Hypoplastic Bone Marrow Failure in a Patient with Hereditary Persistence of Foetal Haemoglobin (HPFH) Trait ED01-ED02
Dr. AK Kapoor,
Department of Pathology, Vivekananda Polyclinic and Institute of Medical Sciences, Nirala Nagar, Lucknow-226020, Uttar Pradesh, India.
Hereditary Persistence of Foetal Haemoglobin (HPFH) trait is a rare genetic disorder and is caused by a large deletion involving δ and β globin genes. It is characterised by persistence of Foetal Haemoglobin (HbF) even in an adult. HbF level may vary from 2 to 30% in carriers of HPFH. Clinically, HPFH trait is asymptomatic without relevant haematological alterations. Mostly, HPFH trait is detected incidently while screening for other haemoglobinopathies. Herewith, we report a case of HPFH trait in our population. A 10-year-old boy born of non-consanguineous marriage complained of dyspnoea on exertion and dizziness. On examination he had generalised pallor. Earlier, he gave history of exposure to pesticides while spraying on crops. Later, he developed neutropenia (neutrophils 2000/mm3). He was immediately treated with piperacillin and gentamicin. Later, he was found to be severely anaemic (haemoglobin 3.0 gm/dL). His serum ferritin was within normal range. He also had severe thrombocytopenia (Platelets 10Ã—109/L). Subsequently, Haemoglobin High Pressure Liquid Chromatography (Hb HPLC) was done. His chromatogram showed raised HbF concentration (5.8%) and borderline/or reduced HbA2 concentration (3.1%). He was finally diagnosed as a case of HPFH trait. He was given folic acid and 250 mL of the whole blood transfusion during his stay in hospital. Pesticide and/or insecticide might have caused severe hypoplastic anaemia. Moreover, piperacillin and gentamicin might have also contributed to thrombocytopenia. Detection of HPFH trait appeared to be important for its prevention in our region.