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 ; Anemia, Hemolytic, Congenital Nonspherocytic ; Emigration and Immigration ; Favism ; Glucosephosphate Dehydrogenase ; Glucosephosphate Dehydrogenase Deficiency ; Hemolysis ; Humans ; Infant, Newborn ; Jaundice, Neonatal ; Korea ; Malaria ; Marriage ; Oxidative Stress ; Prevalence ; Splenectomy

Both autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria are common hemolytic diseases. The former causes hemolysis because of immune disorder, and the latter is an acquired clonal hematologic disorder of stem cells. The two entities are often separate diseases, but can also occur concomitantly or secondary to each other. paroxysmal nocturnal haemoglobinuria-like defect-like defect is a special type of autoimmune haemolytic anaemia and should be distinguished from typical paroxysmal nocturnal haemoglobinuria-like defect.
Anemia, Hemolytic, Autoimmune ; Hemoglobinuria, Paroxysmal ; Humans

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* ; Anemia, Hemolytic, Autoimmune ; Anemia, Hemolytic, Congenital ; Anemia, Hypochromic ; beta-Thalassemia ; Child ; Diagnosis ; Electrophoresis ; Hemoglobinopathies ; Hemoglobinuria, Paroxysmal ; Heterozygote ; Humans ; Iron ; Korea ; Membranes ; Pediatrics* ; Pyruvate Kinase ; Thalassemia

No abstract available.
Anemia, Hemolytic, Congenital Nonspherocytic*

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

No abstract available.
Anemia, Hemolytic, Autoimmune*

No abstract available.
Anemia, Hemolytic, Autoimmune*

No abstract available.
Anemia, Hemolytic, Autoimmune*

No abstract available.
Anemia, Hemolytic, Autoimmune* ; Diagnosis*

No abstract available.
Anemia, Hemolytic, Autoimmune