1.Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology.
Eun Sil PARK ; Hye Lim JUNG ; Hee Jin KIM ; Sung Sup PARK ; Soon Hwan BAE ; Hee Young SHIN ; Sang Hoon SONG ; Kyung Nam KOH ; Chuhl Joo LYU ; Young Tak LIM ; Dong Kyun HAN ; Jeong Ok HAH
Blood Research 2013;48(3):211-216
BACKGROUND: The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder. Here, we report data from a survey on the prevalence and characteristics of patients diagnosed with HHA in Korea from 2007 to 2011. METHODS: Information on patients diagnosed with HHA in Korea and their clinical and laboratory results were collected using a survey questionnaire. Globin gene and red blood cell (RBC) enzyme analyses were performed. In addition, we analyzed data collected by pediatricians. RESULTS: In total, 195 cases of HHA were identified. Etiologies identified for HHA were RBC membranopathies, hemoglobinopathies, and RBC enzymopathies, which accounted for 127 (64%), 39 (19.9%), and 26 (13.3%) cases, respectively. Of the 39 patients with hemoglobinopathies, 26 were confirmed by globin gene analysis, including 20 patients with beta-thalassemia minor, 5 patients with alpha-thalassemia minor, and 1 patient with unstable hemoglobin disease. CONCLUSION: The number of patients diagnosed with hemoglobinopathies and RBC enzymopathies has increased considerably since the previous survey on HHA in Korea, dated from 1997 to 2006. This is likely the result of improved diagnostic techniques. Nevertheless, there is still a need for more sensitive diagnostic tests utilizing flow cytometry and for better standardization of test results to improve the accuracy of diagnosis of RBC membranopathies in Korea. Additionally, more accurate assays for the identification of RBC enzymopathies are warranted.
alpha-Thalassemia
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Anemia, Hemolytic, Congenital
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beta-Thalassemia
;
Diagnostic Tests, Routine
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Erythrocytes
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Flow Cytometry
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Globins
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Hematology
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Hemoglobinopathies
;
Hemoglobins
;
Humans
;
Korea
;
Prevalence
;
Spherocytosis, Hereditary
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Thalassemia
;
Surveys and Questionnaires
2.Glucose-6-phosphate Dehydrogenase Deficiency
Clinical Pediatric Hematology-Oncology 2015;22(1):1-7
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder. There are more than 400 million people worldwide with G6PD deficiency, and its distribution is similar to that of malaria. G6PD deficiency is an X-linked recessive disorder. Most patients with G6PD deficiency may be asymptomatic throughout their lives. They may present as neonatal jaundice, or acute and chronic hemolysis. The most important point in the management of G6PD deficiency is to avoid oxidative stress. The prevalence of G6PD deficiency in Korea is about 0.9%. However, a nationwide survey has revealed that the number of patients with enzymopathy is increasing. Immigration of different ethnicities into Korea, and the rise of interracial marriages will likely lead to an increase in the number of patients with G6PD deficiency.
Anemia, Hemolytic, Congenital
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Anemia, Hemolytic, Congenital Nonspherocytic
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Emigration and Immigration
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Favism
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Glucosephosphate Dehydrogenase
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Glucosephosphate Dehydrogenase Deficiency
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Hemolysis
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Humans
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Infant, Newborn
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Jaundice, Neonatal
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Korea
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Malaria
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Marriage
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Oxidative Stress
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Prevalence
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Splenectomy
3.Hereditary Hemolytic Anemia in Korea: a Retrospective Study from 1997 to 2006.
Hee Soon CHO ; Jeong Ok HAH ; Im Ju KANG ; Hyung Jin KANG ; Jae Yong KWAK ; Hong Hoe KOO ; Hoon KOOK ; Byoung Kook KIM ; Soon Ki KIM ; Seung Taik KIM ; Young Dae KIM ; Ji Yoon KIM ; Chul Soo KIM ; Thad GHIM ; Heung Sik KIM ; Sang Gyu PARK ; Seon Yang PARK ; Jun Eun PARK ; Soo Mee BANG ; Jong Jin SEO ; Chang In SUH ; Sang Kyun SOHN ; Ho Jin SHIN ; Hee Young SHIN ; Hyo Sup AHN ; Doyeun OH ; Eun Sun YOO ; Chuhl Joo LYU ; Sung Soo YOON ; Kun Soo LEE ; Kwang Chul LEE ; Kee Hyun LEE ; Soon Yong LEE ; Young Ho LEE ; Jung Ae LEE ; Jong Seok LEE ; Young Tak LIM ; Jae Young LIM ; Ho Joon IM ; Dae Chul JEONG ; So Young CHONG ; Joo Seop CHUNG ; Hye Lim JUNG ; Goon Jae CHO ; Deog Yeon JO ; Jong Youl JIN ; Eun Jin CHOI ; Myung Soo HYUN ; Pyung Han HWANG
Korean Journal of Hematology 2007;42(3):197-205
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.
Adult
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alpha-Thalassemia
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Anemia, Hemolytic, Congenital*
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beta-Thalassemia
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Bilirubin
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Cell Membrane
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Diagnosis
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Elliptocytosis, Hereditary
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Erythrocyte Indices
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Female
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Hemoglobinopathies
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Humans
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Internal Medicine
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Jaundice
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Korea*
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L-Lactate Dehydrogenase
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Male
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Oxidoreductases
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Pallor
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Pathology, Molecular
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Pediatrics
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Phosphopyruvate Hydratase
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Prevalence
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Pyruvate Kinase
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Reticulocyte Count
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Retrospective Studies*
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Sex Ratio
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Surveys and Questionnaires
4.A Case of Congenital Nonspherocytic Hemolytic Anemia.
Tae Sook KIM ; Sang Bae JEON ; Bok Yang PYUN
Journal of the Korean Pediatric Society 1985;28(6):597-603
No abstract available.
Anemia, Hemolytic, Congenital Nonspherocytic*
5.Hemolytic anemia in pediatrics.
Korean Journal of Pediatrics 2007;50(6):511-518
To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hereditary and acquired HA are described. The hereditary hemolytic anemia (HHA) can be classified according to the pathogenesis into three types:RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics, laboratory findings and molecular defects of these three types are presented briefly. In Korea, HHA due to the RBC membrane defect, hereditary spherocytosis had been reported often but HHA due to hemoglobinopathies and RBC enzymopathies had been thought to be relatively rare. With recent development in the molecular diagnosis, beta thalassemia, mostly heterozygote, G6PD and pyruvate kinase deficiency have been reported with gene characterization. If the patients with microcytic hypochromic anemia show unproportionally low MCV or MCH or refractory to the iron therapy, hemoglobin electrophoresis and gene analysis for thalassemia or other unstable hemoglobinopathies need to be done accordingly. The global movement of the population especially from the region prevalent of hemoglobinopathies or enzymopathies to Korea warrants considering broad spectrum of etiology for the diagnosis of HHA. Aquired HA resulting from extracellular factors such as autoimmune HA from warm antibody, cold agglutinin and paroxysmal cold hemoglobinuria as well as nonimmune HA are described briefly.
Anemia, Hemolytic*
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Anemia, Hemolytic, Autoimmune
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Anemia, Hemolytic, Congenital
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Anemia, Hypochromic
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beta-Thalassemia
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Child
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Diagnosis
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Electrophoresis
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Hemoglobinopathies
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Hemoglobinuria, Paroxysmal
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Heterozygote
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Humans
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Iron
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Korea
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Membranes
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Pediatrics*
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Pyruvate Kinase
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Thalassemia
6.Hereditary Hemolytic Anemia.
Journal of the Korean Medical Association 2006;49(10):908-919
The hereditary hemolytic anemia (HHA) can be classified into three types according to the pathogenesis: RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics of these three types of HHA are presented briefly in this paper. In Korea, HHA due to RBC membrane defect such as hereditary spherocytosis had been relatively well recognized, while HHA due to hemoglobinopathies and RBC enzymopathies had been considered rare. However, with the recent development of molecular testing, beta thalassemia, G6PD and pyruvate kinase deficiency have been reported with identification of disease-causing mutations. If a patient with microcytic hypochromic anemia shows unproportionally low MCV or MCH or refractory to iron therapy, hemoglobin electrophoresis and gene study for thalassemia or other unstable hemoglobinopathies are needed. It should be noted that the recent population migration to Korea from the regions where hemoglobinopathies or enzymopathies are prevalent warrants considering a broad spectrum of etiologies for the diagnosis of HHA.
Anemia, Hemolytic, Congenital*
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Anemia, Hypochromic
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beta-Thalassemia
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Diagnosis
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Electrophoresis
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Hemoglobinopathies
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Humans
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Iron
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Korea
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Membranes
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Pyruvate Kinase
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Thalassemia
8.Genotype Analysis of Patients with Thalassemia in Sanya Area of Hainan Province in China.
Mengi LI ; Song-He XIANG ; Yi DING ; Wen-Wen LIU ; Yuan-Yuan XU ; Jian BO
Journal of Experimental Hematology 2018;26(4):1146-1150
OBJECTIVETo explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China.
METHODSThe type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB).
RESULTSThe detection on mutation of thalassemia gene were found in 539 suspected thalassemia patients, the total detected rate was 50.85% (539/1060), out of them 330 (31.13%) were diagnosed with α-thalassemia, 162 (15.28%) with β-thalassemia, and 47 (4.43%) as carriers of both α and β-thalassemia. In α-thalassemia patients, genotype were as follows in proper order--SEA/αα (9.25%)、-α /αα (5.94%),HbH (5.56%),-α /αα (5.00%),-α /-α (2.36%),-α /-α (1.70%), and -α/-α(1.32%). In β-thalassemia patients, there were 9 gene mutations: CD41-42 (9.8%), CD17 (1.32%), 654 (1.23%), CD71-72 (1.23%), IVS-II-654 (1.04%), -28 (0.37%), CD43 (0.19%), -29 (0.18%) and βE (0.09%). In the α and β composite thalassemia there were 12 genotypes. The -α/αα was the most common genotype co-existed with β-thalassemia (1.70%), followed by the -α /αα genotype (0.94%).
CONCLUSIONThe data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province, which can contribute to set up the strategies for the prevention and control of thalassemia in this area.
China ; Genotype ; Heterozygote ; Humans ; Mutation ; alpha-Thalassemia ; beta-Thalassemia
9.Genotyping of Patients with α and β Thalassemia in Fujian Province Area in China.
Yu-Hong LIN ; Wei LIN ; Xiao-Xian WANG
Journal of Experimental Hematology 2019;27(3):899-903
OBJECTIVE:
To investigate the gene-carrying rate and gene mutation types of α- and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2 (HbA2), mean cell volume (MCV) and mean cell hemoglobin (MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia.
METHODS:
Total 1474 samples from different areas of Fujian province were detected for α- and β-thalassemsia genotypes by gap single PCR (GS-PCR) combined with reverse dot blot hybridization (RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test.
RESULTS:
Among the detected 1474 samples, 704 (47.76%) were diagnosed as α-thalassemia, out of them 416 (28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21 (1.43%) as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent (5.09%), minor (22.18%) and HbH disease (0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference (P<0.05).
CONCLUSION
The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is --/αα, the gene type in β-thalassemia mostly is IVS-Ⅱ-654. Moreover, the sings of anemia in Hb H disease of α-thalassemia are mostly serious, which obviously are different from other types of α-thalassemia.
China
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Genotype
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Hemoglobin A2
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Humans
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alpha-Thalassemia
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beta-Thalassemia
10.Analysis of Gene Mutation Types of Thalassemia in Fuzhou Area of China.
Peng-Ju CAO ; Liang-Yuan CHEN ; Li-Li JIANG ; Yang YANG ; Shao-Ting CHEN ; Chun-Li HUANG ; Qiu-Qin ZHANG ; Qiu-Mei WU ; Fa-Lin CHEN
Journal of Experimental Hematology 2019;27(3):893-898
OBJECTIVE:
To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China.
METHODS:
Thalassemia gene screening was performed in the women receiving physical, prenatal, and pre-pregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR.
RESULTS:
1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%; 409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-β complex thalassemia with a positive rate of 0.72%. the --/αα(76.54%) was the most common genotype among α-thalassemia, -α/αα(10.03%) and -α/αα(2.91%) in hot pursuit. In addition, IVS-II-55 (T->G) and IVS-II-119 (-G, +CTCGGCCC) were newly found alpha mutations; the IVS-2-654 (C→T) (40.83%) was the most common genotype among β-thalassemia, CD41-42 (-TCTT) (35.94%) and CD17 (A→T) (9.78%) in hot pursuit.
CONCLUSION
The genotype of thalassemia in Fuzhou area is highly heterogenic, --/αα is the most common genotype among α-thalassemia, IVS-2-654 (C→T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias.
China
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Female
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Genotype
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Humans
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Mutation
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Pregnancy
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alpha-Thalassemia
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beta-Thalassemia