한국 유전용혈빈혈의 10년간 후향적 역학 연구(2007년-2016년): 대한혈액학회 적혈구질환연구회 보고

한국 유전용혈빈혈의 10년간 후향적 역학 연구(2007년-2016년): 대한혈액학회 적혈구질환연구회 보고

Retrospective epidemiology study of Korean hereditary hemolytic anemia for 10 years (2007-2016): a study by Red Blood Cell Disorder Working Party of Korean Society of Hematology

(구연):
Release Date : 2017. 10. 26(목)
Ye Jee Shim, Eun Mi Choi, Heung Sik Kim1, Eu Jeen Yang, Young Tak Lim2, Jae Min Lee3, Jeong Ok Hah4, Ji Won Lee, Keon Hee Yoo, Ki Woong Sung, Hong Hoe Koo5, Hee Jo Baek, Hoon Kook6, Eun Sil Park, Jae Young Lim 7, Hee Won Chueh8, Seongkoo Kim, Jae Wook Lee, Nack-Gyun Chung, Bin Cho, Dae Chul Jeong9, Jin Kyung Suh, Ji Yoon Kim, Kun Soo Lee10, Hyery Kim, Kyung-Nam Koh, Ho Joon Im, Jong Jin Seo 11, Soon Ki Kim12, Hyoung Soo Choi13, Young-Ho Lee 14, Jae Hee Lee 15, Meerim Park 16, Sang Kyu Park17, Ji Kyoung Park 18, Eun Sun Yoo, Kyung-Ha Ryu 19, Na Hee Lee 20, Seom Gim Kong 21, Seong Wook Lee 22 , Hye Lim Jung 23
Keimyung University Dongsan Medical Center Pediatrics1
Pusan National University Children's Hospital Pediatrics2
Yeungnam University College of Medicine Pediatrics3
Daegu Fatima Hospital Pediatrics4
Samsung Medical Center Pediatrics5
Sungkyunkwan University School of Medicine Pediatrics6
Gyeongsang National University Hospital Pediatrics7
Dong-A University College of Medicine Pediatrics8
The Catholic University of Korea Seoul St. Mary's Hospital Pediatrics9
Kyungpook National University Hospital Pediatrics10
The Catholic University of Korea Seoul St. Mary's Hospital Pediatrics11
Inha University School of Medicine Pediatrics12
Seoul National Univesity Bundang Hospital Pediatrics13
Hanyang University Medical Center Pediatrics14
Chosun University Hospital Pediatrics15
Chungbuk National University College of Medicine Pediatrics16
Ulsan University Hospital Pediatrics17
Inje University Busan Paik Hospital Pediatrics18
Chungbuk National University College of Medicine Pediatrics19
CHA University Bundang CHA Hospital Pediatrics20
Kosin University Gaspel Hospital Pediatrics21
Korea University Ansan Hospital Pediatrics22
Sungkyunkwan University Kangbuk Samsung Hospital Pediatrics23
심예지, 최은미, 김흥식1, 양유진, 임영탁2, 이재민3, 하정옥4, 이지원, 유건희, 성기웅, 구홍회5, 백희조, 국훈6, 박은실, 임재영7, 최희원8, 김성구, 이재욱, 정낙균, 조빈, 정대철9, 서진경, 김지윤, 이건수10, 김혜리, 고경남, 임호준, 서종진11, 김순기12, 최형수13, 이영호14, 이재희15, 박미림16, 박상규17, 박지경18, 유은선, 유경하19, 이나희20, 공섬김21, 이성욱22 , 정혜림23
계명대학교 동산병원 소아청소년과1
부산대학교 어린이병원 소아청소년과2
영남대학교 의과대학 소아청소년과3
대구파티마병원 소아청소년과4
성균관대학교 의과대학 삼성서울병원 소아청소년과5
전남대학교 의과대학 화순전남대학교병원 소아청소년과6
경상대학교병원 소아청소년과7
동아대학교 의과대학 소아청소년과8
가톨릭대학교 서울성모병원 소아청소년과9
경북대학교병원 소아청소년과10
울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과11
인하대학교 의학전문대학원 소아청소년과12
분당서울대학교병원 소아청소년과13
한양대학교병원 소아청소년과14
조선대학교병원 소아청소년과15
충북대학교 의과대학 소아청소년과16
울산대학교병원 소아청소년과17
인제대학교 부산백병원 소아청소년과18
이화여자대학교 의과대학 소아청소년과19
차 의과대학교 분당차병원 소아청소년과20
고신대학교 복음병원 소아청소년과21
고려대학교 안산병원 소아청소년과22
성균관대학교 강북삼성병원 소아청소년과23

Abstract

Background: Hereditary hemolytic anemia (HHA) occurs when the red blood cells (RBCs) are destroyed earlier than normal lifespan and removed from the circulating blood. HHA is generally classified as RBC membranopathies, hemoglobinopathies, and RBC enzymopathies, depending on the etiology. Recently, more accurate confirmation of HHA is possible by improving diagnostic techniques. Methods: Patient information, clinical manifestations, and laboratory findings of Korean HHA patients from 2007 to 2016 were retrospectively collected using a survey questionnaire. Results: Initially, a total of 342 cases were collected from the 31 hospitals. Among them, 9 duplicated patients, 2 AIHA, 1 PNH, 1 MDS were excluded. Finally, 329 HHA patients (male : female = 186 : 143) were investigated. RBC membranopathies were 239 (72.6%), hemoglobinopathies were 45 (13.7%), RBC enzymopathies were 21 (6.4%), congenital dyserythropoietic anemia was 1 (0.3%), and unknown etiology were 23 (7.0%). In RBC membranopathies, 230 patients were hereditary spherocytosis, 9 were hereditary eliptocytosis, and 102 had family history of HHA. Fifty HS patients were confirmed by genetic test; SPTB gene mutation was most common (29/50, 58.0%). In hemoglobinopathies, 21 patients’ mother were foreigner (12 Vietnam, 4 Cambodia, 1 China, 1 Thailand, 1 Singapore, 1 Venezuela, and 1 unknown) and 17 patients had family history of HHA. The 28 hemoglobinopathies were confirmed by genetic test; β-thalassemia minor 20, α-thalassemia minor 7, and unstable hemoglobin disease 1. In RBC enzymopathies, 1 patient was a foreigner (father from France and mother from Mauritius) and 1 patient’ mother was a foreigner (Canada). Five patients had family history of HHA. Eighteen enzymopathies were confirmed by genetic or enzyme level test; 12 pyruvate kinase deficiencies, 5 glucose-6-phosphate dehydrogenase deficiencies, and 1 enolase deficiency. Conclusion: The number of subjects with hemoglobinopathies or RBC enzymopathies are significantly increasing compare to the previous report, 1997-2006. As international marriages are increases, thalassemia traits are increasing. The increasing recognition of RBC enzymopathies is probably due to the development of diagnostic techniques, including genetic analysis. However, more accessible and accurate assays for the identification of unknown origin HHA are necessary.

Keywords: Congenital hemolytic anemia, Nonimmune hemolytic anemia, Thalassemia