Blood Res.  2013 Sep;48(3):211-216. 10.5045/br.2013.48.3.211.

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

Affiliations
  • 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. johah@med.yu.ac.kr
  • 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.

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 beta-thalassemia minor, 5 patients with alpha-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.

Keyword

Congenital hemolytic anemia; Hereditary spherocytosis; Thalassemia; Congenital nonspherocytic anemia

MeSH Terms

alpha-Thalassemia
Anemia, Hemolytic, Congenital
beta-Thalassemia
Diagnostic Tests, Routine
Erythrocytes
Flow Cytometry
Globins
Hematology
Hemoglobinopathies
Hemoglobins
Humans
Korea
Prevalence
Spherocytosis, Hereditary
Thalassemia
Surveys and Questionnaires
Globins
Hemoglobins

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Reference

1. Grace RF, Lux SE. Disorders of the erythrocyte membrane. In : Nathan DG, Orkin SH, Ginsburg D, Look AT, Fisher DE, Lux S, editors. Nathan and Oski's hematology of infancy and childhood. 7th ed. Philadelphia, PA: Elsevier-Saunders;2009. p. 659–838.
2. William CM. Pyruvate kinase deficiency and disorders of glycolysis. In : Nathan DG, Orkin SH, Ginsburg D, Look AT, Fisher DE, Lux S, editors. Nathan and Oski's hematology of infancy and childhood. 7th ed. Philadelphia, PA: Elsevier-Saunders;2009. p. 839–882.
3. Ahn DH, Shon KC, Kang IJ, et al. Statistical analysis of hemolytic anemia in Korea. Korean J Hematol. 1991; 26:445–461.
4. Cho HS, Hah JO, Kang IJ, et al. Hereditary hemolytic anemia in Korea: a retrospective study from 1997 to 2006. Korean J Hematol. 2007; 42:197–205.
Article
5. Park SS, Lee YJ, Kim JY, et al. Beta-thalassemia in the Korean population. Hemoglobin. 2002; 26:135–145. PMID: 12144056.
6. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008; 372:1411–1426. PMID: 18940465.
Article
7. Won DI. Flow-assisted differential diagnosis of hemolytic anemia with spherocytosis: a case report. Korean J Lab Med. 2010; 30:339–344. PMID: 20805704.
Article
8. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012; 156:37–49. PMID: 22055020.
Article
9. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol. 2004; 126:455–474. PMID: 15287938.
Article
10. Rescorla FJ, Engum SA, West KW, Tres Scherer LR 3rd, Rouse TM, Grosfeld JL. Laparoscopic splenectomy has become the gold standard in children. Am Surg. 2002; 68:297–301. PMID: 11894857.
11. Farah RA, Rogers ZR, Thompson WR, Hicks BA, Guzzetta PC, Buchanan GR. Comparison of laparoscopic and open splenectomy in children with hematologic disorders. J Pediatr. 1997; 131:41–46. PMID: 9255190.
Article
12. Crary SE, Buchanan GR. Vascular complications after splenectomy for hematologic disorders. Blood. 2009; 114:2861–2868. PMID: 19636061.
Article
13. Hansen K, Singer DB. Asplenic-hyposplenic overwhelming sepsis: postsplenectomy sepsis revisited. Pediatr Dev Pathol. 2001; 4:105–121. PMID: 11178626.
Article
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