Understanding Beta Thalassemia: Causes, Symptoms, and Management

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Beta Thalassemia

by Alike Medical Team ∙ Updated on June 13, 2023

General

Beta thalassemia is an inherited hematological disorder and originated in an HBB mutated gene which participated in the beta- globin formation. The beta- globin protein is a subunit of hemoglobin which consists of 2 beta globin subunits and two alpha-globin subunits. Beta thalassemia causes anemia as the disorder reduces the production of hemoglobin. Beta thalassemia major is when the person received two copies of the mutated gene from both of his parents. This subtype is the most severe form of this disorder, and patients that suffer from this disease usually do not live a normal life span. They are dependent on blood transfusion. Beta thalassemia minor or thalassemia trait is when only one gene is damaged, leading to a less severe form of the disease. These people may suffer from anemia.

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Signs & symptoms

At birth, babies who suffer from beta thalassemia major will present with pale skin, fussy, poor appetite and suffer from many infections. Later on, these babies will suffer from failure to thrive, abdominal swelling and jaundice. They can have bone deformities and enlarged heart , liver and spleen. Those who suffer from thalassemia minor may present with no symptoms or they can also suffer from anemia symptoms such as fatigue, pale skin, weak bones, slow growth and enlarged spleen.

Diagnosis

Diagnosis of beta thalassemia starts with blood tests for complete blood count to look for number, size and maturity of blood cells and blood volume. Then, an hemoglobin electrophoresis is performed to quantify levels of hemoglobin F and A2. Genetic testing may also be performed to look for the HBB gene mutation.

Treatment

Beta thalassemia treatment depends on the severity of the disease and the patient’s symptoms and complaints. Treatment may include blood transfusions, iron chelation therapies which reduce the extra iron from the blood, splenectomy if needed, folic acid, gall-bladder removal and bone marrow transplant. Iron supplement does not help these patients and only make it worse!

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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