Hereditary Persistence of Fetal Hemoglobin: A Benign Condition Causing Diagnostic Challenges in Hemoglobin Variants—A Case Report

Hereditary persistence of fetal hemoglobin (HPFH) is a rare genetic condition characterized by elevated levels of fetal hemoglobin (HbF) in adults due to -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 -globin gene deletions sustaining HbF production.While asymptomatic, this mutation offers therapeutic benefits for conditions like sickle cell disease and -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.

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Publication Details

Journal
Indian Journal of Medical Biochemistry
Published
2025-08-30
DOI
https://doi.org/10.5005/jp-journals-10054-0280
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
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article

Hereditary Persistence of Fetal Hemoglobin: A Benign Condition Causing Diagnostic Challenges in Hemoglobin Variants—A Case Report

Dhiraj Kumar, Abhra Ghosh, Navjot Kaur, Manthan Dhingra et al.
Indian Journal of Medical Biochemistry
Hemoglobinopathies and Related Disorders
article

Hereditary Persistence of Fetal Hemoglobin: A Benign Condition Causing Diagnostic Challenges in Hemoglobin Variants—A Case Report

Dhiraj Kumar, Abhra Ghosh, Navjot Kaur, Manthan Dhingra, Javed Ahmed Ansari
article en

Abstract

Hereditary persistence of fetal hemoglobin (HPFH) is a rare genetic condition characterized by elevated levels of fetal hemoglobin (HbF) in adults due to -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 -globin gene deletions sustaining HbF production.While asymptomatic, this mutation offers therapeutic benefits for conditions like sickle cell disease and -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.

Indian Journal of Medical BiochemistryVol. 29(3)
Openalex Percentile: Top 68%
Hemoglobinopathies and Related Disorders
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Hereditary Persistence of Fetal Hemoglobin: A Benign Condition Causing Diagnostic Challenges in Hemoglobin Variants—A Case Report — Dhiraj Kumar, Abhra Ghosh, et al. · Indian Journal of Medical Biochemistry (2025) | TGRS Research Map | TGRS