated blood. The new stem cells are then injected into the patient's bloodstream, where they will travel to the bone marrow and produce healthy blood. The process takes several months of close clinical monitoring to track the patient's blood count and detect potential infections following chemotherapy. In the clinical trial, which ended in March 2022, Walters and his colleagues found that the therapy produced healthy hemoglobin in 90% of patients. Since the trial ended, those patients have been able to discontinue other ongoing treatments for their condition.
About UCSF Benioff Children's HospitalsUCSF Benioff Children's Hospitals are among the nation's leading pediatric specialty hospitals, according to U.S. News & World Report 2023-24 rankings. Their expertise covers virtually all pediatric conditions, including cancer, heart disease, neurological disorders, pulmonology, diabetes and endocrinology, as well as the care of critically ill newborns. The two campuses in San Francisco and Oakland are known for basic and clinical research, and for translating research into interventions for treating and preventing pediatric disease. They are part of UCSF Health, whose adult hospital ranks among the top medical centers nationwide and serves as the teaching hospital for the University of California, San Francisco, a national leader in biomedical research and graduate-level health/sciences education. Visit https://www.Ucsfhealth.Org.
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Thalassemia: The Long Road From The Bedside Through The Laboratory To The Community
Cite this articleWeatherall, D. Thalassemia: the long road from the bedside through the laboratory to the community. Nat Med 16, 1112–1115 (2010). Https://doi.Org/10.1038/nm1010-1112
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