Acquired spherocytosis in the setting of myelodysplasia

Hereditary spherocytosis (HS) is the most prevalent red blood cell (RBC) membrane disorder. We report a rare case of acquired SPTB spherocytosis coinciding with a myelodysplastic syndrome associated U2AF1 mutation, neither found in germline DNA. The diagnosis was confirmed by Eosin-5-Maleimide bindi...

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Bibliographic Details
Published inLeukemia research reports Vol. 17; p. 100332
Main Authors Karlsson, Linda Katharina, Mottelson, Mathis Nygaard, Helby, Jens, Petersen, Jesper, Glenthøj, Andreas
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.01.2022
Elsevier
Subjects
Acquired hemolysis
Hemolysis
MDS
Spherocytosis
Splenectomy
Hemolysis
Splenectomy
MDS
Spherocytosis
Acquired hemolysis
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Summary:Hereditary spherocytosis (HS) is the most prevalent red blood cell (RBC) membrane disorder. We report a rare case of acquired SPTB spherocytosis coinciding with a myelodysplastic syndrome associated U2AF1 mutation, neither found in germline DNA. The diagnosis was confirmed by Eosin-5-Maleimide binding assay and Next Generation Sequencing (NGS). The patient recovered quickly after splenectomy, which confirms that his myelodysplastic syndrome (MDS)-associated U2AF1 mutation did not affect the clinical picture. This case highlights the essence of thoroughly examining the etiology of hemolytic indices, despite bone marrow morphology and myeloid gene panel supporting a diagnosis of MDS with single line dysplasia.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ObjectType-Report-1
ISSN:2213-0489
2213-0489
DOI:10.1016/j.lrr.2022.100332