Symptoms of Beta Cell Thalassemia

What is Beta Cell Thalassemia?

Beta cell thalassemia is a common genetic disorder of the blood mainly due to problems associated with the production of hemoglobin, the oxygen carrying component of the red blood cell (RBC). Significant reduction in the amount of hemoglobin greatly impairs the ability of the RBCs to deliver the much needed oxygen to different tissues in the body. The lack of oxygen therefore, leads to a decrease in the overall function of the organs involved. Poor oxygenation in the lungs, for example, leads to body weakness, shortness of breath and easy fatigability.

What are the Causes of Beta Cell Thalassemia?

A normal hemoglobin molecule typically consists of two subunits of alpha-globin, and two subunits of beta-globin. The HBB gene is responsible for the production of beta-globin.

When the HBB gene mutates, no beta-globin is produced and hemoglobin production is greatly impaired. The patient will then start to manifest the signs and symptoms associated with beta cell thalassemia. In general, beta cell thalassemia symptoms depend on the severity of the condition, which is grouped according to different types.

The condition is inherited in an autosomal recessive manner. This means that one version of the defective gene is passed on by each parent for the child to actually manifest the condition. Diagnosis is usually made based on the patient’s family history, by conducting a thorough physical examination, and through blood tests.

What are the Different Types and Symptoms of Beta Cell Thalassemia?

There are basically four known types of beta cell thalassemia: minor, minima, intermedia and major. Beta cell thalassemia minima is oftentimes called the “silent type” because the patient does not feel any symptoms at all. A patient with beta cell thalassemia minor, on the other hand, may experience no symptom at all or may appear pale and is easily tired.

Beta cell thalassemia intermedia and major share some similarities in symptoms which include jaundice, enlargement of the liver and the spleen, presence of anemia, and delayed growth making the patient more susceptible to infection. Beta thalassemia major however, has additional severe signs and symptoms such as gallbladder stones, changes in the physical appearance of the patient, abnormalities in the heart, expansion in the bone marrow, and iron overload.

The most severe form among the four types is beta cell thalassemia major, otherwise known as Cooley’s anemia, where the patient usually complains of severe fatigue and the form of treatment includes regular blood transfusions.

What are the Treatments for Beta Cell Thalassemia?

Prompt detection makes prompt intervention possible. Patients with milder forms of beta cell thalassemia may need to have regular monitoring and blood transfusions when they are found to be anemic. Severe forms of the disease however, need frequent and regular blood transfusion with iron chelation therapy to prevent iron overload which is caused by frequent transfusion of blood. Counseling may also benefit patients. Another form of treatment is bone marrow transplantion, but sometimes there are difficulties in finding a suitable donor.

References

Genetics Home Reference: Beta Thalassemia

MedicineNet.com: Beta Thalassemia