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
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.