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.
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
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:
- Fatigue and exhaustion.
- Slower than normal growth ("failure to thrive").
- Jaundice (a yellowish cast to skin and/or eyes).
- Pale skin.
- Growth deformities in the facial bones.
- Swelling of the abdomen (often from swollen or enlarged organs).
- Darker than normal urine.
- Shortness of breath.
- Low appetite.
- Chronic infections.
- Over-abundance of iron in the blood.
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:
- 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.
- 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:
- Blood transfusions.
- Spleen or gallbladder removal.
- Bone marrow transplants.
- Chelation therapy (to remove excess iron).
Prevention & Prophylaxis