JOURNAL ARTICLE

Needle‐like red cell inclusions in congenital erythropoietic porphyria.

  • Published In: British Journal of Haematology, 2025, v. 206, n. 1. P. 15 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Mendoza, Ana; Crespo, María Gema; Morado, Marta 3 of 3

Abstract

The article discusses a case of congenital erythropoietic porphyria in a male fetus at 20 weeks gestation, presenting with severe hydrops fetalis and splenomegaly. The diagnosis was confirmed through fetal blood testing, peripheral blood film analysis showing needle-like red cell inclusions, and elevated coproporphyrins in amniotic fluid. The parents opted to terminate the pregnancy after a homozygous variant associated with a severe phenotype of CEP was detected in the fetus. [Extracted from the article]

Additional Information

  • Source:British Journal of Haematology. 2025/01, Vol. 206, Issue 1, p15
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2025
  • ISSN:0007-1048
  • DOI:10.1111/bjh.19875
  • Accession Number:183818297
  • Copyright Statement:Copyright of British Journal of Haematology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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