Unraveling the Mysteries of British HPFH: Genetic Testing for Diagnosis and Management

Expert Reviewed By: Dr. Brandon Colby MD

Hereditary persistence of fetal hemoglobin (HPFH) is a rare genetic condition characterized by the continued production of fetal hemoglobin (HbF) in adults. While typically benign, HPFH can sometimes be associated with other blood disorders, such as thalassemia and sickle cell disease. British HPFH is a specific subtype of this condition, caused by genetic mutations in the hemoglobin subunit gamma (HBG) genes. Understanding, diagnosing, and managing British HPFH through genetic testing can be crucial in providing appropriate care and guidance for affected individuals and their families.

Understanding British HPFH

During fetal development, HbF is the primary form of hemoglobin responsible for transporting oxygen to the developing tissues. After birth, the production of HbF declines, and adult hemoglobin (HbA) takes over this function. However, in individuals with HPFH, the production of HbF continues into adulthood, resulting in elevated levels of HbF in the blood.

British HPFH is caused by specific genetic mutations in the HBG genes, which encode the gamma chains of HbF. These mutations lead to a disruption in the normal switch from HbF to HbA production after birth. Although British HPFH is usually asymptomatic, it can sometimes be associated with other blood disorders, such as beta-thalassemia and sickle cell disease, leading to more severe clinical manifestations.

Diagnosing British HPFH

Diagnosis of British HPFH typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Clinical evaluation may include a thorough medical history and physical examination, focusing on any signs or symptoms of blood disorders. Laboratory testing may involve blood tests to measure the levels of HbF and HbA, as well as other blood parameters.

Genetic testing is a key component of the diagnostic process for British HPFH, as it allows for the identification of the specific mutations in the HBG genes responsible for the condition. This can be achieved through various genetic testing methods, such as DNA sequencing, gene panel testing, or whole-exome sequencing.

Uses of Genetic Testing in British HPFH

Genetic testing for British HPFH can be helpful in several ways:

Identifying the specific HBG gene mutations can confirm the diagnosis of British HPFH, allowing for appropriate management and care of affected individuals.

Genetic testing can provide valuable information for family planning, as it can determine the carrier status of parents and the risk of passing the condition on to their children. Prenatal testing can also be performed to assess the presence of HBG gene mutations in a developing fetus.

Identifying the specific genetic cause of British HPFH can help determine the risk of associated blood disorders, such as beta-thalassemia and sickle cell disease. This information can guide appropriate management and monitoring strategies for affected individuals.

In cases where British HPFH is associated with other blood disorders, genetic testing can help inform treatment decisions, such as the use of targeted therapies or the need for blood transfusions.

Conclusion

British HPFH is a rare genetic condition characterized by the persistence of fetal hemoglobin production into adulthood. Genetic testing plays a crucial role in the diagnosis and management of this condition, providing valuable information for affected individuals and their families. By understanding the genetic basis of British HPFH and utilizing genetic testing, healthcare professionals can provide appropriate care and guidance to those affected by this condition.

References:

• Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree
• British Association of Dermatologists Dermatology and Genetic Medicine (BADGEM)
• Subtyping Severe Hypercholesterolemia by Genetic Determinant to Stratify Risk of Coronary Artery Disease
• Clinical and genetic variants of hypertriglyceridemia in the practice of a lipidologist

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)