Abstract
Hemoglobinopathy is defined as mutations that change the amino acid sequence of one of the globin chains. More than 800 hemoglobin variants have been identified in the world. The frequency of mutant variants is estimated to be about one per 3,000. Recently, hemoglobinopathies have been found among individuals with a high or low hemoglobin A1c level or with an abnormal chromatogram pattern. We encountered hemoglobinopathy of four patients in two unrelated families. The disease is hereditary and it is necessary to recognize its appearance in areas with little migration of inhabitants. As hemoglobin A1c may be measured even if it is an unusual chromatogram, we require attention to the chromatogram pattern. Although it is necessary to fully consider gene analysis, in order to avoid unnecessary inspection and medical treatment, we believe that it is important for patients to understand their own morbidity. We must offer suitable information and recommend an appropriate examination for the clinical aspect.
