A Quick Overview of Thalassemia: Symptoms, Types, and Causes

Thalassemia is a blood disorder where the patient’s hemoglobin content drops below healthy levels, and they have fewer RBCs present in their body than an unaffected individual. Hemoglobin is the material present in these particular cells, which lets them carry oxygen. When the hemoglobin count diminishes, it brings about anemia in the patient, and leaves them fatigued.

In milder cases of thalassemia, treatment may not be necessary. However, in the more severe forms of this disorder, regular blood transfusions may be called for. The sufferer can also take additional steps to handle the fatigue, including switching to a healthier diet, and exercising on a regular basis. This would, of course, work best after consulting a doctor at a low income medical clinic.

Symptoms

Thalassemia can bring multiple signs and symptoms, including the following. If a child or woman shows any of these, it is best to have them medically evaluated as soon as possible, at an affordable health clinic or hospital.

  • Fatigue
  • Weakness
  • Yellowish or pale skin
  • Abdominal swelling
  • Slow growth
  • Dark urine
  • Facial bone deformities

Thalassemia in a person can be of a type among several, which include thalassemia intermedia, alpha-thalassemia, and Cooley anemia. Based on which type you suffer from, the symptoms of the condition would differ, and so would its severity. Thalassemia exhibits itself in some babies right at birth, while others have a chance of developing it inside the first two years of life. In people who only have one of their hemoglobin genes affected, no symptoms of thalassemia occur.

Causes

Thalassemia is a condition caused by DNA mutation, specifically in the cells that are responsible for producing hemoglobin, which in turn is vital to a person’s blood being able to carry oxygen. Mutations of this kind are inherited from one or both parents, and disrupt the body’s normal hemoglobin production. Anemia is the most direct effect brought on by this, and it leaves the patient fatigued at times when they should be feeling the opposite.

Types of Thalassemia

The specific type of thalassemia developed by a person is based on the exact gene mutation they inherited, as well as the precise point where the hemoglobin molecule is affected. Higher mutation causes more severe thalassemia. Hemoglobin has both alpha and beta portions, either or both of which can be affected when the person carries this kind of mutation.

Alpha-Thalassemia

There are four genes, which are involved in making up the alpha portion of the hemoglobin chain. Two are inherited from each parent, and the following things can occur.

  • The person may inherit 1 mutated gene, in which case they would show no signs of thalassemia. However, they would be a carrier, meaning the disease could be passed on to biological children.
  • The person may inherit 2 mutated genes, in which case they would show only mild signs and symptoms of thalassemia. This specific condition is also known as alpha-thalassemia trait.
  • The person may inherit 3 mutated genes, in which case they would show moderate to severe signs and symptoms of thalassemia.
  • The person may inherit 4 mutated genes, which is a rare occurrence. Fetuses affected in this manner suffer severe amnesia, and are typically stillborn. Babies that survive usually die in a matter of months or even weeks, or end up requiring transfusion therapy throughout life. There are rare cases where they can be treated using transfusions and a bone marrow transplant.

Thalassemia Minor

There are two genes, which are involved in making up the beta portion of the hemoglobin chain. One is inherited from each parent, and the following things can occur.

  • The person may inherit 1 mutated gene, in which case they would show mild signs and symptoms of thalassemia. The condition is also known as beta-thalassemia or thalassemia minor.
  • The person may inherit 2 mutated genes, in which case they would show moderate to severe signs and symptoms of thalassemia. The condition is known as Cooley anemia, or thalassemia major. Babies that are born this way may be healthy at birth, but start showing signs inside their first two years. There is a milder form of this condition, known as thalassemia intermedia, which can occur when the person has two mutated beta genes.

Complications

  • Iron overload: Because of the condition, patients normally have an unhealthy buildup of iron inside their bodies. This may be from the disease itself, or it may be a result of frequent blood transfusions. Damage can occur to the liver, heart, and endocrine system.
  • Bone deformities: Thalassemia patients may experience expansion in the bone marrow, which would cause widening in the bones. The most prominent result of that is abnormal bone structure, mainly in the skull and the face. Expansion of the bone marrow also causes the bones to turn brittle and thin, which drives up the chances of breaking them accidentally.