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Home , Beta thalassemia, Thalassemia

An Introduction

to Beta- Intermedia

written by Marie B. Martin, RN and Craig Butler This brochure is intended to answer some basic questions about beta-thalassemia intermedia and help parents understand what to expect if their child has been diagnosed with thalassemia intermedia.

What is beta-thalassemia intermedia? How did my child get it? Beta-thalassemia intermedia is a genetic (or Thalassemia intermedia is an inherited disease. “inherited”) disorder that is sometimes In order for a child to get thalassemia called Cooley’s or Mediterranean or intermedia, both parents must carry the trait sometimes simply called thalassemia. Beta- for thalassemia. If both parents carry the trait thalassemia intermedia, the milder form of the (also known as “thalassemia minor”), there is a disorder, reduces the body’s ability to produce 1-in-4 chance with each pregnancy that the “adult” and causes anemia. Your child will be born with the severe form of the child is missing one of the “ingredients” to disease. make normal adult hemoglobin. Hemoglobin is a part of the . People who carry the thalassemia trait do not have ill effects from the carrier state and Thalassemia intermedia is less clinically severe usually are unaware that they carry it. They than beta-thalassemia major. Often, people may be told that they are slightly anemic and just use the term “thalassemia” to refer to any have “small red blood cells”. person with either thalassemia intermedia or thalassemia major. The distinction is the need Is it my fault? for chronic red blood cell transfusions for No. Just as you cannot control what color eyes “major” and no or intermittent transfusions for your child will inherit, you cannot control intermedia. (The DNA testing that helps whether your child will inherit thalassemia. You determine thalassemia cannot reliably predict can, however, be tested prior to pregnancy whether a child is major or intermedia; that then review the results with a genetic determination is dependent upon the counselor. transfusion needs of the individual.) What is the treatment? Unlike in thalassemia major, where the degree of severity of anemia is more uniform from patient to patient, there is a great deal of if... variation in the severity of the anemia

ß - ß -

both parents carry the trait, ...then 25% there is a 25% chance 25% 50% thalassemia major or with each pregnancy intermedia that their child will inherit two abnormal beta globin , resulting in thalassemia major or ßß ß - thalassemia intermedia.

normal beta thal hemoglobin trait - -

Cooley’s Anemia Foundation associated with thalassemia intermedia. All “hyperactivity” affects the bones themselves, patients with thalassemia intermedia and can cause them to become distorted, experience some form of decreased hemoglobin thinner and more easily broken. This levels. hyperactivity also can lead to a need for greater intake of certain vitamins, such as folic In children with thalassemia intermedia, there acid, vitamin D and calcium. are many decisions to be made by the health care team and the family in terms of Often, the decides it needs help transfusion. Frequently, your child’s doctor will in creating all of these excess blood cells, and only give transfusions if the hemoglobin falls so other parts of the body that don’t normally below a certain value on several occasions. create blood cells – such as the chest area and Other times the team will decide to give the spine - are called upon to join in. chronic transfusion for a certain time period and then re-evaluate. These decisions depend If bone marrow activity and changes in skeletal on the well–being of your child and how he or structure become significant and result in she feels. It is hard to predict in what category symptoms, the patient may be a candidate for your child will fall; therefore, the child will chronic transfusion therapy. require frequent check-ups with your doctor. What are some of the complications that may Some patients are able to function normally at develop with thalassemia intermedia? lower hemoglobin levels; however, it is There are a number of complications that may important that a minimum hemoglobin level be or may not occur, depending upon the severity maintained in order to prevent complications of the anemia and upon the course of (see below). treatment that is best for your child.

If my child is not frequently transfused, what Let’s assume your child does not require happens? transfusions. You may notice some “bony Your child’s red blood cells don’t live as long as changes” in the face; the forehead or the cheek normal red blood cells and when they “die,” bones may appear to protrude, or he or she the iron they carry is deposited in the organs. may appear to have “buck teeth”. These Your child’s body is trying to make up for its changes are due to the bone marrow working low hemoglobin by creating many more red extra hard to make red blood cells. This extra blood cells than is typical – and thus depositing work causes the cells to “expand” in these more iron. The “dead” red blood cells are areas. As your child gets older, he or she may destroyed in the , a filtration system for experience broken bones more easily. Again, the body. As the spleen absorbs all the old this is due to the extra work in the bone blood, it grows, and the abdomen will look big. marrow. When the spleen gets big, the hemoglobin goes down because the cells are being filtered in the Some patients develop hypersplenism, if their spleen. Sometimes, if the spleen is removed, bodies attempt to create more red blood cells the hemoglobin will go back up one to two outside the bone marrow. grams. Although thalassemia intermedia are not If a child does not have regular transfusions, chronically transfused as are thalassemia major the bone marrow must overcompensate to patients, they still may develop . make enough red blood cells to maintain an They therefore should avoid foods with high adequate level of hemoglobin. (Think of the iron concentrations and iron supplements. If bone marrow as a factory always working their iron levels reach a certain level, iron overtime.) may be required.

When the bone marrow has to work overtime to , impaired growth, create more and more red blood cells, this and may also occur in older

Cooley’s Anemia Foundation children with thalassemia intermedia. There is cells. You should also monitor your child’s also some evidence that thalassemia intermedia growth process, as well as report any patients, especially those who have had their complaints of pain in his/her bones. removed, may have a slightly greater risk of blood clots. Where can I turn for help? The Cooley’s Anemia Because there are so many potential Foundation is always ready to complications associated with thalassemia, provide you with the patients should undergo an annual information you need to deal “comprehensive care evaluation.” This should with thalassemia. Please be performed at a Thalassemia Center of contact us at Excellence, each of which has a team of (800) 522-7222 experts from different disciplines with or significant experience in thalassemia. [email protected].

Are there treatments that can increase my The Thalassemia Centers of hemoglobin so that I don’t have to get Excellence have the most transfused? highly trained thalassemia Some experiments with chemotherapy classes experts in the country. of drugs, such as hydroxyurea, have increased They are located at: the amount of in a patient, possibly increasing the baseline hemoglobin one Children’s Hospital Boston to two grams or reducing transfusion Children’s Hospital Los Angeles requirements. Children’s Hospital Oakland Children’s Hospital of Philadelphia Some patients have been prescribed drugs such Children’s Memorial Hospital (Chicago) as Procrit or Aranesp, that stimulate the Weill Medical College of Cornell University creation of red blood cells; however, red blood (New York) cells created in this manner still contain defective hemoglobin. As a result, the patient Many other hospitals are “satellite centers” simply makes more “defective” red blood cells, affiliated with these Centers. Please contact which do not alleviate the anemia. the Cooley’s Anemia Foundation for a list of these satellite centers. Other medical therapies are being explored which attempt to increase the hemoglobin via Published by the Cooley’s Anemia Foundation, means other than transfusion. At the current 330 Seventh Ave., #900, New York, NY 10001 time, however, transfusion remains the most www.cooleysanemia.org (800) 522-7222 effective way of raising or maintaining This publication is made possible by an unrestricted educational grant from Novartis Pharmaceuticals. hemoglobin levels for most patients.

What things should I look out for? If you notice your child looking especially pale or (yellow) or if they are sleepier than usual, call your care center. This may mean that your child is more anemic than usual. These symptoms may be seen if your child is The information in this publication is for educational sick or has a fever. If an older child complains purposes only and is not intended to substitute for medical advice. You should not use this information to diagnose or of upper abdominal (belly) pain, especially treat a health problem or disease without consulting a after eating fatty foods, you should contact qualified health care provider. The Cooley’s Anemia your treatment center, as your child may be Foundation strongly encourages you to consult your health developing gallstones. This happens because of care provider with any questions you may have regarding (breaking down) of the red blood your condition.

Cooley’s Anemia Foundation