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Hemoglobinopathy refers to a group of genetic disorders that cause abnormal structure of one of the globin chains in the hemoglobin molecule. Common hemoglobinopathies include sickle cell disease and thalassemia. Hemoglobin variants are abnormal forms of hemoglobin that result from genetic mutations.

The HbA2 level is an important parameter in diagnosing and monitoring hemoglobinopathies. A decreased HbA2 value may occur in conditions like iron deficiency anemia, and retesting is recommended after iron supplementation. In contrast, HbA2 levels may be slightly elevated in conditions such as megaloblastic anemia and HIV.

HbA2 values between 3.3% and 3.8% require careful evaluation, particularly when considered alongside the family history of hemoglobinopathies. Values between 3.6% and 4.0% may indicate mild beta-thalassemia alleles. However, some beta-thalassemia alleles may present with normal HbA2 levels and may not be detectable using high-performance liquid chromatography (HPLC). In such cases, molecular assays may be necessary for confirmation.

This information helps healthcare providers assess the risk of hemoglobinopathies and determine the need for further genetic testing or molecular analysis.