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1. ヘモグロビン分析法およびヘモグロビン異常症を特定するための検査法methods for hemoglobin analysis and hemoglobinopathy testing [show details]
… of alpha thalassemia) causes both hemolysis and ineffective erythropoiesis. Anemia may be severe, such as in transfusion-dependent alpha or beta thalassemia (TDT; formerly called thalassemia major). Sickle …
2. ヘモグロビン変異の概要introduction to hemoglobin mutations [show details]
…gene product, and the efficiency with which the abnormal hemoglobin is assembled. Beta globin mutations – In heterozygotes, beta globin mutant hemoglobins generally comprise approximately 50 percent of …
3. 異常ヘモグロビン症の出生前スクリーニングおよび検査prenatal screening and testing for hemoglobinopathy [show details]
…prenatal hemoglobinopathy screening is to identify and counsel asymptomatic individuals whose offspring are at risk of an inherited hemoglobinopathy. Prenatal diagnosis of fetal hemoglobinopathy is offered …
4. サラセミアの臨床症状および診断clinical manifestations and diagnosis of the thalassemias [show details]
… which malaria was (or is) endemic. Thalassemia is the most common hemoglobinopathy . It has been estimated that 5 percent of the world population has at least one thalassemia variant allele, with as many as …
5. 不安定ヘモグロビン変異体unstable hemoglobin variants [show details]
…as osmotic fragility and eosin-5 maleimide binding. Other hemoglobinopathies – Other inherited hemoglobinopathies include the thalassemias, sickle cell disease (SCD), hemoglobin C (HbC), and others; …