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 journalArticle

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

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Viperidae
Hemoglobins
Gallbladder Diseases
Hemoglobinopathies
Hemolytic Anemia
Splenomegaly
Genetic Testing
Human Genome
North America
Hemolysis
Bilirubin
Routine Diagnostic Tests
Names
Fatigue
Differential Diagnosis
Urine
Mutation
hemoglobin Shepherds Bush

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology

Cite this

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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.",
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First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family. / Paradise, Scott L.; Estep, Lauren; Olson, Jordan; Donaldson, Keri.

In: BMC Clinical Pathology, Vol. 14, No. 1, 4, 15.01.2014.

Research output: Contribution to journalArticle

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