2020
DOI: 10.3346/jkms.2020.35.e279
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Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997–2016: a Nationwide Retrospective Cohort Study

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 HH… Show more

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Cited by 14 publications
(33 citation statements)
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“… 15 A recent nationwide retrospective cohort study of hereditary hemolytic anemia (HHA) on the Korean pediatric population during 1997–2016 identified 369 children with HHA. 16 Among them, hemoglobinopathies were seen in only 59 patients (16%). Moreover, 16 variants of HBB gene mutations were identified in 28 Korean families; however, HbM-Milwaukee-2 was not reported.…”
Section: Discussionmentioning
confidence: 99%
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“… 15 A recent nationwide retrospective cohort study of hereditary hemolytic anemia (HHA) on the Korean pediatric population during 1997–2016 identified 369 children with HHA. 16 Among them, hemoglobinopathies were seen in only 59 patients (16%). Moreover, 16 variants of HBB gene mutations were identified in 28 Korean families; however, HbM-Milwaukee-2 was not reported.…”
Section: Discussionmentioning
confidence: 99%
“… 16 Among them, hemoglobinopathies were seen in only 59 patients (16%). Moreover, 16 variants of HBB gene mutations were identified in 28 Korean families; however, HbM-Milwaukee-2 was not reported. 16 …”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Hereditary hemolytic anemias (HHAs) are a rare but heterogeneous group of erythrocytic diseases. HHAs is characterized by the premature destruction of red blood cells (RBCs) due to intrinsic cellular defects caused by inherited genetic mutations ( Kim et al, 2017 ; Shim et al, 2020 ). HHAs contain three main etiologies, including hemoglobinopathy (e.g., thalassemia and sickle cell disease), RBC membranopathy (e.g., hereditary spherocytosis and hereditary elliptocytosis), and RBC enzymopathy (e.g., glucose-6-phosphate dehydrogenase [G6PD] deficiency, pyruvate kinase [PK] deficiency) ( Kim et al, 2017 ; Shim et al, 2020 ).…”
Section: Introductionmentioning
confidence: 99%
“…HHAs is characterized by the premature destruction of red blood cells (RBCs) due to intrinsic cellular defects caused by inherited genetic mutations ( Kim et al, 2017 ; Shim et al, 2020 ). HHAs contain three main etiologies, including hemoglobinopathy (e.g., thalassemia and sickle cell disease), RBC membranopathy (e.g., hereditary spherocytosis and hereditary elliptocytosis), and RBC enzymopathy (e.g., glucose-6-phosphate dehydrogenase [G6PD] deficiency, pyruvate kinase [PK] deficiency) ( Kim et al, 2017 ; Shim et al, 2020 ). Among HHAs, thalassemia is the most common hemoglobinopathy, with a prevalence of 1.67% in the world’s population, with an incidence of 4.4/10,000 newborns afflicted worldwide ( Chern et al, 2008 ; Kadhim et al, 2017 ).…”
Section: Introductionmentioning
confidence: 99%