Paradise Scott L, Estep Lauren, Olson Jordan, Donaldson Keri
Department of Pathology and Laboratory Medicine, Penn State Hershey Medical Center, Hershey, PA, USA.
BMC Clin Pathol. 2014 Jan 15;14(1):4. doi: 10.1186/1472-6890-14-4.
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.
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.
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.
血红蛋白谢泼德布什（人类基因组变异协会名称：HBB:c.224G > A）是一种不稳定的血红蛋白变体，由β74位的GGC突变为GAC（甘氨酸变为天冬氨酸）所致，临床上表现为溶血性贫血或因慢性亚临床溶血导致的胆囊疾病。
我们报告了一个有这种情况的宾夕法尼亚州英裔家族，该情况最初在一名6岁女性中被发现。先证者表现为脾肿大、疲劳、深色尿液和间接胆红素升高。根据系统算法进行的血红蛋白鉴定研究及后续基因检测明确诊断为血红蛋白谢泼德布什。
据我们所知，这是在北美发现的首例这种罕见血红蛋白变体病例。它是通过系统的诊断测试算法确定的，在将罕见血红蛋白病作为鉴别诊断的一部分进行考虑时，都应遵循该算法。
