Beta Thalassemia
What is Beta Thalassemia ?
Beta thalassemia (pronounced “thal-uh-SEE-me-uh”) is a blood disorder that interferes with your body’s ability to make hemoglobin. Hemoglobin is an iron-rich protein that’s the main ingredient in red blood cells. Hemoglobin enables your red blood cells to carry oxygen to your body’s other cells and tissues. Your cells use the oxygen they receive from red blood cells to make energy.
Beta thalassemia is one of two main types of thalassemia. Beta thalassemia and its counterpart, alpha thalassemia, involve gene mutations (or errors) in the hemoglobin protein. This gene mutation disrupts your body’s ability to make a protein in hemoglobin called beta-globin.
Symptoms
- Fatigue
- Dizziness or weakness
- Frequent headaches
- Pale skin
- Shortness of breath with exertion
- Heart palpitations
- Jaundice
- Dark or tea-colored urine
- Slow growth or delayed development
- Swollen abdomen
Cause
Beta thalassemia results from a mutation (error) that limits beta-globin production in your body. Hemoglobin consists of four protein chains, two alpha-globin chains and two beta-globin chains. Mutations of the alpha-globin chain cause alpha thalassemia, while mutations of the beta-globin chain cause beta thalassemia. A deficiency of either globin chain damages and destroys the red blood cell. You inherit the gene mutation for beta thalassemia in an autosomal recessive pattern. This happens when both biological parents carry one copy of the mutated gene and one copy of the normal gene. In the most severe form of beta thalassemia, you inherit a copy of the mutated gene from both parents. In rare instances, inheriting just one mutated beta-globin gene causes beta thalassemia. This is called an autosomal dominant pattern.
Risk Factors
The primary risk factor for beta thalassemia is having a family history of the disease. It’s a genetic disorder inherited from one or both parents. Individuals with family members from regions where thalassemia is more common, such as the Mediterranean, Africa, and Asia, may also have a higher risk. Here’s a more detailed look, Family History. If your parents have mutations in the beta-globin gene, or in other genes that affect the beta-globin protein chain, you can inherit thalassemia. Certain Ancestry. People with family members from Mediterranean, African, or Asian descent may have a higher risk of carrying or having thalassemia. Carrier Status. If you inherit one mutated beta-globin gene, you’re a carrier and may not have symptoms, but you can still pass the gene to your children. Inheritance. To develop thalassemia major, you need to inherit the mutated gene from both parents. Thalassemia minor (carrier status) occurs if you inherit the mutated gene from only one parent.
When to see a Doctor
Make an appointment with your doctor if you have any signs or symptoms that worry you.