Thalassemia

Description

Thalassemia (thal-uh-SEE-me-uh) is a disorder of the blood. It is inherited, which means it is passed down from parents to children through genes. The Genes that carry the information that can affect many things, including what people look like and if they might have certain diseases.

Thalassemia causes the body to have less of the protein hemoglobin than normal. Hemoglobin is present in red blood cells and allows the red blood cells to carry oxygen. You do not have enough hemoglobin or red blood cells can lead to a condition called anemia. That can make you feel tired and weak.

If you have a mild form of thalassemia called thalassemia, which does not need any specific treatment. But with more severe forms, you may need regular blood transfusions. These are the treatments that receives blood from a donor. Lifestyle changes are also key. For example, a healthy diet and regular exercise can help manage fatigue.

Symptoms

There are different types of thalassemia. The symptoms you have frompend on the type and how severe it is.

The symptoms of thalassemia major may include:

  • The tiredness, also called fatigue.
  • The weakness.
  • A change in the color of the skin or yellowing of skin and eyes.
  • Changes or problems with the bones of the face.
  • Of slow growth.
  • Swelling of the stomach zone, also called the abdomen.
  • Dark-colored urine.
  • The lack of appetite.

Some infants show symptoms of thalassemia at birth. Other symptoms during the first two years of life. But some people with thalassemia have no symptoms.

When to see a doctor

Make an appointment of your child's health care team for a checkup if your child has any of the symptoms of thalassemia.

Causes

Thalassemia is caused by changes in genes in the cells that make hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. The changes in the genes linked with thalassemia are passed from parents to children.

Hemoglobin molecules are chains of proteins called alpha and beta chains. These chains are affected by changes in the genes. With thalassemia, the body not to do in thed'oh of the alpha or beta chains. That causes you to get alpha-thalassemia or beta-thalassemia, the two main types of the disease.

In beta-thalassemia, the mutation is an alteration in the DNA. Other terms used to describe these changes include mutation or variation. In alpha-thalassemia, the alteration of DNA consists in the lack of one or more exemplary of the four genes that program the alpha chain. This is also called "elimination."

With alpha-thalassemia, the severity of the disease depends on the number of missing genes are inherited from their parents. More than lack of copies of the genes, the worst of his thalassemia.

With beta-thalassemia, the severity of the illness depends on which part of the hemoglobin molecule is affected.

Alpha-thalassemia

Four genes are involved in the decision of the alpha-hemoglobin chain. You get two of each of their parents. The severity of alpha-thalassemia depends on the number of copies of the genes that are missing:

  • If a copy of the gene is missing, it will not have symptoms of thalassemia. But the carrier of the disease and can pass it on to their children.
  • If two copies of the gene are missing, his thalassemia symptoms will likely be mild. You can hear this condition called alpha-thalassemia.
  • If three copies of the genes that are missing, the symptoms will probably be moderate to severe.

It is unlikely that in the absence of the four copies of the genes. This generally leads to fetal death. The loss of a pregnancy or after 20 weeks. Babies born with four missing genes often die shortly after birth. Or who need blood transfusions for the rest of their lives. Sometimes, a child born with this condition can be treated with blood transfusions and stem cell transplantation.

Beta-thalassemia

Two genes are involved in the making of the beta hemoglobin chain. You get one of each of their parents. Unlike the lack of the genes that cause alpha-thalassemia, small changes in the gene that causes beta-thalassemia. These changes lead to the reduction of the production of the beta chain. If you inherits:

  • One of the gene with the changes, which are generally of mild symptoms. This condition is called nontransfusion-dependent thalassemia. If you have no symptoms, you can hear its condition called beta-thalassemia or thalassemia minor.
  • Two genes with changes,the symptoms tend to be moderate to severe. This condition is called transfusion-dependent beta-thalassemia or thalassemia major. Babies who are born with two changed beta-hemoglobin genes are usually healthy at birth. Often the symptoms within the first two yearsof life. But it is possible to obtain a milder form of the disease, with two altered genes.

Two genes with changes, their symptoms tend to be mild to severe. This condition is called transfusion-dependent beta-thalassemia or thalassemia major.

Babiis born with two changed beta-hemoglobin genes are usually healthy at birth. Often the symptoms within the first two years of life. But it is possible to obtain a milder form of the disease, with two altered genes.

Risk factors

Factors that can increase the risk of thalassemia are:

  • The family history of thalassemia. The condition passed on from parents to their children through genetic changes in the genes of hemoglobin.
  • Certain ascendancy. Thalassemia occurs most frequently in people of South Asian, Italian, Greek, Middle-Eastern or of African descent.

Complications

Health problems that can result from moderate to severe thalassemia include:

  • The iron overload. People with thalassemia can get too much iron in their bodies. This may be due to the disease or to frequent blood transfusions. Also much iron can result in damage to the heart, liver, and glands that produce and release hormones.
  • Infection. People with thalassemia have an increased risk of infections. This is especially true if they have had their spleens removed.

Severe thalassemia can cause the following health problems:

  • Changes in the bone. Thalassemia can cause the spongy tissue inside some bones, called bone marrow, to expand. That causes the bones to widen. This can lead to an irregularity of the bone structure, especially on the face and the skull. The expansion of bone marrow also makes bones thin and brittle. That increases the chance of bone fractures.
  • Enlargement of the spleen.The spleen is an organ that helps the body fight the infection. It also helps to remove the old or damaged blood cells. Often, the thalassemia occurs along with the destruction of a large number of red blood cells. This causes the spleen to enlarge and the job more difficult than usual. An enlarged spleen can make anemia worse. It can also reduce the life span of the red cells of the blood received in a transfusion. If the spleen grows too large, your hhealth care professional may recommend surgery to remove it.
  • Slowed growth rates. Anemia can slow a child's growth and delayed puberty.
  • The problems of the heart. Congestive heart failure and irregular heart rhythms may be associated with severe thalassemia.

Enlargement of clientit is. The spleen is an organ that helps the body fight the infection. It also helps to remove the old or damaged blood cells. Often, the thalassemia occurs along with the destruction of a large number of red blood cells. This causes the spleen to enlarge and the work harder than usual.

An enlarged spleen can make anemia worse. It can also reduce the life span of the red cells of the blood received in a transfusion. If the spleen grows too large, your health care professional may recommend surgery to remove it.

Prevention

Most of the times, you can't prevent thalassemia. If you have the disease or if you have thalassemia gene changes that cause them, it is very important to speak with a genetic counselor. The advisor can offer advice on the risks that their children may be affected.

Some people with thalassemia major to think about getting pregnant with assisted reproductive technology. This includes procedures such as in vitro fertilization. IVF joins an egg cell and a sperm outside the body to make the earliest stage of a baby is not born, called an embryo. A test that is called preimplantation genetic testing can then be used to verify the embryo of the changes in genes associated with thalassemia. If an embryo does not have these changes, it can be placed in the uterus to initiate a pregnancy. This could help people who have thalassemia or a gene linked to having a healthy baby.

Another procedure that can lead to a pregnancy is called intrauterine insemination. The sperm of a donor that does not have thalassemia or of the genes associated with the condition, which is placed in the uterus to join with an egg.

Thalassemia

Diagnosis

The majority of children with moderate to severe thalassemia show symptoms in their first two years of life. If your child's health care professional thinks your child may have thalassemia, blood tests can confirm.

The blood test can reveal the number of red blood cells and irregular changes in their shape, size, or color. Blood tests can also be used to identify changes in genes in the DNA.

Prenatal testing

Testing can be done before the baby is born to find out if the baby has thalassemia. The test can also determine the severity of the condition may be. The tests used to find thalassemia in unborn babies include:

  • Chorionic villus sampling. This test involves removing a small sample of the placenta. The placenta is the organ that has the form during pregnancy to give to a baby of oxygen and nutrients in the womb. Once removed, the placenta of the sample is marked by a laboratory. Most often, it's performed around the 11th week of pregnancy.
  • The Amniocentesis. This test involves the testing of a sample of the fluid that surrounds the fetus in the uterus. The test is usually performed at about 16 weeks of pregnancy.

Treatment

Mild forms of thalassemia do not need treatment.

Moderate to severe thalassemia, the treatments may include:

  • Frequent blood transfusions. It is common that you need. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in the blood. That can damage the heart, liver, and other organs.
  • The chelation therapy.This treatment removes extra iron in the blood. Iron ca build up due to regular transfusions. Some people with thalassemia who do not have regular transfusions can also develop excess iron. Remove the excess iron is vital for your health. To help rid your body of excess iron, you might need to take medicine by the mouth. The medications include deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug called deferoxamine (Desferal) is given through a needle placed into a vein.
  • Other medications.A drug administered by injection called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can decrease the risk of developing other health problems because of the thalassemia.
  • The transplantation of stem cells.This is also called a bone marrow transplant. Sometimes, you can be a treatment option. For children with severe thalassemia, you can get rid of the need for lifelong blood transfusions and medications for the control of iron overload. A stem cell transplant involves receiving infusions of stem cells from a donor with the match- ing cells, often a healthy brother.

The chelation therapy. This treatment removes extra iron in the blood. Iron can accumulate due to regular transfusions. Some people with thalassemia who do not have regular transfusions can also develop excess iron. Remove the excess iron is vital for your health.

To help the body to get rid of the extra iron, you may need to take medicine by mouth. The medications include deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug called deferoxamine (Desferal) is given through a needle placed into a vein.

Other medications. A drug administered by injection called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) may decrease the risk of getting other health problems because of the thalassemia.

The transplantation of stem cells. This is also called a bone marrow transplant. Sometimes, you can be a treatment option. For children with severe thalassemia, you can get rid of the need for lifelong blood transfusions and medications for the control of iron overload.

A stem cell transplant involves receiving infusions of stem cells from a donor with matching cells, often a healthy brother.

Self-care

Follow your treatment plan for thalassemia and practice these healthy habits.

  • Do not take in able to goin. Do not take vitamins or other supplements that contain iron, unless your healthcare provider recommends them. Also, ask if you should limit foods that have a lot of iron. These include meat, fish, spinach, and some cereals and orange juices.
  • Eat aalthy diet.Eating healthy can help you feel better and increase your energy. Your health care professional may also recommend a supplement of folic acid. This helps your body to produce new red blood cells. To keep bones healthy, make sure you get enough calcium and vitamin D. Ask your health care team what is the right quantities are for you and if you need a supplement.
  • Decrease the risk of infections.Wash your hands often, and stay away from sick people. This is key, especially if you have had your spleen removed. Keep up to date with the flu and COVID-19 vaccines. Also get vaccines to prevent meningitis, pneumonia, and hepatitis B. If you have a fever or has other symptoms of an infection, see your health professional for treatment.
  • Get regular exercise. If you're not active now, ask your health care team to help you get started. You might be told to try heart-healthy aerobic exercise, such as walking, biking or jogging. If you have joint pain, you can try gentle activities like yoga, swimming, or water aerobics.

Eat a healthy diet. Eating healthy can help you feel better and increase your energy. Your health care professional may also recommend a supplement of folic acid. This helps your body to produce new red blood cells.

To maintain healthy bones, make sure that you get enough calcium and vitamin D. Ask your health care team what is the right quantities are for you and if you need a supplement.

Decrease the risk of infections. Wash your hands often, and stay away from sick people. This is key, especially if you have had your spleen removed.

Keep up to date with the flu and COVID-19 vaccines. Also get vaccines to prevent meningitis, pneumonia, and hepatitis B. If you have a fever or has other symptoms of an infection, see your health professional for treatment.

Coping and support

If you or your child has thalassemia, seek help when needed. A member of your health care team can answer your questions or offer advice.

You could also think about joining a support group. This helps you to meet other people affected by thalassemia. You can listen to your experiences, and that might be able to offer you helpful information. Ask a member of your health care team about the groups in your area.

Preparing for your appointment

Most often, tests to find moderate to severe forms of thalassemia in the first two years of life. If you've noticed that some of the symptoms of thalassemia in your baby or child, please consult your child's pediatrician or tthat the health care professional that you take care of your family. You may be referred to a doctor who finds and treats disorders of the blood, called a hematologist.

Here's some information to help you prepare for your appointment.

What you can do

Make a list of:

  • The child symptoms. Include any that do not seem to be related to the reason for the review. Also note when the onset of symptoms.
  • The members of the family who have had thalassemia.
  • All the drugs, vitamins, and other supplements that your child takes. Include the amount of each one, called the dose.
  • Questions to ask your health care professional.

For thalassemia, some questions to ask your health care team include:

  • What is the most likely cause of the symptoms of my son?
  • There are other possible causes?
  • What kind of proof do you need?
  • The treatments are available?
  • What treatments are recommended?
  • What are the most common side effects of each treatment?
  • How can this best be managed with other health conditions?
  • There are restrictions in the diet to follow? Do you recommend supplements?
  • There are printed materials that you can give me? What sites do you recommend?

Feel free to ask other questions that you may have.

What to expect from your doctor

Your healthcare provider will likely ask questions such as:

  • The symptoms occur all the time or come and go?
  • How bad are the symptoms?
  • Does nothing seem to symptoms better?
  • What, if anything, appears to worsen your symptoms?
Symptoms and treatment of Thalassemia