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

Armin P Piehler,Marietta Truger, Jan-Hendrik Kozik, Sandra Weissmann, Martin Schwonzen,Manja Meggendorfer,Wolfgang Kern,Torsten Haferlach,Gregor Hoermann,Claudia Haferlach

Haematologica(2024)

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摘要
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...
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