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.

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.

• Authors: Scott L Paradise, Lauren Estep, Jordan Olson, Keri Donaldson
• Journal: BMC clinical pathology (BMC Clin Pathol) Vol. 14 Issue 1 Pg. 4 (Jan 15 2014) ISSN: 1472-6890 [Print] England
• PMID: 24428873 (Publication Type: Case Reports)