Thalassemia; Evaluation of symptoms, causes and treatment methods

Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin and red blood cells. A person with thalassemia has a very small number of red blood cells and hemoglobin, and the remaining red blood cells may be very small. This condition occurs in some people mildly and in some severely, in which case it can be life threatening. About 100,000 babies are born with severe thalassemia each year. The disease is more common in the Mediterranean, South Asian and African races. Follow us by introducing the types, symptoms, causes, methods of diagnosis and treatment of thalassemia.

Different types of thalassemia

Red blood cells

Thalassemia exists in two main types, alpha and beta, which we will explain in full below:

Alpha Thalassemia

In alpha thalassemia, hemoglobin does not produce enough alpha protein. This type of thalassemia is common in Africa, the Middle East, India, Southeast Asia, and southern China, but is less common in the Mediterranean. In general, there are four types of alpha thalassemia, which are divided into mild to severe. In fact, you get two genes from your father and two genes from your mother, and the severity of thalassemia depends on the number of genes that are defective or mutated. If any of the genes you inherit:

Be a defective gene: You have no symptoms but you are considered a carrier of the disease; This means that you can pass thalassemia to your children.

Two genes are defective: You have mild thalassemia. This condition may also be known as alpha thalassemia minor.

Three genes are defective: To hemoglobin H disease You have (chronic anemia). The signs and symptoms of thalassemia in this type of disease are moderate to severe and people with the disease will need regular blood transfusions throughout their lives.

Four genes are defective: In this case, you have alpha thalassemia major (the most severe form of alpha thalassemia). This condition can cause fetal hydrops (a serious condition in which fluid builds up in parts of the fetus’ body). Note that an embryo with four defective or mutated genes cannot produce normal hemoglobin and is unlikely to survive even with a blood transfusion.

Beta thalassemia

To make beta-globin chains, you need two globin genes, each of which you receive from your parents. Beta thalassemia occurs if one or both genes are defective. The severity of the disease depends on the number of mutated genes. Here are some common types of beta thalassemia:

A defective gene: If a gene is defective, beta thalassemia minor develops.

Two defective genes: In this condition, moderate or severe symptoms may occur. If both genes are mutated or defective, thalassemia major develops.

Beta thalassemia is more common in Mediterranean people and is more prevalent in North Africa, West Asia and the Maldives.

Symptoms of thalassemia

Jaundice caused by thalassemia

The symptoms of thalassemia vary depending on the type. Symptoms do not show up in most babies with beta thalassemia and some types of alpha thalassemia until 6 months of age. This condition occurs because babies have another type of hemoglobin called fetal hemoglobin. Normal hemoglobin begins to replace the embryonic type after 6 months of age, and symptoms may begin. In general, the symptoms of thalassemia can include the following:

  • Jaundice and pale skin
  • Drowsiness and fatigue
  • Chest pain
  • Cold hands and feet
  • Shortness of breath
  • Leg muscle cramps
  • Heart rate
  • Decreased appetite and poor nutrition
  • Growth retardation
  • Headache
  • Dizziness and weakness
  • More susceptible to infection

Another symptom of this disease is skeletal deformity due to the body trying to produce more bone marrow.

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Since there is no natural way to remove iron from the body, repeated blood transfusions can lead to excessive iron accumulation and lead to a condition called “abnormal iron gain”; Of course, iron may also accumulate through blood transfusions. Too much iron can damage tissues and organs such as the spleen, heart and liver. Patients with hemoglobin H are more likely to develop gallstones and enlarged spleen. If the complications of thalassemia are left untreated, it can lead to organ failure.

Causes of thalassemia

Hemoglobin protein transports oxygen to blood cells, and the bone marrow uses iron from food to produce hemoglobin. In people with thalassemia, the bone marrow does not produce enough healthy hemoglobin or red blood cells, and in some cases, this condition leads to a lack of oxygen, resulting in anemia and fatigue. People with mild thalassemia may not need any treatment; But people with severe forms of the disease should have regular blood transfusions.

Methods of diagnosing thalassemia

Thalassemia test

Moderate to severe thalassemia is usually diagnosed by the age of 2 years. Thalassemia is often easily diagnosed by a blood test. In the following, we will introduce the methods of diagnosing this disease:

Complete blood cell count (CBC): This method can check the level of hemoglobin and red blood cells.

Number of reticulocytes: Reticulocytes actually refer to newly produced and relatively immature red blood cells. Doing this measures the rate at which bone marrow produces red blood cells or reticulocytes. Reticulocytes make up between 1 and 2 percent of a healthy person’s red blood cells.

Iron: A blood iron test can help your doctor determine the cause of anemia, whether it is thalassemia or iron deficiency. The cause of thalassemia is not related to iron deficiency.

Genetic testing: DNA analysis It will test for thalassemia or the presence of defective genes.

Prenatal test: This test, which is done before the baby is born, shows the fetus has thalassemia and evaluates its severity.

Placental villi sampling (CVS): This test is prescribed for some pregnant women in which placental villi are sampled. This test is usually done in the 11th week of pregnancy.

Amniocentesis: In this procedure (usually in the 16th week of pregnancy) a small sample of amniotic fluid is taken for testing. Amniotic fluid is the fluid that surrounds the fetus.

Thalassemia treatment methods

Blood transfusion in people with thalassemia

Treatment of this disease depends on its type and severity. Here are some ways to treat thalassemia:

blood transition: Blood transfusions can increase the levels of hemoglobin and red blood cells. Patients with thalassemia major need eight to twelve injections a year, and those with milder thalassemia need eight injections each year, which may increase during times of stress, illness, or infection.

Iron chelate: This procedure involves removing excess iron from the bloodstream. Blood transfusions can sometimes cause iron overload, which can damage the heart and other parts of the body. Deferoxamine may be prescribed to treat these patients; It can be injected both subcutaneously and orally.

Patients undergoing blood and chelate transfusions may need folic acid supplements; Because taking this drug helps the growth of red blood cells.

Bone marrow or stem cell transplant: Bone marrow cells actually produce red and white blood cells, hemoglobin and platelets; For this reason, in severe cases, a transplant from a compatible donor may be an effective treatment.

Surgery: This procedure may be needed to correct bone abnormalities.

Gene Therapy: Scientists are studying different genetic methods for treating thalassemia; However, this method appears to involve inserting a natural beta-globin gene into a patient’s bone marrow or using a drug to reactivate fetal hemoglobin-producing genes.

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Complications of thalassemia

People with thalassemia can have several complications, which we will mention below:

Excess iron

This condition may be due to repeated blood transfusions or the disease itself. Excess iron in the blood increases the risk of hepatitis, fibrosis and cirrhosis. Too much iron in the blood interferes with the function of the pituitary gland and may cause problems in the puberty and development of the child, which can eventually lead to diabetes and hypothyroidism or hyperthyroidism. Excess iron in the blood will also increase the risk of arrhythmias and congestive heart failure.


Sometimes a person’s immune system reacts to new blood during a blood transfusion and tries to destroy it. To prevent this type of problem, blood types must match exactly.

Large spleen

The spleen restores red blood cells, and because the shape of red blood cells in people with thalassemia may be abnormal, it is more difficult for the spleen to recover. In fact, the cells in the spleen shrink and grow. Enlargement of the spleen can continue for too long, destroying the healthy blood cells that the patient receives during the injection. Sometimes the patient may need spleen surgery or splenectomy; Of course, this is less common; Because removal of the spleen can have other side effects.


Spleen removal increases the risk of infection, and regular injections increase the risk of blood-borne disease.

Bone deformation

In some cases, the bone marrow disintegrates, deforming the surrounding bones, especially the skull and face. Under these conditions, the bone can become brittle and increase the risk of fractures.

Living with thalassemia

People with thalassemia may need ongoing medical care to effectively control the disease, depending on the type of disease they have. People who need to have frequent blood transfusions should always be monitored by a doctor. People with thalassemia are advised to follow a healthy diet and include exercise in their daily routine. Some foods, such as spinach or fortified cereals, may need to be avoided to prevent excessive iron accumulation. Patients should discuss their diet and exercise with their doctor. The Centers for Disease Control and Prevention (CDC) urges people with thalassemia to get vaccinated on time to prevent complications. This is especially important for those who have a blood transfusion; Because the risk of hepatitis A Or B is higher in them.

Thalassemia and pregnancy

Thalassemia and pregnancy

People with thalassemia should seek genetic counseling when trying to conceive; Especially if both men and women have thalassemia. During pregnancy, a woman with thalassemia may be at higher risk for cardiomyopathy and diabetes; There may also be fetal growth restriction. The mother should be examined by a cardiologist before and during pregnancy to minimize the problems caused by thalassemia in her pregnancy; Especially if he has beta thalassemia minor. Continuous monitoring of the fetus may be recommended during pregnancy.


Thalassemia is an inherited or genetic anemia in which the number of hemoglobins and red blood cells in a person with the disease is lower than normal. Thalassemia is present in two types, alpha and beta, the symptoms of which will vary according to the severity of the disease. People with mild thalassemia can often live without any problems; But in severe thalassemia, there is a risk of heart disease, liver disease, bone deformity and endocrine problems. For treatment, the doctor first carefully examines the condition of the disease and offers appropriate treatment methods to increase the patient’s life expectancy.

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