Hereditary anemias are a group of genetic disorders characterized by abnormalities in the blood that lead to anemia, a condition marked by insufficient red blood cells or hemoglobin. These disorders include various forms like sickle cell disease, thalassemia, and hereditary spherocytosis, each caused by specific genetic mutations that affect hemoglobin production, red blood cell shape, or durability. Diagnosis often involves blood tests, genetic testing, and family history analysis, with management strategies focusing on treating symptoms, preventing complications, and in some cases, curative treatments like bone marrow transplants.
Differentiating among hereditary anemias (HAs) is exceedingly complex. HAs comprise a range of highly heterogeneous disorders that occur infrequently across the general population. More than 70 genetic variants are involved, with unspecific and overlapping phenotypes. Multiple lines of investigation are required to achieve a definitive diagnosis, and even then, the identity of the disorder may remain unclear.1
Genetic testing can:
Genetic testing with next-generation sequencing (NGS) offers the ability to test for multiple hereditary anemias with a single sample, rapidly and accurately.2 With the emergence of genetic testing with NGS, you have the opportunity to consolidate multiple lines of investigation to help get your patients the answers they need.
What is the Program?
Identifying the underlying cause of your patient’s chronic anemia can make a big difference to your patient’s life. That’s why Agios Pharmaceuticals has partnered with Revvity Omics to offer Anemia ID: a free genetic testing program. Anemia ID provides a next-generation sequencing (NGS) panel for a wide range of rare hereditary anemias.
This program is only available to residents of the United States.
All testing provided to patients through Anemia ID is paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all tests and services are performed by Revvity Omics. Agios receives limited de-identified aggregate data generated under this program.
Anemia ID is sponsored by Agios in partnership with Revvity Omics. Other laboratories may also offer genetic testing.
Testing is sponsored by Agios, who does not receive any identifiable information about patients.
Anemia ID is not intended to and should not interfere in any way with a health care professional’s or patient’s independent judgment and freedom of choice in the treatment options for these diseases. Health care professionals and patients should always consider the full range of treatment options and select those most appropriate for the individual patient.
Place the specimen, Requisition Forms, and any additional information in the shipping container. Ship the container within 5 days.
Agios is the pioneering leader in PK activation and is dedicated to developing and delivering transformative therapies for patients living with rare diseases. In the U.S., Agios markets a first-in-class pyruvate kinase (PK) activator for adults with PK deficiency, the first disease-modifying therapy for this rare, lifelong, debilitating hemolytic anemia. Building on the company’s deep scientific expertise in classical hematology and leadership in the field of cellular metabolism and rare hematologic diseases, Agios is advancing a robust clinical pipeline of investigational medicines with programs in alpha- and beta-thalassemia, sickle cell disease, pediatric PK deficiency, MDS-associated anemia and phenylketonuria (PKU). In addition to its clinical pipeline, Agios is advancing a preclinical TMPRSS6 siRNA as a potential treatment for polycythemia vera. For more information, please visit the company’s website at www.agios.com.
