Hemoglobinopathies are inherited hemoglobin variants caused by globin gene mutations.
People of African, Mediterranean, or Southeast Asian descent are particularly at risk for having hemoglobin variants.
Hemoglobin variants may confound results of the A1C test, which indicates average blood glucose levels over the preceding 2 to 3 months.
False A1C test results can lead to false diagnosis or over-treatment or under-treatment of diabetes in people with hemoglobinopathies.
Information to assist in selecting the best assay methods is available from the National Glycohemoglobin Standardization Program (NGSP).
The most common hemoglobin variants include hemoglobin S, C, and E.
People who are homozygous for a hemoglobin variant may have a disease condition—for example, those who are homozygous for the hemoglobin S variant have sickle cell anemia. Those who are heterozygous for a variant are said to have a trait or to be carriers and are usually asymptomatic.
A booklet for people with diabetes about hemoglobin variants and the A1C test, For People of African, Mediterranean, or Southeast Asian Heritage: Important Information about Diabetes Blood Tests, is available from the National Diabetes Information Clearinghouse or online at www.diabetes.niddk.nih.gov/dm/pubs/traitA1C.
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