"Double-hit" ineffective erythropoiesis-concurrent β-thalassemia with α-gene triplication and myelodysplastic syndrome with SF3B1 mutation

Am J Hematol. 2023 Jun;98(6):984-988. doi: 10.1002/ajh.26856. Epub 2023 Feb 14.

Authors

Po-Han Chen¹, Elan Gorshein², Christopher Tormey³, Alexa J Siddon^{1

3}, Sudhir Perincheri¹

Affiliations

¹ Department of Pathology, Yale School of Medicine, New Haven, Connecticut, USA.
² Section of Hematology, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA.
³ Department of Laboratory Medicine, Yale New Haven Hospital, New Haven, Connecticut, USA.

PMID: 36688500
DOI: 10.1002/ajh.26856

No abstract available

Publication types

Case Reports

MeSH terms

Erythropoiesis / genetics
Humans
Mutation
Myelodysplastic Syndromes* / genetics
Phosphoproteins / genetics
RNA Splicing Factors / genetics
beta-Thalassemia* / genetics

Substances

SF3B1 protein, human
RNA Splicing Factors
Phosphoproteins