Hereditary Persistence of Fetal Hemoglobin: A Benign Condition Causing Diagnostic Challenges in Hemoglobin Variants—A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Hereditary persistence of fetal hemoglobin (HPFH) is a rare genetic condition characterized by elevated levels of fetal hemoglobin (HbF) in adults due to β-globin gene cluster abnormalities.It is classified as deletional or nondeletional based on the mutation type and is asymptomatic, with normal red blood cell indices and no anemia, often discovered incidentally during unrelated medical evaluations.This report presents a case of HPFH diagnosed in a 28-year-old farmer from Central India during preoperative tests following a humeral fracture caused by a tractor accident.Despite no signs of anemia or hematological abnormalities, hemoglobin HPLC was performed due to a family history of sickle cell trait, revealing an increased labile glycated hemoglobin/carbamylated hemoglobin ratio (76.2%), low adult hemoglobins: HbA (4.7%) and HbA2 (3.5%), and absence of HbF and sickle hemoglobin.Automated and alkaline electrophoresis confirmed a strong HbF signal, leading to an HPFH diagnosis.Hereditary persistence of fetal hemoglobin in India, especially among tribal populations, often results from β-globin gene deletions sustaining HbF production.While asymptomatic, this mutation offers therapeutic benefits for conditions like sickle cell disease and β-thalassemia.Accurate diagnostic techniques, such as high-performance liquid chromatography, are vital for detecting hemoglobinopathies.As systems like Biorad D10 can misinterpret elevated HbF levels, this case underscores the importance of precise diagnostics to avoid misdiagnosis and highlights HPFH's clinical significance.
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413869411