Unlocking the Secrets of Beta-plus-thalassemia: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Beta-plus-thalassemia

Beta-plus-thalassemia is a blood disorder that affects the production of hemoglobin, an essential protein responsible for transporting oxygen throughout the body. This condition is caused by mutations in the HBB gene, leading to a reduced amount of functional hemoglobin. As a result, affected individuals may experience anemia, fatigue, and other health complications.

Diagnosing Beta-plus-thalassemia

Early diagnosis of beta-plus-thalassemia is crucial for proper management and treatment. Traditionally, the condition is diagnosed through blood tests, such as a complete blood count (CBC), which evaluates red blood cell indices. A recent study has proposed a highly accurate approach for β-thalassemia detection using red blood indices from CBC, augmented by supervised machine learning, feature selection techniques, and data imbalance handling4.

Genetic Testing for Beta-plus-thalassemia

Genetic testing plays a vital role in the diagnosis, management, and prevention of beta-plus-thalassemia. The following sections discuss the various uses of genetic testing for this disorder.

Ethical Justification for Genetic Screening

Genetic screening for beta thalassemia major is ethically justified in countries like Vietnam, where the condition is prevalent1. Such screening programs differentiate from eugenics and emphasize nonmaleficence and reproductive choice. By identifying carriers of the HBB gene mutation, couples can make informed decisions about family planning and seek appropriate medical care if needed.

Combining STR Haplotyping with Preimplantation Genetic Diagnosis (PGD)

For couples at risk of having a child with beta-plus-thalassemia, preimplantation genetic diagnosis (PGD) offers a way to ensure the birth of a healthy child. A recent study demonstrated the feasibility and reliability of using PGD and short tandem repeats (STR) markers to screen embryos for beta thalassemia carriers in Vietnam2. This approach allows for the selection of embryos without the HBB gene mutation, increasing the chances of a successful pregnancy and healthy child.

Preimplantation Genetic Testing for Monogenic Disease (PGT-M)

Another application of genetic testing for beta-plus-thalassemia is preimplantation genetic testing for monogenic disease (PGT-M). This method combines PGT-M for the HBB gene with preimplantation genetic testing for aneuploidies (PGT-A) to screen embryos for both the HBB mutation and chromosomal abnormalities3. A recent study reported the successful development and clinical application of this combined approach in 11 patients, with two cases completing embryo transfer.

Conclusion

Genetic testing is a powerful tool in understanding, diagnosing, and managing beta-plus-thalassemia. By ethically justifying genetic screening, utilizing advanced techniques like STR haplotyping with PGD, and employing PGT-M, healthcare professionals and individuals affected by this condition can make informed decisions about treatment and family planning. As our understanding of genetics continues to grow, so too will our ability to combat and prevent conditions like beta-plus-thalassemia.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)