Increased understanding of thalassemia and careful medical management have transformed a disease that once was usually fatal into a chronic illness that requires varying degrees of medical care.
Treatments for thalassemia range for each form of the illness. Milder versions of the disorder may call for no treatment except medical monitoring and perhaps genetic counseling as patients approach adulthood. More serious forms of thalassemia may require occasional or regular blood transfusions and chelation therapy to remove excess iron. Sometimes removal of the spleen is indicated.
Careful monitoring of thalassemia patients, particularly those who have significant anemia or who require regular transfusions, is essential to preserve health and well-being. In addition to hematologists, thalassemia patients may require the care of a number of medical specialists who understand the disease and its particular implications. Specialists may include: cardiologists, endocrinologists, gastroenterologists, audiologists, ophthalmologists, infectious disease specialists, bone marrow transplant physicians and genetic counselors.
Treatments for thalassemia may include:
• Transfusion
• Chelation therapy
• Genetic counseling
• Stem cell transplantation
• Transfusion
Patients with thalassemia major receive regular blood transfusions in our outpatient transfusion unit. They are seen at these visits by the nurse practitioner who works full-time with our team and by Dr. Cunningham, the Director of the Thalassemia Program.
• Chelation therapy
Blood transfusions, essential for the survival of some people with thalassemia, can cause an excess of iron in the body. Chelation, a treatment to remove this extra iron, is necessary to prevent the significant complications that can result from iron overload. Presently, chelation with subcutaneous (under the skin) deferoxamine is the only approved chelation or iron-binding therapy in this country. A promising new oral iron chelator, deferasirox (Exjade®), has been studied at many centers, including Children's Hospital Boston, and the data have been submitted to the FDA for approval. If this is approved, it would allow patients to take a medication by mouth to get rid of the extra iron.
• Genetic counseling
The Thalassemia Program offers genetic counseling to patients and families with thalassemia syndromes who are planning to have children. This helps clarify the possible genetic combinations and the likelihood of having a child with a severe form of the disease. We also work closely with the geneticists and in vitro fertilization experts at Brigham and Women's Hospital to provide pre-implantation genetic diagnosis (determining the genetics of the fertilized embryo) or standard prenatal diagnosis, to parents who choose this service.
• Stem Cell Transplantation
Patients who have severe forms of thalassemia and a sibling who is a bone marrow match can be treated and cured with a hematopoietic stem cell transplant (HSCT). Many people have heard of bone marrow transplant (BMT), which is a form of HSCT. HSCT is a very complex treatment, and not all children with thalassemia are candidates for this therapy. This treatment requires a genetically-matched sibling donor and carries the typical risks associated with stem cell transplantation. We recommend that all patients with thalassemia major and siblings have testing to determine if there is a match, and then evaluate the risks and benefits to make an informed decision.
If families decide to pursue stem cell transplantation, we will arrange a meeting with the Dana-Farber/Children's Hospital Cancer Care Pediatric Stem Cell Transplantation Program. Its stem cell transplantation team, which includes pediatric specialists from Dana-Farber Cancer Institute and Children's Hospital Boston, performs approximately 80 transplants each year.
Treatments for thalassemia range for each form of the illness. Milder versions of the disorder may call for no treatment except medical monitoring and perhaps genetic counseling as patients approach adulthood. More serious forms of thalassemia may require occasional or regular blood transfusions and chelation therapy to remove excess iron. Sometimes removal of the spleen is indicated.
Careful monitoring of thalassemia patients, particularly those who have significant anemia or who require regular transfusions, is essential to preserve health and well-being. In addition to hematologists, thalassemia patients may require the care of a number of medical specialists who understand the disease and its particular implications. Specialists may include: cardiologists, endocrinologists, gastroenterologists, audiologists, ophthalmologists, infectious disease specialists, bone marrow transplant physicians and genetic counselors.
Treatments for thalassemia may include:
• Transfusion
• Chelation therapy
• Genetic counseling
• Stem cell transplantation
• Transfusion
Patients with thalassemia major receive regular blood transfusions in our outpatient transfusion unit. They are seen at these visits by the nurse practitioner who works full-time with our team and by Dr. Cunningham, the Director of the Thalassemia Program.
• Chelation therapy
Blood transfusions, essential for the survival of some people with thalassemia, can cause an excess of iron in the body. Chelation, a treatment to remove this extra iron, is necessary to prevent the significant complications that can result from iron overload. Presently, chelation with subcutaneous (under the skin) deferoxamine is the only approved chelation or iron-binding therapy in this country. A promising new oral iron chelator, deferasirox (Exjade®), has been studied at many centers, including Children's Hospital Boston, and the data have been submitted to the FDA for approval. If this is approved, it would allow patients to take a medication by mouth to get rid of the extra iron.
• Genetic counseling
The Thalassemia Program offers genetic counseling to patients and families with thalassemia syndromes who are planning to have children. This helps clarify the possible genetic combinations and the likelihood of having a child with a severe form of the disease. We also work closely with the geneticists and in vitro fertilization experts at Brigham and Women's Hospital to provide pre-implantation genetic diagnosis (determining the genetics of the fertilized embryo) or standard prenatal diagnosis, to parents who choose this service.
• Stem Cell Transplantation
Patients who have severe forms of thalassemia and a sibling who is a bone marrow match can be treated and cured with a hematopoietic stem cell transplant (HSCT). Many people have heard of bone marrow transplant (BMT), which is a form of HSCT. HSCT is a very complex treatment, and not all children with thalassemia are candidates for this therapy. This treatment requires a genetically-matched sibling donor and carries the typical risks associated with stem cell transplantation. We recommend that all patients with thalassemia major and siblings have testing to determine if there is a match, and then evaluate the risks and benefits to make an informed decision.
If families decide to pursue stem cell transplantation, we will arrange a meeting with the Dana-Farber/Children's Hospital Cancer Care Pediatric Stem Cell Transplantation Program. Its stem cell transplantation team, which includes pediatric specialists from Dana-Farber Cancer Institute and Children's Hospital Boston, performs approximately 80 transplants each year.
Stem cell transplantations are performed in the 13-bed pediatric stem cell transplantation unit at Children's Hospital Boston, while new patient, consultative services and post-transplant care appointments take place at Dana-Farber Cancer Institute's Jimmy Fund Clinic.
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