What is Beta Thalassemia?
Beta-thalassemia (β-thal) is a blood-related disorder and occurs when the body cannot make enough of the protein called hemoglobin (present in red blood cells; RBCs). Due to the lack of hemoglobin in RBCs, they cannot function properly and persist for shorter periods. It occurs due to mutations in the HBB gene on chromosome 11, also inherited in an autosomal, recessive fashion. The severity of the disease depends on the nature of the mutation and the presence of mutations in one or both alleles. Sex-related bias is generally not apparent in β-thal.
How many types of Beta Thalassemia?
There are three different types of β-thalassemia; β-thal minor, β-thal intermediate and β-thal major. Other than these, there are some more classes viz; Hemoglobin E β-thal, Sickle β-thal, Hemoglobin C – β-thal, Hereditary persistence of fetal hemoglobin (HPFH) associated with β-thal, Dominant β-thal, Trichothiodystrophy (TTD) and X-linked thrombocytopenia with thalassemia (XLTT). The thalassemia spectrum is clinically divided into two main categories based on the patient’s need for blood transfusion—transfusion-dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT).
The number of foreign-born residents in the United States has increased over the last five decades from 5.4% in 1960 to nearly 13% in 2010. In 2010, 53% and 28% of foreign-born United States residents had immigrated from Latin America and Asia, respectively. Americans of Hispanic and African descent are also at risk of thalassemia. In England approximately, 2,800 (0.44%) carry beta-thalassemia trait annually, and 43 (0.07/1,000) are affected by beta-thalassemia major.
What is Beta Thalassemia Market Outlook?
Beta Thalassemia is a genetic disorder which is inherited in an autosomal, recessive fashion. The clinical manifestations seen in patients are severe anemia, abnormal hemoglobin and buildup of iron in the body. Excess iron can damage the heart, liver, and endocrine system. Being a genetic disorder there is no specific treatment for Beta Thalassemia and the treatment regimen mainly focus on delaying progression of the disease and relieving the symptoms.
Blood transfusion and iron chelation are the standard of care for patients with TDT, with the former suppressing ineffective hematopoiesis and its complications, and the latter treating and preventing complications from iron overload. The goal of treatment is to maintain a hemoglobin level of 9-10.5 g/dL, which has been shown to promote normal growth, suppress bone marrow activity, and minimize iron accumulation.
The main complication from frequent blood transfusions is iron overload, as the human body lacks a method of excreting excess iron. Accumulation of iron in the body, particularly in the heart, liver, and pituitary gland, can lead to heart failure, cirrhosis, hepatocellular carcinoma, hypothyroidism, hypoparathyroidism, hypogonadism, diabetes, and growth failure. Iron chelation therapy is the main method of both treating and preventing iron overload.
The primary goal of chelation is to maintain iron balance in the body by excreting excess iron through urine or feces. Thus, owing to the symptomatic treatment in target patient population, the current market of Beta Thalassemia covered in the report solely focuses on the market revenue generated by iron binders/chelators. There are some iron chelators used in iron chelation therapies, namely: Deferoxamine (DFO), Deferiprone (DFP) and Deferasirox (DFX). These are either given alone or in combination Desferal (deferoxamine mesylate USP), developed by Novartis, is an iron-chelating agent, available in vials for intramuscular, subcutaneous, and intravenous administration.
Desferal is indicated for the treatment of acute iron intoxication and of chronic iron overload due to transfusion-dependent anemia. Desferal can promote iron excretion in patients with secondary iron overload from multiple transfusions—as may occur in the treatment of some chronic anemias, including thalassemia. Besides, it can be given by intramuscular, subcutaneous, and intravenous routes of administration.
Novartis developed Exjade (Deferasirox), which is an oral iron chelator approved by the US FDA in 2005. Its main use is to reduce chronic iron overload in patients who are receiving long term blood transfusions for conditions such as beta-thalassemia and other chronic anemias.
It is a member of a new class of tridentate iron chelators, the N-substituted bis-hydroxyphenyl-triazoles. Metabolism and elimination of deferasirox are primarily by glucuronidation followed by hepatobiliary excretion into the feces. Approved in more than 70 countries including the US and Europe, Exjade is the first once-daily oral iron chelator approved for use in patients with chronic transfusional iron overload who have a wide range of underlying anemias.