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Blessing in disguise; a case of Hereditary Persistence of Fetal Hemoglobin

Irfan Shaukat1, Amrit Pudal1,2, Sayf Yassin2

  • 1Department of Internal Medicine, MedStar Good Samaritan Hospital, Baltimore, MD, USA.

Journal of Community Hospital Internal Medicine Perspectives
|December 19, 2018
PubMed

Fetal Hemoglobin (HbF, α2γ2) is produced from the eighth week of gestation, constitutes 60 - 80 % of total hemoglobin by birth, which is then replaced with adult Hemoglobin A1 (HbA1: α2β2) by 6-12 months. Hereditary Persistence of Fetal Hemoglobin (HPFH) is a rare benign asymptomatic genetic disorder where the HbF persists, and incidentally discovered on screening for other hemoglobinopathies. In adults, the variation in HbF levels could also be associated with other disease states, including hemoglobinopathies, leukemias and bone marrow failure syndromes. Here we present a case of a young asymptomatic female with the incidental finding of HPFH who was misdiagnosed as the sickle cell disease. It is important to have awareness about HPFH and should be distinguished from other causes of elevated HbF.

Keywords:
Fetal Hemoglobinhemoglobinopathiesleukemiasword

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