Hereditary persistence of fetal hemoglobin [HPFH]
ICD-10 D56.4 is a billable code used to indicate a diagnosis of hereditary persistence of fetal hemoglobin [hpfh].
Hereditary persistence of fetal hemoglobin (HPFH) is a genetic condition characterized by the continued production of fetal hemoglobin (HbF) into adulthood. Normally, fetal hemoglobin is replaced by adult hemoglobin (HbA) shortly after birth. In individuals with HPFH, the switch from HbF to HbA is impaired, leading to elevated levels of HbF throughout life. This condition is often asymptomatic and may not require treatment; however, it can be associated with mild hemolytic anemia in some cases. HPFH is primarily caused by mutations in the regulatory regions of the beta-globin gene cluster, which can lead to increased expression of the gamma-globin genes that produce HbF. The persistence of HbF can provide a protective effect against sickle cell disease and beta-thalassemia, as HbF inhibits the polymerization of sickle hemoglobin (HbS) and can ameliorate the symptoms of thalassemia. Genetic factors play a significant role in the inheritance of HPFH, with both dominant and recessive patterns observed. Diagnosis is typically confirmed through hemoglobin electrophoresis, which reveals elevated HbF levels. Understanding HPFH is crucial for genetic counseling and management of patients with hemoglobinopathies.
Detailed lab results showing HbF levels, family history, and clinical symptoms.
Patients presenting with mild anemia or those undergoing genetic counseling.
Ensure that genetic testing results are clearly documented to support the diagnosis.
Comprehensive family history and genetic test results.
Patients with a family history of hemoglobin disorders seeking genetic counseling.
Documentation should include the implications of HPFH on family members and potential risks.
Used to evaluate anemia in patients suspected of having HPFH.
Document the reason for the CBC and any relevant clinical findings.
Hematologists should ensure that the CBC results are interpreted in the context of hemoglobinopathies.
HPFH is a genetic condition where individuals continue to produce fetal hemoglobin into adulthood, which can affect the severity of other hemoglobin disorders.
