Hereditary persistence of fetal hemoglobin (HPFH) is a benign genetic condition characterized by continued expression of fetal hemoglobin (HbF) into adulthood. We report the case of a 26-year-old Ghanaian woman who was incidentally diagnosed with homozygous deletional HPFH during evaluation for flank pain. Laboratory testing revealed 100% HbF, erythrocytosis, and normal red cell indices. Family screening showed an identical phenotype in her monozygotic twin, an HbF level of 29% in her mother, and a normal hemoglobin electrophoresis pattern in one sibling. Homozygous deletional HPFH is rare, and this case contributes to the limited literature on adult presentations.
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Boachie et al. (2026) studied this question.
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