Thalassemia

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Thalassemia major

Thalassemia minor Read More Anemia Endocrine glands Hemoglobin Thalassemia is an blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells and anemia. See also:

Hemolytic anemia Sickle cell disease

Causes Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of these proteins. There are two main types of thalassemia:

Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

Alpha thalassemias occur most commonly in persons from southeast Asia, the Middle East, China, and in those of African descent. Beta thalassemias occur in persons of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:

Thalassemia major Thalassemia minor

You must inherit the defective gene from both parents to develop thalassemia major. Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and do not have symptoms. Beta thalassemia major is also called Cooley's anemia. Risk factors for thalassemia include:

Asian, Chinese, Mediterranean, or African American ethnicity Family history of the disorder

Symptoms The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth of the late stages of pregnancy). Children born with thalessemia major (Cooley's anemia)are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include:

Bone deformities in the face Fatigue Growth failure Liver and spleen swelling Shortness of breath Yellow skin (jaundice)

Persons with the minors form of alpha and beta thalassemia have small red blood cells (that can be seen under a microscope), but no symptoms. Exams and Tests A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.

Red blood cells will appear small and abnormally shaped when looked at under a microscope. A complete blood count (CBC) reveals anemia. A test called hemoglobin electrophoresis shows abnormal hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be detected with hemoglobin electrophoresis. Treatment Treatment for thalassemia major often involves regular blood transfusions and folate supplements. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful. Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove iron from the body. Bone marrow transplant may help treat the disease in some patients, especially children. Outlook (Prognosis) Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome. Less severe forms of thalassemia usually do not result in a shorter life span. Possible Complications Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections. Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver, and endocrine system. When to Contact a Medical Professional Call for an appointment with your health care provider if:

You or your child have symptoms of thalassemia

You are being treated for the disorder and new symptoms develop

Prevention Genetic counseling and prenatal screening may be available to those with a family history of this condition who are planning to have children. Alternative Names Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha thalassemia

What Is a Blood Transfusion?

A blood transfusion is a safe, common procedure in which blood is given to you through an intravenous (IV) line in one of your blood vessels.

Blood transfusions are done to replace blood lost during surgery or due to a serious injury. A transfusion also may be done if your body can't make blood properly because of an illness.

During a blood transfusion, a small needle is used to insert an IV line into one of your blood vessels. Through this line, you receive healthy blood. The procedure usually takes 1 to 4 hours, depending on how much blood you need.

Blood transfusions are very common. Each year, almost 5 million Americans need a blood transfusion. Most blood transfusions go well. Mild complications can occur. Very rarely, serious problems develop.

Important Information About Blood

The heart pumps blood through a network of arteries and veins throughout the body. Blood has many vital jobs. It carries oxygen and other nutrients to your body's organs and tissues. Having a healthy supply of blood is important to your overall health.

Blood is made up of various parts, including red blood cells, white blood cells, platelets (PLATE-lets), and plasma. Blood is transfused either as whole blood (with all its parts) or, more often, as individual parts.

Blood Types

Every person has one of the following blood types: A, B, AB, or O. Also, every person's blood is either Rh-positive or Rh-negative. So, if you have type A blood, it's either A positive or A negative.

The blood used in a transfusion must work with your blood type. If it doesn't, antibodies (proteins) in your blood attack the new blood and make you sick.

Type O blood is safe for almost everyone. About 40 percent of the population has type O blood. People who have this blood type are called universal donors. Type O blood is used for emergencies when there's no time to test a person's blood type.

People who have type AB blood are called universal recipients. This means they can get any type of blood.

If you have Rh-positive blood, you can get Rh-positive or Rh-negative blood. But if you have Rh-negative blood, you should only get Rhnegative blood. Rh-negative blood is used for emergencies when there's no time to test a person's Rh type.

Blood Banks

Blood banks collect, test, and store blood. They carefully screen all donated blood for possible infectious agents, such as viruses, that could make you sick. (For more information, see "What Are the Risks of a Blood Transfusion?")

Blood bank staff also screen each blood donation to find out whether it's type A, B, AB, or O and whether it's Rh-positive or Rh-negative. Getting a blood type that doesn't work with your own blood type will make you very sick. That's why blood banks are very careful when they test the blood.

To prepare blood for a transfusion, some blood banks remove white blood cells. This process is called white cell or leukocyte (LU-ko-site) reduction. Although rare, some people are allergic to white blood cells in donated blood. Removing these cells makes allergic reactions less likely.

Not all transfusions use blood donated from a stranger. If you're going to have surgery, you may need a blood transfusion because of blood loss during the operation. If it's surgery that you're able to schedule months in advance, your doctor may ask whether you would like to use your own blood, rather than donated blood.

If you choose to use your own blood, you will need to have blood drawn one or more times prior to the surgery. A blood bank will store your blood for your use.

Alternatives to Blood Transfusions

Researchers are trying to find ways to make blood. There's currently no man-made alternative to human blood. However, researchers have developed medicines that may help do the job of some blood parts.

For example, some people who have kidney problems can now take a medicine called erythropoietin that helps their bodies make more red blood cells. This means they may need fewer blood transfusions.

Surgeons try to reduce the amount of blood lost during surgery so that fewer patients need blood transfusions. Sometimes they can collect and reuse the blood for the patient.

What Are Blood Tests?

Blood tests help doctors check for certain diseases and conditions. They also help check the function of your organs and show how well treatments are working.

Specifically, blood tests can help doctors:

Evaluate how well organs, like the kidneys, liver, and heart, are working Diagnose diseases like cancer, HIV/AIDS, diabetes, anemia (uh-NEE-me-eh), and heart disease Learn whether you have risk factors for heart disease Check whether medicines youre taking are working

Overview

Blood tests are very common. When you have routine checkups, your doctor often orders blood tests to see how your body is working.

Many blood tests dont require any special preparations. For some, you may need to fast (not eat any food) for 8 to 12 hours before the test. Your doctor will let you know whether this is necessary.

During a blood test, a small amount of blood is taken from your body. Its usually drawn from a vein in your arm using a thin needle. A finger prick also may be used. The procedure is usually quick and easy, although it may cause some short-term discomfort. Most people dont have serious reactions to having blood drawn.

Lab workers draw the blood and analyze it. They use either whole blood to count blood cells, or they separate the blood cells from the fluid that contains them. This fluid is called plasma or serum.

The fluid is used to measure different substances in the blood. The results can help detect health problems in early stages, when treatments or lifestyle changes may work best.

However, blood tests alone cant be used to diagnose or treat many diseases or medical problems. Your doctor may consider other factors, such as your signs and symptoms, your medical history, and results from other tests and procedures, to confirm a diagnosis.

Outlook

Blood tests have few risks. Most complications are minor and go away shortly after the tests are done.

What Are Thalassemias?

Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. "Inherited" means they're passed on from parents to children through genes.

Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.

People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.

Overview

Normal hemoglobin, also called hemoglobin A, has four protein chainstwo alpha globin and two beta globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein chains.

Four genes are needed to make enough alpha globin protein chains. Alpha thalassemia trait occurs when one or two of the four genes are missing. If more than two genes are missing, the result is moderate to severe anemia.

The most severe form of alpha thalassemia is known as alpha thalassemia major or hydrops fetalis. Babies with this disorder usually die before or shortly after birth.

Two genes (one from each parent) are needed to make enough beta globin protein chains. Beta thalassemia occurs when one or both genes are altered.

The severity of beta thalassemia depends on how badly one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia also is known as thalassemia major or Cooley's anemia.

Thalassemias affect both males and females. They occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions.

Doctors diagnose thalassemias using blood tests. The disorders are treated with blood transfusions, medicines, and other procedures.

Outlook

Treatments for thalassemias have improved greatly in the past few years. People who have moderate and severe thalassemias are now living longer and have better quality of life than before.

However, complications from thalassemias and their treatments are frequent. People who have moderate or severe thalassemias must closely follow their treatment plans. They need to take care of themselves to remain as healthy as possible.