β-Thalassemia is a rare genetic blood disorder that is characterized by impaired red blood cell production that can result in life-threatening chronic anemia. Patients usually require regular and life-long blood transfusions for survival that can lead to iron overload in target organs such as the heart and liver. β-Thalassemia results from mutations in the HBB gene, which holds instructions for making beta-globin, an essential part of hemoglobin. Depending on the mutation, affected individuals have either a partial or complete reduction in beta-globin, causing ineffective erythropoiesis and red blood cell damage in turn leading to chronic anemia. β-Thalassemia is classified into two subtypes; transfusion-dependent thalassemia and non-transfusion dependent thalassemia.
β-Thalassemia is most prevalent in people of Mediterranean descent, such as Italians, Greeks or Turks and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China. The prevalence of β-Thalassemia was estimated to be approximately 300,000 patients worldwide in 2008, with at least 60,000 patients born each year with the disease, according to the CDC. In 2018, Decision Resource Group reported that while β-Thalassemia has a worldwide carrier rate of 1.5%, the disease is rare in the US, Italy, Germany, UK, Spain and France with a total diagnosed prevalence of approximately 16,307. The prevalence in the US is low, with an estimated 3,000 patients and approximately 300 patients born each year with the disease.
The greatest unmet need for β-Thalassemia is for more effective treatment for chronic anemia to decrease the burden of frequent blood transfusions and thus eliminate the complications associated with the disease and its management and costs associated with red blood cell transfusions and chelation therapy.
Polycythemia Vera overview
Polycythemia Vera (PV) is a rare chronic disease caused by a hematopoetic stem cell mutation. PV is characterized by the excessive production of blood cells and common symptoms include fatigue, headache, blurred vision, shortness of breath and an enlarged spleen. The excess of blood cells can also increase risk of serious problems such as blood clots, leading to heart attack and stroke. Over time PV may transform into myelofibrosis or leukemia. There are currently approximately 100,000 diagnosed PV patients in the US alone.
Hereditary Hemochromatosis overview
Hereditary Hemochromatosis (HH) is caused by genetic mutations that increase iron uptake from the diet and alters its distribution in the body, leading to iron buildup in the liver, heart and other organs. Too much iron can be toxic and over time can lead to cirrhosis, liver cancer, heart problems joint pain and diabetes. The genetic defect that causes most HH originates in Northern Europe, and there are approximately 5 – 7 million patients in the US and EU.
Myelodysplastic Syndrome overview
Myelodysplastic Syndromes (MDS) are a group of disorders in which blood cells do not mature properly in the bone marrow. Symptoms can include fatigue, shortness of breath, excessive bleeding or frequent infections. There are multiple MDS subpopulations; some of which are characterized by anemia, low hepcidin, and high serum iron and transferrin saturation.