Beta Thalassemia

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by hadiaa
Last updated 6 years ago

Health & Fitness

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Beta Thalassemia

Thalassemia major is inherited by an autosomal recessive gene on chromosome 11, which means that two copies of the gene are necessary to produce the condition, one inherited from each of two carrier parents who have thalassemia minor. It's most often found in persons who are of Mediterranean ancestry (Greek or Italian). Each child of two carrier parents is at 25 percent risk for the disease.

How is it passed from parent to child?

Beta Thalassemia

How do you know you have it?Finding out if you carry thalassemia trait is not hard. First, ask your physician to look at the MCV (Mean Corpuscular Volume) of your CBC (Complete Blood Count). If the MCV is 80 or less, and if you are NOT iron deficient, then you may have thalassemia trait. Other blood tests, called a hemoglobin electrophoresis (a lab procedure that differentiates the types of hemoglobin present) can then verify your trait status. All of these studies can be performed from a single blood sample. You cannot control whether your child will inherit thalassemia. The disease can develop if only one parent has abnormal genes. However, being tested for the trait prior to pregnancy enables a couple to review the results and options with a genetic counselor.

Beta Thalassemia is caused by mutations in the beta chain of the hemoglobin molecule, a pigment needed to carry oxygen to the tissues of the body. There is one beta gene on every chromosome #11 for a total of two; Beta Thalassemia Major has deletions on both genes, making it the most sever case of thalassemia.

AKA "Cooley's Anemia"

SYMPTOMS YOU SHOULD NOTICE:• Your child’s color (Is he or she pale?)• If your child is gaining weight• If your child’s appetite is decreasing• If his or her belly looks bigger• If your child is crying a lot• Irritability • Poor growth• Increased sleepiness/fatigue• Increased infections

IS THERE A CURE?Specific treatment for Cooley's anemia will be determined by your child's physician based on the following:•your child's age, overall health, and medical history•extent of the disease•child's tolerance for specific medications, procedures, or therapies•expectations for the course of the disease•your opinion or preferenceTreatment for beta thalassemia may include:•regular blood transfusions•medications (to decrease amount of iron in the body, called chelation therapy)•surgical removal of the spleen (if necessary)•daily doses of folic acid•possible surgical removal of the gallbladder•no iron supplements•bone marrow transplantation

Chronic red blood cell transfusions will begin when your child’s hemoglobin is low, or if the child’s growth slows, or if the spleen and liver are enlarged. A needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood from a donor. The procedure usually takes 1 to 4 hours.

The U.S. Food and Drug Administration (FDA) have approved the drug, Ferriprox that helps patients battling Cooley's anemia (thalassemia). Administered orally, Ferriprox helps rid the body of excess iron, a serious and often fatal complication for thalassemia patients, who require lifelong blood transfusions as often as every two weeks.

Another treatment available is Bone Marrow Transplant. A small amount of bone marrow is removed during a bone marrow aspiration. The procedure is uncomfortable, but can be tolerated by both children and adults. If there is a “matched sibling,” you and the treatment center staff will review the options. If you choose bone marrow transplant, your family will be referred to a doctor who is responsible for the procedure.

Some concerns related to these medical proedures include fever and allergic reactions. Allergic reactions are due to proteins in the blood plasma, which can be corrected by washing the donated blood. Fever can be corrected by removing white cells from donated blood, which is now standard practice. There is a risk of viral infections with transfusions, but the likelihood of transmission is very small because the supply of blood in the U.S. is thoroughly screened. The most well known viruses are hepatitis C and HIV.


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