JOURNAL ARTICLE

A case of pediatric hemoglobinopathy diagnosed through the evaluation of unexplained cyanosis.

  • Published In: Pediatrics International, 2025, v. 67, n. 1. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Shinohara, Tamao; Fukao, Toshimichi; Saito, Tomohiro; Koizumi, Keiichi 3 of 3

Abstract

The article focuses on a case study of a 3-year-old boy in Japan who presented with unexplained cyanosis and low oxygen saturation, ultimately diagnosed with a β‐globin variant hemoglobinopathy. Despite initial treatments and investigations ruling out common causes of cyanosis, genetic testing revealed a novel heterozygous missense variant in the β‐globin gene, classified as a variant of uncertain significance. The case underscores the importance of considering hemoglobinopathies in pediatric patients with persistent cyanosis, particularly when there is a family history of low oxygen saturation. The findings highlight the need for targeted hematologic testing to avoid unnecessary treatments and investigations. [Extracted from the article]

Additional Information

  • Source:Pediatrics International. 2025/01, Vol. 67, Issue 1, p1
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2025
  • ISSN:1328-8067
  • DOI:10.1111/ped.70251
  • Accession Number:190445301
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