People who carry one gene for a hemoglobinopathy are often unaware. Several situations may indicate the presence of a hemoglobinopathy:
- when results of self-blood-glucose monitoring have a low correlation with A1C results
- when an A1C result is different than expected
- when an A1C result is more than 15 percent
- when a patient’s A1C test result is radically different from a previous test result following a change in laboratory A1C methods
Diagnosis of Hemoglobinopathies
Carrier state can easily be detected by hemoglobin electrophoresis. Most states now screen for common hemoglobin variants in newborns and report results. In addition, pre-pregnancy genetic testing and prenatal screening are done in some high-risk populations or in women with a family history of a variant. Screening may also be done in parents of children with identified variants and patients with red blood cell abnormalities, such as unexplained anemia.
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