Hemoglobin S/Hemoglobin Quebec-Chori Presenting as Sickle Cell Disease: A Case Report

Erin Goode, Donna Boruchov, Jennifer L. Oliveira, Ching C. Lau

Research output: Contribution to journalArticlepeer-review

Abstract

Background:Sickle cell disease is a homozygous hemoglobinopathy with vaso-occlusive complications secondary to abnormal sickling of red blood cells under stressful conditions such as hypoxia. Children with sickle cell trait have a heterozygous genetic state, typically without symptoms.Observation:An 8-year-old boy diagnosed with sickle cell trait was found to have multiple complications consistent with sickle cell disease, including pain crises, osteomyelitis, and priapism. Over a 6-year period, he underwent routine laboratory evaluations without a definitive diagnosis. The diagnosis of a compound heterozygous state of hemoglobin S/hemoglobin Quebec-Chori was eventually made on the basis of mass spectrometry and confirmed with hemoglobin subunit beta gene sequencing.Conclusion:Expanding diagnostic evaluation in patients with abnormal clinical presentations is vital to making the correct diagnosis and hence earlier institution of appropriate management of rare hemoglobinopathies.

Original languageEnglish (US)
Pages (from-to)e775-e777
JournalJournal of Pediatric Hematology/Oncology
Volume42
Issue number8
DOIs
StatePublished - Nov 1 2020

Keywords

  • hemoglobinopathy
  • Quebec-Chori
  • sickle cell disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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