Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they had a 25% chance of having a thalassemia major
To evaluate the impact of mitapivat vs placebo on fatigue, physical function, and other thalassemia symptoms in adults with α- or β-NTDT in ENERGIZE, a phase 3, double-blind, randomized, placebo-controlled, global trial. Adults (≥18 years) were randomized 2:1 to mitapivat 100 mg ...
Beta-thalassemia is one of most common autosomal recessive disorders worldwide. High prevalence is present in populations in the Mediterranean, Middle-East, Transcaucasus, Central Asia, Indian subcontinent, and Far East. It is also relatively common in populations of African descent. The highest inci...
The term thalassemia is derived from the Greek, thalassa (sea) and haima (blood). Beta-thalassemia includes three main forms: Thalassemia Major, variably referred to as "Cooley's Anemia" and "Mediterranean Anemia", Thalassemia Intermedia and Thalassemia Minor also called "beta-thalassemia carrier",...
Two nonfunctional genes (αα/–) gives rise to a mild anemia (α thalassemia minor syndrome). A single nonfunctional α-globin gene is clinically silent. For the β thalassemias (with two β-globin gene loci), mutations on both of the β-globin gene loci result in homozygous disease;...
COVID-19; SARS-CoV-2; respiratory distress; beta thalassemia; minor; immunization; heme1. Introduction The world has had to face a COVID-19 pandemic for two years, followed by successive waves of SARS-CoV-2 variants. This infection was first discovered in December 2019 in the South China ...
The spectrum of beta-thalassemias ranges from thalassemia minor, which presents as mild hypochromic microcytic anemia without significant clinical symptoms, to beta-thalassemia major (β-TM), which is characterized by severe anemia starting in early childhood and requiring lifelong regular blood ...