Thalassemia

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at April 30, 2016
StartDiseasesThalassemia

Thalassemia is a type of heritable blood disorder. While currently considered incurable, treatment is available. However, not everyone who is diagnosed with thalassemia requires treatment. Because it is most common among people of Mediterranean descent, it is sometimes referred to as Mediterranean anemia.

Contents

Definition & Facts

Thalassemia is a disorder in which there is an abnormally low amount of hemoglobin, a certain type of protein found in the red blood cells. Hemoglobin performs a critical function: it carries incoming oxygen from the lungs to the rest of the body and then carries carbon dioxide back to the lungs to be exhaled out of the body.

There are four different types of thalassemia recognized today; all four types describe a condition in which a lower than normal level of hemoglobin in the red blood cells exists as well as fewer red blood cells exist more generally. The distinguishing factor separating each of the four types of thalassemia relates to the part of the hemoglobin that is lacking.

Hemoglobin itself contains two parts: alpha and beta. The amount of missing hemoglobin determines whether a case of thalassemia is present but non-manifest (trait), mild (minor), moderate (intermedia), or severe (major). Thalassemia is known to present more frequently in certain ethnicities, specifically Greek, Italian, Middle Eastern, African and Asian individuals

Symptoms & Complaints

While thalassemia itself is not a household word, one of its symptoms is - anemia. Anemia occurs when there are fewer red blood cells and less hemoglobin to do the work of transporting oxygen to the cells of the body. Anemia arises for a number of reasons, including heritable triggers, such as thalassemia, and non-heritable triggers, such as iron deficiency.

Because thalassemia is essentially a type of heritable, non-curable anemia, many of the symptoms are similar or the same as those of anemia. Here is a list of the most common symptoms of thalassemia seen in patients:

Causes

Thalassemia is caused by a heritable genetic condition that causes lower than typical hemoglobin and red blood cell counts. There are two major categories of thalassemia: alpha and beta. Alpha-thalassemia is caused by mutations among four genes; beta-thalassemia is caused by genetic mutations among two genes.

The types of thalassemia relate to whether one or both parents is a genetic carrier and what type they each have. Individuals diagnosed with thalassemia minor may not present any symptoms at all, but will still act as a carrier if they choose to have children. Though additional types of thalassemia exist, here are four types of more severe thalassemia:

Alpha Category:

  • Hemoglobin H disease. This condition is considered severe and may require continual blood transfusions.
  • Hydrops fedalis – (also known as alpha-thalassemia major). This condition is so severe it typically results in stillborn infants or early fatality.

Beta Category:

  • Cooley's anemia (thalassemia major). This type of thalassemia is severe and potentially life-threatening. Symptoms typically appear within the first 24 months of life and usually blood transfusions are required on an ongoing basis.
  • Thalassemia intermedia. The symptoms are less severe, requiring treatment but usually not blood transfusions.

Diagnosis & Tests

Because thalassemia is fundamentally a disorder or imbalance in the blood, a blood test is required for definitive diagnosis. Along with confirming the presence of anemia, the physician will observe the red blood cells to see if any are malformed.

For cases where it is difficult to determine the degree of malformation, there is another type of test called a hemoglobin electrophoresis that can more accurately determine if and how many red blood cells may be malformed.

The doctor will also do a thorough physical examination, checking in particular for an enlarged spleen and other symptoms. Even more importantly, the diagnosing physician will take a thorough patient and family medical history to determine if others in the family may be carriers or have the disorder themselves.

Treatment & Therapy

Because thalassemia is at present a heritable, incurable condition, patients will be born with the condition. For mild cases or carrier-only cases, symptoms may present rarely or not at all. In these cases, no treatment may be required.

For more severe cases of thalassemia, symptoms often present at birth or fairly early on in the patient's life. The treatment and therapy prescribed will depend on two factors: the type of thalassemia the patient is suffering from and the severity of the symptoms.

Because all four types of thalassemia have some similar and some differing symptoms, the treatment and therapy will need to be tailored to each individual patient. The most common treatments include:

Prevention & Prophylaxis

It is possible for prospective parents to genetically test for carrier genes before deciding whether or not to have children. There is also the possibility of doing a pre-pregnancy risk assessment to determine what the percentage of risk is for an unborn child to inherit one of the varieties of thalassemia. It is important to do this assessment with both parents if it is suspected that each may be a carrier or have the disorder themselves.

For the moment, the best way to address thalassemia is with lifestyle adjustments, including a choice to eat a healthy diet, exercise regularly, and get plenty of good rest.