Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria

Br J Haematol. 2021 Oct;195(2):153. doi: 10.1111/bjh.17614. Epub 2021 Jun 11.

Authors

Paul Saultier^{1

2}, Marie Loosveld^{3

4}, Isabelle Arnoux³, Barthélémy Tosello⁵, Julie Quessada³, Vincent Barlogis¹

Affiliations

¹ Pediatric Hematology, Immunology and Oncology, APHM, Marseille, France.
² Aix Marseille Univ, INSERM, INRAe, C2VN, Marseille, France.
³ Laboratory of Hematology, APHM, La Timone Hospital, Marseille, France.
⁴ Aix Marseille Univ, CNRS, INSERM, CIML, Marseille, France.
⁵ Department of Neonatology, APHM, North Hospital, Marseille, France.

PMID: 34114205
DOI: 10.1111/bjh.17614

No abstract available

Publication types

Case Reports

MeSH terms

Bone Marrow / metabolism
Bone Marrow / pathology*
Bone Marrow Cells / pathology*
Erythrocyte Transfusion / methods
Erythroid Cells / metabolism
Erythroid Cells / pathology*
Erythroid Cells / ultrastructure
Female
Hematopoietic Stem Cell Transplantation / standards
Humans
Hypertrophy, Right Ventricular / diagnosis
Hypertrophy, Right Ventricular / etiology
Infant, Newborn
Microscopy, Fluorescence / methods
Nuchal Translucency Measurement
Porphyria, Erythropoietic / blood
Porphyria, Erythropoietic / pathology*
Porphyria, Erythropoietic / therapy
Porphyria, Erythropoietic / urine
Porphyrins / blood
Porphyrins / urine

Substances

Porphyrins