34 articles
Sickle cell-beta-thalassemia disease
Sickle cell-beta-thalassemia disease (HbS/β-thalassemia), also called sickle beta-thalassemia, is an inherited sickle cell disease from one HbS gene plus one beta-thalassemia gene; the β0 form resembles HbSS sickle cell anemia, the β+ form is milder.
Thalassaemias
Thalassaemias (also thalassemias): inherited alpha- and beta-globin disorders causing anaemia, first described 1925, commonest monogenic diseases; treated with transfusion, chelation, HSCT, and approved gene therapies Casgevy and Zynteglo.
Thalassemia
Thalassemia, an inherited autosomal recessive blood disorder of alpha- or beta-globin genes causing anemia; treated with transfusions, chelation, stem cell transplant, gene therapy (Zynteglo, Casgevy), and mitapivat.
Unstable beta globin chain variant disease
Unstable beta globin chain variant disease, also called dominant or inclusion body beta-thalassemia (ORPHA:231226), is a rare autosomal dominant hemolytic anemia caused by HBB mutations producing hyperunstable beta-globin that precipitates as Heinz bodies, causing ineffective erythropoiesis.