The prevalence of thalassemia varies by region, but experts estimate that up to 5% of the world’s population carry a gene for alpha-thalassemia, while about 1.5% carry a gene for beta-thalassemia.

Alpha thalassemia. Four genes are responsible for making the alpha protein. You get two from each parent. ... Beta thalassemia. Two genes are needed to make the beta protein.

In more severe forms of alpha- and beta-thalassemia, symptoms are usually present by 2 years old. The most common issue of pediatric thalassemia is microcytic anemia, which is low hemoglobin with ...

Alpha-globin and beta-globin protein chains make up hemoglobin. Changes in the alpha- or beta-globin genes that provide instructions for these proteins can lead to thalassemia.

β-thalassemia in the heterozygous state is characterized by significant elevations of hemoglobin A 2 in more than 90 per cent of cases. 2,3 This form of thalassemia "interacts" with abnormal β ...

The sNDA is supported by data from the phase 3 ENERGIZE and ENERGIZE-T studies, which evaluated mitapivat vs placebo in patients with NTD and TD alpha- or beta-thalassemia, respectively.

A family of Albanian descent had an unusual form of beta thalassemia. ... De Michele D, et al: A possible case of alpha-beta thalassemia. Acta Genet (Basel) 12:202–208, 1962. PubMed.

The different types of thalassemia develop due to genetic mutations or deletions (where genetic code is missing) in the genes that support alpha and beta globin production.

Alpha thalassemia results from defective alpha globin genes, while beta thalassemia involves mutations in beta globin genes. "Beta thalassemia major, also known as Cooley’s anemia, is often more ...

Agios is hoping for a broad label in thalassemia, covering both alpha and beta subtypes regardless of transfusion dependence. They estimate that this market (18+) is 6,000 in the US.