1.A new paradigm in the diagnosis of hereditary hemolytic anemia.
Blood Research 2013;48(4):237-239
No abstract available.
Anemia, Hemolytic, Congenital*
;
Diagnosis*
2.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*
3.A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome.
Ji Whan LIM ; Joon Hyouk CHOI ; Yang Hoon NAM ; In Seok SEO ; Seong Min YOON ; Myoung Sook KOO
Korean Journal of Hematology 2008;43(1):58-61
Congenital hemolytic anemia is mainly developed due to intrinsic defects of erythrocytes, but in some cases the cause of hemolytic anemia is unclear. Gilbert's syndrome shows mild, chronic unconjugated hyperbilirubinemia that is due to reduced UDP glucuronosyltransferase (UGT-1A1) activity and this develops because of UGT-1A1 gene mutation. We report here on a case of severe hyperbilirubinemia in a 17-year-old male who was diagnosed with congenital hemolytic anemia of an unknown cause combined with Gilbert's syndrome.
Adolescent
;
Anemia, Hemolytic
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Anemia, Hemolytic, Congenital
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Erythrocytes
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Gilbert Disease
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Glucuronosyltransferase
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Humans
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Hyperbilirubinemia
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Male
5.Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review.
Yuan LI ; Xin ZHAO ; Jian Ping LI ; Yong Hui XIA ; Yang LI ; Wen Rui YANG ; Lei YE ; Guang Xin PENG ; Xiao Bing HAN ; Yan Hong LI ; Hui Hui FAN ; Lin SONG ; Yang YANG ; Kang ZHOU ; You Zhen XIONG ; Qing Yan GAO ; Zhi Jie WU ; Li Ping JING ; Li ZHANG ; Feng kui ZHANG
Chinese Journal of Hematology 2019;40(6):518-521
6.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
;
Child
;
Diagnosis
;
Electrophoresis
;
Hemoglobinopathies
;
Hemoglobinuria, Paroxysmal
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Heterozygote
;
Humans
;
Iron
;
Korea
;
Membranes
;
Pediatrics*
;
Pyruvate Kinase
;
Thalassemia
7.A Case of Hereditary Spherocytosis with Hemolytic Anemia due to Mycoplasma pneumonia.
Hye Yeon NA ; Seon Hee SHIN ; Kyu Man LEE ; Kwang Nam KIM
Korean Journal of Pediatric Infectious Diseases 2009;16(2):215-219
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in children, with a peak incidence at 5-14 years. Extrapulmonary manifestations occur in 20-25% of patients with M. pneumoniae infection. Most auto-antibodies that cause immune hemolytic anemia in humans are cold agglutinins. The formation of cold agglutinins is frequently observed during M. pneumoniae infections, and cold agglutinin disease usually occurs during M. pneumoniae infections. Nevertheless, severe hemolysis is exceptional. If a patient has any underlying disease related to hemolysis, it is possible to accelerate hemolysis. Hereditary spherocytosis is a common cause of hereditary hemolytic anemia resulting from red blood cell membrane defects. Hemolysis of red cells may result from corpuscular abnormalities or extracorpuscular abnormalities, such as immune or non-immune mechanisms. We report a case of hereditary spherocytosis associated with severe hemolytic anemia due to Mycoplasma pneumonia.
Agglutinins
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Anemia, Hemolytic
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Anemia, Hemolytic, Autoimmune
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Anemia, Hemolytic, Congenital
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Child
;
Cold Temperature
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Cryoglobulins
;
Erythrocytes
;
Hemolysis
;
Humans
;
Incidence
;
Membranes
;
Mycoplasma
;
Mycoplasma pneumoniae
;
Pneumonia
;
Pneumonia, Mycoplasma
;
Spherocytosis, Hereditary
8.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
;
Emigration and Immigration
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Favism
;
Glucosephosphate Dehydrogenase
;
Glucosephosphate Dehydrogenase Deficiency
;
Hemolysis
;
Humans
;
Infant, Newborn
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Jaundice, Neonatal
;
Korea
;
Malaria
;
Marriage
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Oxidative Stress
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Prevalence
;
Splenectomy
10.Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia
Clinical Pediatric Hematology-Oncology 2012;19(1):1-6
The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.
Anemia, Hemolytic, Congenital
;
Erythrocytes
;
Glucosephosphate Dehydrogenase Deficiency
;
Korea
;
Molecular Biology
;
Pyruvate Kinase