• Thu. May 5th, 2022

Thalassemia and its symptoms, causes, risk factors, and complications

Cooley's anemia (also called beta-thalassemia)

Thalassemia

Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.

If you have mild thalassemia, you might not need a cure. But more severe forms might need regular blood transfusions. You can take steps to cope with fatigue, such as selecting a healthy diet and exercising regularly

Symptoms

There are many types of thalassemia. The symptoms you have depend on the type and severity of your condition.

Thalassemia symptoms can include:

  • Weakness
  • Fatigue
  • Slow growth
  • Pale or yellowish skin
  • Facial bone deformities
  • Dark urine
  • Abdominal swelling

Some babies show symptoms of thalassemia at birth; others create them during the first two years of life. Some people who have only one affected hemoglobin gene don’t have thalassemia signs.

Causes

Thalassemia is caused by mutations in the DNA of the cells that make hemoglobin – a substance in red blood cells that carries oxygen throughout your body. Mutations associated with thalassemia are passed from parents to children.

Hemoglobin molecules are made up of alpha and beta chains that are susceptible to mutations. In thalassemia, the production of alpha or beta chains is reduced, resulting in alpha-thalassemia or beta-thalassemia.

In alpha-thalassemia, the severity of thalassemia depends on the number of genetic mutations you obtain from your parents. The more mutated genes, the more severe your thalassemia.

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

Alpha-thalassemia

Four genes are involved in the making of the alpha hemoglobin chain. You will receive two from each of your parents. If you inherit:

  • With one mutated gene, you will have no symptoms of thalassemia. But you are a carrier of the disease and can pass it through to your children.
  • With two mutated genes, your thalassemia signs will be mild. This condition might be called the alpha-thalassemia trait.
  • With three mutated genes, your signs will be moderate to severe.

Inheriting four mutated genes is rare and generally results in stillbirth. Babies born with this condition often die shortly after birth or need lifelong transfusion therapy. In rare cases, this condition can be treated with blood transfusions and stem cell transplants

Beta-thalassemia

Two genes are involved in creating the beta hemoglobin chain. You will receive one from each of your parents. If you inherit:

  • With one mutated gene, you will have mild symptoms. This condition is called thalassemia minor or beta-thalassemia.
  • With two mutated genes, your symptoms will be moderate to severe. This condition is called thalassemia Cooley anemia.
  • Babies born with two defective beta hemoglobin genes generally are healthy at birth but develop signs and symptoms within the first two years of life. Thalassemia is a mild form of intermedia caused by two mutated genes.

Risk factors

Factors that increase your risk of thalassemia include:

  • Family history of thalassemia. Thalassemia is transmitted from parents to children through mutated hemoglobin genes.
  • Certain ancestry. Thalassemia occurs mostly in African Americans and people of Mediterranean and Southeast Asian descent.

Complications

Possible complications of moderate to severe thalassemia include:

  • Iron overload. People with thalassemia will receive too much iron in their bodies, either from the disease or from frequent blood transfusions. Excess iron can damage your heart, liver, and endocrine system, including the hormone-producing glands that regulate processes throughout your body.
  • Infection. People with thalassemia have a high risk of infection. This is especially true if you’ve had your spleen removed.

In cases of severe thalassemia, the following intricacies can occur:

  • Bone deformities. Thalassemia expands your bone marrow, which expands your bones. It can cause abnormal bone formation, especially in your face and skull. Bone marrow enlargement makes bones thinner and brittle, which increases the chance of fracture.
  • Enlarged spleen. The spleen helps your body fight infection and filter out unwanted substances such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than usual.
  • An enlarged spleen can worsen anemia and shorten the lifespan of transfused red blood cells. If your spleen is too large, your doctor may recommend surgery to remove it.
  • Slowed growth rates. Anemia can slow a baby’s growth and delay puberty.
  • Heart problems. Abnormal heart rhythms and Heart failure may be associated with severe thalassemia.

When to see a doctor

If your child has any signs or symptoms of thalassemia, see his or her doctor to evaluate.