First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family

Scott L. Paradise, Lauren Estep, Jordan Olson, Keri Donaldson

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G > A) is an unstable hemoglobin variant resulting from a β 74 GGC to GAC mutation (Gly to Asp) that manifests clinically as hemolytic anemia or gall bladder disease due to chronic subclinical hemolysis. Case presentation. We report a Pennsylvania family of English descent with this condition, first noticed in a 6-year-old female. The proband presented with splenomegaly, fatigue, dark urine and an elevated indirect bilirubin. Hemoglobin identification studies and subsequent genetic testing performed according to a systematic algorithm elucidated the diagnosis of Hb Shepherds Bush. Conclusions: This is the first case of this rare hemoglobin variant identified in North America to our knowledge. It was identified using a systematic algorithm of diagnostic tests that should be followed whenever considering a rare hemoglobinopathy as part of the differential diagnosis.

Original languageEnglish (US)
Article number4
JournalBMC Clinical Pathology
Volume14
Issue number1
DOIs
StatePublished - Jan 15 2014

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology

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