Related Experiment Video
Updated: Nov 19, 2025
Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation
Published on: March 22, 2017
Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation
Ayesha Ejaz1,2,3,4, Alper Ozcan5, Ekrem Unal5,6
1Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA USA.
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.).
Insights
A novel mutation in the erythropoietin (EPO) gene caused hypoplastic anemia. Recombinant EPO therapy successfully treated the patient, normalizing hemoglobin and eliminating transfusion dependence.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Genomic advances identify rare mutations causing severe diseases.
- Novel pathogenic mutation discovered in the erythropoietin (EPO) gene.
- Patient presented with profound hypoplastic anemia due to the EPO gene mutation.
Observation:
- A 5-month-old patient with hypoplastic anemia was treated with recombinant erythropoietin.
- Dosage initiated at 500 units (50 U/kg), then increased to 800 units thrice weekly.
- Blood counts were monitored over a 4-year period.
Findings:
- Prompt response observed with recombinant erythropoietin therapy.
- Hemoglobin levels increased to 12.8 g/dL; red cell count rose to 4.89×10^6/uL.
- Patient achieved transfusion independence and maintained normal hemoglobin without adverse effects.
Implications:
- Patient-customized therapies are effective for rare genetic disorders.
- Existing clinical treatments can be repurposed for novel genetic conditions.
- Successful EPO therapy highlights potential for managing genetic anemias.
Related Concept Videos
02:50Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
02:57Targeted Cancer Therapies
There are several types of targeted therapies against...
01:28Pulmonary Tuberculosis V
Latent tuberculosis infection occurs when TB bacteria are present in a person's body, but are not causing illness or symptoms. It is not contagious, and preventive treatment is crucial to avoid the...