title: First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family.
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.
  
  
  METHODS
  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.
authors.forename: Scott L
authors.initials: SL
authors.lastname: Paradise
authors.forename: Lauren
authors.initials: L
authors.lastname: Estep
authors.affiliation: Department of Pathology and Laboratory Medicine, Penn State Hershey Medical Center, Hershey, PA, USA. jolson1@hmc.psu.edu.
authors.forename: Jordan
authors.initials: J
authors.lastname: Olson
authors.forename: Keri
authors.initials: K
authors.lastname: Donaldson