J Korean Med Sci.  2020 Aug;35(33):e279. 10.3346/jkms.2020.35.e279.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

• Shim YJ
• Jung HL
• Shin HY
• Kang HJ
• Choi JY
• Hah JO
• Lee JM
• Lim YT
• Yang EJ
• Baek HJ
• Choi HS
• Yoo KH
• Park JE
• Kim S
• Kim JY
• Park ES
• Im HJ
• Chueh HW
• Kim SK
• Lee JH
• Yoo ES
• Park HJ
• Lee JA
• Park M
• Kang HS
• Park JK
• Lee NH
• Park SK
• Lee YH
• Lee SW
• Choi EJ
• Kong SG

• KMID: 2505595
• DOI: http://doi.org/10.3346/jkms.2020.35.e279

Abstract

Background
Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA.
Methods
We collected the data of a newly diagnosed pediatric HHA cohort (2007–2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997–2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey.
Results
A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia.
Conclusion
In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.

Keyword

Congenital Hemolytic Anemia; Hereditary Spherocytosis; Hemoglobinopathies; Thalassemia; Glucose-6-phosphate Dehydrogenase Deficiency; Pyruvate Kinase

Figure

• 

  Fig. 1 Standard operating procedure for the diagnosis of HHA by the RBC Disorder Working Party of the Korean Society of Hematology.515HHA = hereditary hemolytic anemia, CBC = complete blood count, RBC = red blood cell, PB = peripheral blood, TIBC = total iron binding capacity, LDH = lactate dehydrogenase, EP = electrophoresis, OF = osmotic fragility, RT = room temperature, EMA = eosin 5-maleimide, LC-MS/MS = liquid chromatography-tandem mass spectrometry, UPLC-MS/MS = ultra-performance liquid chromatography-tandem mass spectrometry.

• 

  Fig. 2 Process of collection of HHA data from 38 hospitals in Korea.AIHA = autoimmune hemolytic anemia, PNH = paroxysmal nocturnal hemoglobinuria, MDS = myelodysplastic syndrome, CDA = congenital dyserythropoietic anemia, HHA = hereditary hemolytic anemia.

• 

  Fig. 3 Significant increase in detection rates of hemoglobinopathies and RBC enzymopathies among Korean children.RBC = red blood cell.

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