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Piehler, Armin P; Truger, Marietta; Kozik, Jan-Hendrik; Weissmann, Sandra; Schwonzen, Martin; Meggendorfer, Manja; Kern, Wolfgang; Haferlach, Torsten; Hoermann, Gregor; Haferlach, Claudia
Haematologica, 03/2024, Letnik: 109, Številka: 8Journal Article
Hemoglobinopathies including thalassemias are among the most frequent genetic disorders worldwide. Primarily, these entities result from germline variants in the globin gene clusters and their cis-acting regulatory elements, and thus the WHO classifies thalassemias as inherited diseases. Non-inherited disorders of globin chain synthesis mimicking the phenotype of thalassemias have also been described and are referred to as acquired thalassemias. These forms mainly affect the alpha-globin genes and are observed at much lower frequencies...
