Background: Recent advances in genomics have enabled the successful identification of a number of rare pathogenic mutations. Uncovering these mutations is essential as the first step towards devising a cure for the often debilitating and life-limiting diseases arising from them. For many of these mutations targeted agents do not yet exist. Here, we describe the case of a patient who has a novel pathogenic mutation in the erythropoietin (EPO) gene, which is essential for normal erythropoiesis, and who presented with a profound hypoplastic anemia.
Methods: The patient aged 5 months, was started on recombinant erythropoietin, at a standard dose of 500 units (50 U/kg) and subsequently 800 units three time weekly and her blood counts were monitored over 4 years.
Findings: A prompt response to the recombinant erythropoietin was found with an increase in hemoglobin levels to 12.8 g/dL and increase in red cell count to 4.89×106/uL. The patient became transfusion independent. The therapy enabled the patient to maintain a hemoglobin level in the normal range without any adverse effects and with no requirement for further blood transfusions.
Conclusions: Patient-customized therapies can be highly effective in the treatment of rare genetic disorders and for many of these disorders effective treatment may already exist in the clinical domain, as described for the patient in this report.
Funding: This work was supported by the New York Stem Cell Foundation (V.G.S.), a gift from the Lodish Family to Boston Children's Hospital (V.G.S.), and National Institutes of Health Grants R01 DK103794 and R01 HL146500 (V.G.S.).