Beta Thalassemia - Diagnosis and Management

Beta Thalassemia is an inherited blood disorder that affects hemoglobin production in the body. Hemoglobin is a protein in red blood cells responsible for carrying oxygen throughout the body. When the production of hemoglobin is compromised, it leads to a reduced ability of red blood cells to transport oxygen, resulting in various health complications. This condition is called Beta Thalassemia, one of the most prevalent genetic disorders worldwide.

Beta Thalassemia occurs when the body doesn’t produce enough of the beta component of hemoglobin. This leads to ineffective red blood cells, causing a decrease in the oxygen supply to tissues. As a result, individuals with Beta Thalassemia often experience symptoms such as fatigue, shortness of breath, and anemia.

The severity of Beta Thalassemia can vary depending on the genetic mutation‘s impact on hemoglobin production. It ranges from mild to severe, with the most severe form often requiring regular blood transfusions to manage the anemia.

This disorder is highly prevalent in certain populations, especially in individuals of Mediterranean, Middle Eastern, Southeast Asian, and African descent, where carriers of the disease are more common. Globally, approximately 68,000 children are born with various thalassemia syndromes each year, and it is estimated that 80 to 90 million people worldwide are carriers of the Beta Thalassemia trait.

Beta Thalassemia is caused by mutations in the HBB gene that lead to reduced or absent production of the beta-globin chains that make up hemoglobin. Hemoglobin consists of four protein chains, two alpha and two beta. In Beta Thalassemia, the lack of sufficient beta-globin chains results in an imbalance in hemoglobin production. This imbalance causes red blood cells to be unstable, leading to their premature destruction, and ultimately, anemia.

There are three main types of Beta Thalassemia, each differing in severity:

1. Beta Thalassemia Major (Cooley‘s Anemia): The most severe form, where both copies of the beta-globin gene are mutated. Individuals with this condition often require frequent blood transfusions starting in infancy.
2. Beta Thalassemia Intermedia: A less severe form where individuals have milder symptoms and may not need regular transfusions, though they may experience complications over time.
3. Beta Thalassemia Minor (Trait): A mild form where individuals carry one mutated copy of the gene. They are generally asymptomatic or may have mild anemia but are carriers of the disease.

Clinical Utility of Beta Thalassemia Screening

Carrier screening and diagnosis of Beta Thalassemia provide several key benefits in clinical practice, including:

• Identifying carriers: Beta Thalassemia is an autosomal recessive condition, meaning a child must inherit two copies of the mutated gene, one from each parent, to be affected. Identifying carriers is crucial for couples planning to have children, especially those in high-risk populations.

• Family planning: Couples identified as carriers can make informed reproductive decisions, including the possibility of Preimplantation Genetic Diagnosis (PGD) during IVF, prenatal diagnosis, or adoption.

• Early diagnosis: Early detection through screening allows for better management of the condition, minimizing complications associated with severe forms of the disease. Regular monitoring can lead to timely interventions, such as blood transfusions and iron chelation therapy.

• Preventive care: Genetic counseling for individuals and families provides information on the risk of passing Beta Thalassemia to offspring, helping them make well-informed decisions.

• Guiding treatment plans: For those already affected, regular monitoring of hemoglobin levels and complications like iron overload are critical for optimal health management.

 

When Should You Consider Beta Thalassemia Testing?

Testing for Beta Thalassemia is recommended in the following situations:

• High-risk populations: Individuals of Mediterranean, Middle Eastern, Southeast Asian, or African descent have a higher prevalence of Beta Thalassemia. These individuals should undergo carrier screening, especially if they plan to have children.

• Family history: If there is a known family history of Beta Thalassemia, testing is strongly recommended before starting a family.

• Pre-marital and preconception screening: Couples planning to get married or conceive should undergo carrier screening to understand their genetic risk, particularly if they belong to high-risk ethnic groups.

• Symptomatic individuals: Anyone experiencing symptoms such as anemia, fatigue, pale skin, bone deformities, or other related complications should seek testing for Beta Thalassemia. Early diagnosis can help guide treatment and prevent further complications.

• Population screening programs: In certain countries, Beta Thalassemia screening is part of routine population screening programs, particularly in areas with a high carrier rate.

 

MapmyGenome Offerings

MapmyGenome offers a comprehensive Beta Thalassemia carrier screening test, designed to help individuals and couples assess their genetic risk of passing this condition to their children. Our offerings include:

• NGS-Based Screening: We use Next Generation Sequencing (NGS) to analyze mutations in the HBB gene responsible for Beta Thalassemia. Our test detects both carrier and affected individuals.

• High-Risk Population Focus: Our test is tailored for individuals from high-risk ethnic populations where Beta Thalassemia is more prevalent. It covers a wide range of mutations found in Mediterranean, Southeast Asian, Middle Eastern, and African populations.

• Genetic Counseling: We provide pre- and post-test counseling to help individuals understand their results, make informed family planning decisions, and receive personalized recommendations. Our genetic counselors work closely with families to provide insights into reproductive options.

• Comprehensive Reporting: Our detailed test report provides a clear understanding of the genetic risk, helping you make informed decisions regarding family planning, reproductive management, and overall health.

 

Test Specifications

 

Learn more:

Read: Beta Thalassemia - Everything You Need to Know About Diagnosis and Management

Listen: Understanding Beta Thalassemia - A Guide to Diagnosis and Management

Watch: Beta Thalassemia Explained - From Diagnosis to Management