Classical meets malignant hematology: a case of acquired εγδβ-thalassemia in clonal hematopoiesis

Haematologica. 2024 Mar 14. doi: 10.3324/haematol.2024.285083. Online ahead of print.ABSTRACTHemoglobinopathies 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...PMID:38497167 | DOI:10.3324/haematol.2024.285083

Source: Haematologica - March 18, 2024 Category: Hematology Authors: Armin P Piehler Marietta Truger Jan-Hendrik Kozik Sandra Weissmann Martin Schwonzen Manja Meggendorfer Wolfgang Kern Torsten Haferlach Gregor Hoermann Claudia Haferlach Source Type: research