A Clinical Study on Hereditary Hemoglobinopathy: a Single Institute Experience

Abstract

Background: Hemoglobinopathy is inherited anemia characterized by abnormal structure of one of the globin chains of the hemoglobin molecule and has been known to be rare in Korea. However, hemoglobinopathy in children has been reported more fre-quently than in past with the recent advancement of molecular testing. The purpose of this study was to investigate the clinical and laboratory findings, prevalence and com-plications of hemoglobinopathy of children.

Methods:Hospital were surveyed. We analyzed patients’ charac-teristics from clinical and laboratory findings retrospectively.

Results: Among a total of 10 children who were diagnosed with hemoglobinopathy, 9 patients were confirmed hemoglobinopathy by gene analysis. Eight patients had β tha-lassemia, 1 hemoglobin D disease, and 1 hemoglobin Koriyama. In most of the children, anemia was found incidentally and most of the children did not have symptoms. In the initial blood test, their mean hemoglobin concentration was 10.0 g/dL (range: 4.7-11.2 g/dL), mean corrected reticulocyte count was 3.9% (range: 0.9%-12.2%), and mean total bilirubin level was 1.0 mg/dL (range: 0.3-5.8 mg/dL).

Conclusion: The analysis of clinical and laboratory features showed that the character-istics of each type of hemoglobinopathy were similar to that previously reported. We recommend considering hemoglobinopathy if pediatric patient presents with hemolytic anemia. A well organized diagnostic approach including molecular genetic analysis is needed for accurate diagnoses and appropriate management of hemoglobinopathy.