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Blood Res 2013; 48(3):
Published online September 25, 2013
https://doi.org/10.5045/br.2013.48.3.211
© The Korean Society of Hematology
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology
1Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
2Department of Pediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
4Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea.
5Department of Pediatrics, University of Ulsan, Asan Medical Center, Seoul, Korea.
6Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
7Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.
8Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea.
Correspondence to : Correspondence to Jeong Ok Hah, M.D., Ph.D. Division of Hematology/Oncology, Department of Pediatrics, Yeungnam University Hospital, 170, Hyeonchung-ro, Nam-gu, Daegu 705-703, Korea. Tel: +82-53-620-3531, Fax: +82-53-629-2252, johah@med.yu.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Background
The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from a survey on the prevalence and characteristics of patients diagnosed with HHA in Korea from 2007 to 2011.
Methods
Information on patients diagnosed with HHA in Korea and their clinical and laboratory results were collected using a survey questionnaire. Globin gene and red blood cell (RBC) enzyme analyses were performed. In addition, we analyzed data collected by pediatricians.
Results
In total, 195 cases of HHA were identified. Etiologies identified for HHA were RBC membranopathies, hemoglobinopathies, and RBC enzymopathies, which accounted for 127 (64%), 39 (19.9%), and 26 (13.3%) cases, respectively. Of the 39 patients with hemoglobinopathies, 26 were confirmed by globin gene analysis, including 20 patients with β-thalassemia minor, 5 patients with α-thalassemia minor, and 1 patient with unstable hemoglobin disease.
Conclusion
The number of patients diagnosed with hemoglobinopathies and RBC enzymopathies has increased considerably since the previous survey on HHA in Korea, dated from 1997 to 2006. This is likely the result of improved diagnostic techniques. Nevertheless, there is still a need for more sensitive diagnostic tests utilizing flow cytometry and for better standardization of test results to improve the accuracy of diagnosis of RBC membranopathies in Korea. Additionally, more accurate assays for the identification of RBC enzymopathies are warranted.
Keywords Congenital hemolytic anemia, Hereditary spherocytosis, Thalassemia, Congenital nonspherocytic anemia
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Original Article
Blood Res 2013; 48(3): 211-216
Published online September 25, 2013 https://doi.org/10.5045/br.2013.48.3.211
Copyright © The Korean Society of Hematology.
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology
Eun Sil Park1, Hye Lim Jung2, Hee-Jin Kim2, Sung Sup Park3, Soon Hwan Bae4, Hee Young Shin3, Sang Hoon Song3, Kyung-Nam Koh5, Chuhl Joo Lyu6, Young Tak Lim7, Dong Kyun Han8, and Jeong Ok Hah4*
1Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
2Department of Pediatrics, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
4Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea.
5Department of Pediatrics, University of Ulsan, Asan Medical Center, Seoul, Korea.
6Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
7Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.
8Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea.
Correspondence to: Correspondence to Jeong Ok Hah, M.D., Ph.D. Division of Hematology/Oncology, Department of Pediatrics, Yeungnam University Hospital, 170, Hyeonchung-ro, Nam-gu, Daegu 705-703, Korea. Tel: +82-53-620-3531, Fax: +82-53-629-2252, johah@med.yu.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Background
The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from a survey on the prevalence and characteristics of patients diagnosed with HHA in Korea from 2007 to 2011.
Methods
Information on patients diagnosed with HHA in Korea and their clinical and laboratory results were collected using a survey questionnaire. Globin gene and red blood cell (RBC) enzyme analyses were performed. In addition, we analyzed data collected by pediatricians.
Results
In total, 195 cases of HHA were identified. Etiologies identified for HHA were RBC membranopathies, hemoglobinopathies, and RBC enzymopathies, which accounted for 127 (64%), 39 (19.9%), and 26 (13.3%) cases, respectively. Of the 39 patients with hemoglobinopathies, 26 were confirmed by globin gene analysis, including 20 patients with β-thalassemia minor, 5 patients with α-thalassemia minor, and 1 patient with unstable hemoglobin disease.
Conclusion
The number of patients diagnosed with hemoglobinopathies and RBC enzymopathies has increased considerably since the previous survey on HHA in Korea, dated from 1997 to 2006. This is likely the result of improved diagnostic techniques. Nevertheless, there is still a need for more sensitive diagnostic tests utilizing flow cytometry and for better standardization of test results to improve the accuracy of diagnosis of RBC membranopathies in Korea. Additionally, more accurate assays for the identification of RBC enzymopathies are warranted.
Keywords: Congenital hemolytic anemia, Hereditary spherocytosis, Thalassemia, Congenital nonspherocytic anemia
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Table 1 . Annual incidence of disease subtypes..
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Table 2 . Comparison of disease subtypes according to period..
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Table 3 . Genetic abnormalities of thalassemia..
a)South Asian Mother..
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Table 4 . Enzyme deficiencies in RBC enzymopathy..
Abbreviations: PK, pyruvate kinase; G6PD, glucose-6-phosphate dehydrogenase; P5N, pyrimidine 5'-nucleotidase; AK, adenylate kinase; LDH, lactate dehydrogenase; AchE, acetylcholinesterase; G3PD, glyceraldehyde-3-phosphate dehydrogenase; GPI, glucose phosphate isomerase; PFK, phosphofructokinase; GR, glutathione reductase; ADA, adenosine deaminase; PGK, phosphoglycerate kinase; MPGM, monophosphoglyceromutase; 6PGD, 6-phosphogluconic dehydrogenase..
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Table 5 . Symptoms and signs at diagnosis..
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Table 6 . Laboratory findings at diagnosis..
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Table 7 . Characteristics of patients with hereditary membranopathy according to severity..
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