| Literature DB >> 28249925 |
Manju Ambelil1, Nghia Nguyen1, Amitava Dasgupta1, Semyon Risin1, Amer Wahed2.
Abstract
Hemoglobinopathies, caused by mutations in the globin genes, are one of the most common inherited disorders. Many of the hemoglobin variants can be identified by hemoglobin analysis using conventional electrophoresis and high performance liquid chromatography; however hemoglobin DNA analysis may be necessary in other cases for confirmation. Here, we report a case of a rare alpha chain hemoglobin variant, hemoglobin Wayne, in a 47-year-old man who presented with secondary polycythemia. Capillary zone electrophoresis and high performance liquid chromatography revealed a significant amount of a hemoglobin variant, which was further confirmed by hemoglobin DNA sequencing as hemoglobin Wayne. Since the patient was not homozygous for hemoglobin Wayne, which is associated with secondary polycythemia, the laboratory diagnosis in this case was critical in ruling out hemoglobinopathy as the etiology of his polycythemia.Entities:
Keywords: Hemoglobinopathies; alpha globin chain variant; hemoglobin Wayne
Mesh:
Substances:
Year: 2017 PMID: 28249925
Source DB: PubMed Journal: Ann Clin Lab Sci ISSN: 0091-7370 Impact factor: 1.256