Top 10 Questions Families Ask About Thalassemia
- What is Thalassemia? Thalassemia is a group of genetic blood disorders than cause severe anemia.
- What are they types of Thalassemia? There are three types of thalassemia - thalassemia minor/trait, thalassemia intermedia, and thalassemia major. A person with thalassemia minor or thalassemia trait simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. A person with thalassemia intermedia has a moderately severe anemia. There is a wide range in the clinical severity of this condition. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive. Most intermedia patients do become transfusion dependent in order to avoid the complications associated with chronic anemia. Individuals with thalassemia major or Cooley's Anemia have a severe anemia that requires regular blood transfusions (every 2-4 weeks) beginning early in childhood. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent organ failure. It is important to prepare to anticipate the child you are adopting is beta thalassemia major as figure out if it is something your family can manage. Some children are listed as being minor or intermedia and come home and DNA tests show they are beta major. Only a DNA test can fully determine which form of thalassemia a child has.
- What is the life expectancy of a child with Thalassemia? The answers are unknown and largely depend on the form of thalassemia and the medical care a patient is receiving. In years past and even presently in some countries with inadequate medical treatment it can be childhood to early adult years. However, in the United States medical advancements peopla are living in to their 40’s, 50’s and 60’s. It is unknown what the future holds for people with thalassemia. People with thalassemia minor have a normal life expectancy and that is becoming the reality for intermedia and major patients as well.
- What is the typical medical care involved for a child with Thalassemia? It can range from minor which requires essentially no extra medical care to major patients who spend ½ to a full day every 2 to 4 weeks at a hematology clinic receiving a blood transfusion. Thalassemia major patients need an annual MRI to measure their iron overload, audiology testing, and EKG/echocardiogram as well as annual visits with a cardiologist and endocrinologist. They receive daily iron chelation therapy to keep their iron levels low. It really depends on the patient and their individual case. It is strongly encouraged that patients with intermedia and major forms of thalassemia see a thalassemia specialist annually at one of the Thalassemia centers around the country, some do phone consultations.
- What is the cost of medical care? This varies greatly based upon health insurance. Review your health insurance plan to determine what your costs would be. Many states have Medicaid plans, CHIP, and/or waivers that a child with Thalassemia may qualify for. It can be expensive especially if your medical plans have high co-pays, deductibles and out-of-pockets.
- What is daily living with a child with beta Thalassemia major like? Absolutely normal!! Other than giving medication and watching iron content of foods (which becomes habit) they live full and happy lives. Children with thalassemia play sports, go to school, dance and are just typical children. When they are close to needing a transfusion they can tire easily. We have some added mood swings and crabbiness close to transfusion time. Can a child with Thalassemia play sports? Yes, absolutely. Some children have medi-ports that can be sensitive or a consideration for contact sports.
- Is there a cure? Yes, right now the only cure for thalassemia is bone marrow transplant. With the highest success rates for bone marrow transplant being with sibling bone marrow donors. However, gene therapy is currently in clinical trials and appears to be a promising cure in the horizon using each thalassemia patient’s own stem cells.
- Are there diet concerns? People with intermedia and major thalassemia live in an anemic state and as a result their body seeks out iron in foods in order to boost hemoglobin production. Patients with intermedia forms of thalassemia have the hardest time with it. Limiting red meats and iron fortified foods can assist in this. Otherwise, people with thalassemia eat a normal diet. It is important to keep well hydrated as well.
- Are there any other medical conditions that can be caused by or related to thalassemia? Iron overload can cause complications with the major organs.
- What is a typical transfusion day like? It depends on where your child is treated and transfused. Some families go a day or two before for lab work including type and cross for matching blood and then return for their blood transfusion a day or two later. Others do it all in one day and spend a full day the hospital or clinc. A transfusion typically takes 3-4 hours depending upon the amount of blood transfused and the lab work and then unit of blood take a couple of hours to prepare. Some places do it in the evenings and even on weekends. It is a good idea to reach out to a local hematologist who treats Thalassemia to find out how their clinic works it.
The Thalassemia adoption community is amazing! They are on both Yahoo and Facebook groups. We share information and support to each other. There is always someone happy to hold your hand or give you a shoulder when you need it. Or, answer a question or weigh in on a decision you need to make. And when you see these “terminal” orphans transform in to sons and daughters, with their lives in front of them to thrive, grow and live it is truly amazing! RainbowKids has contact information within the thalassemia adoption community, please ask as no question is too small.
Additionally, Cooley’s Anemia Foundation provides much support and resources to all patients and families living with Thalassemia. You can learn more at www.thalassemia.org