Korean J Hematol.  2007 Sep;42(3):197-205. 10.5045/kjh.2007.42.3.197.

Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006

• Cho HS
• Hah JO
• Kang IJ
• Kang HJ
• Kwak JY
• Koo HH
• Kook H
• Kim BK
• Kim SK
• Kim ST
• Kim YD
• Kim JY
• Kim CS
• Ghim T
• Kim HS
• Park SG
• Park SY
• Park JE
• Bang SM
• Seo JJ
• Suh CI
• Sohn SK
• Shin HJ
• Shin HY
• Ahn HS
• Oh D
• Yoo ES
• Lyu CJ
• Yoon SS
• Lee KS
• Lee KC
• Lee KH
• Lee SY
• Lee YH
• Lee JA
• Lee JS
• Lim YT
• Lim JY
• Im HJ
• Jeong DC
• Chong SY
• Chung JS
• Jung HL
• Cho GJ
• Jo DY
• Jin JY
• Choi EJ
• Hyun MS
• Hwang PH

• KMID: 2305194
• DOI: http://doi.org/10.5045/kjh.2007.42.3.197

Abstract

BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA.
METHODS
By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals.
RESULTS
The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient.
CONCLUSION
The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.

Keyword

Hereditary hemolytic anemia; Korea; Frequency; Etiologies

MeSH Terms

Adult
alpha-Thalassemia
Anemia, Hemolytic, Congenital*
beta-Thalassemia
Bilirubin
Cell Membrane
Diagnosis
Elliptocytosis, Hereditary
Erythrocyte Indices
Female
Hemoglobinopathies
Humans
Internal Medicine
Jaundice
Korea*
L-Lactate Dehydrogenase
Male
Oxidoreductases
Pallor
Pathology, Molecular
Pediatrics
Phosphopyruvate Hydratase
Prevalence
Pyruvate Kinase
Reticulocyte Count
Retrospective Studies*
Sex Ratio
Surveys and Questionnaires
Bilirubin
L-Lactate Dehydrogenase
Oxidoreductases
Phosphopyruvate Hydratase
Pyruvate Kinase

Figure

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  Fig. 1 The annual number of newly diagnosed patients. Abbreviations: IM, internal medicine; PD, pediatrics.

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  Fig. 2 Age distribution on diagnosis. Abbreviations: M, month; yr, year; UK, unknown; IM, internal medicine; PD, pediatrics.

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