Hemoglobinopathies Points to Remember

• Hemoglobinopathies are inherited hemoglobin variants caused by mutations in the globin genes.


• The people of Africa, the Mediterranean, or Southeast Asian descent are particularly at risk for hemoglobin variants


• Hemoglobin variants can confound the results of the A1C test, which indicates average blood glucose levels in the blood during the last 2-3 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