Clin Pediatr Hematol Oncol.  2014 Apr;21(1):9-15.

A Clinical Study on Hereditary Hemoglobinopathy: a Single Institute Experience

Affiliations
  • 1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. pedpje@ajou.ac.kr

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 frequently 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 complications of hemoglobinopathy of children.
METHODS
Data of pediatric patients diagnosed with hemoglobinopathy from 2002 to February 2014 at Ajou University Hospital were surveyed. We analyzed patients' characteristics 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 beta thalassemia, 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 characteristics 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.

Keyword

Hemoglobinopathy; Anemia; beta thalassemia

MeSH Terms

Anemia
Anemia, Hemolytic
beta-Thalassemia
Bilirubin
Child
Diagnosis
Globins
Hematologic Tests
Hemoglobinopathies*
Humans
Korea
Molecular Biology
Prevalence
Reticulocyte Count
Retrospective Studies
Bilirubin
Globins
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