Disorders of human hemoglobin.
Studies of the human hemoglobin system have provided new insights into the regulation of expression of a group of linked human genes, the gamma-delta-beta-globin gene complex in man. In particular, the thalassemia syndromes and related disorders of man are inherited anemias that provide mutations for the study of the regulation of globin gene expression. New methods, including restriction enzyme analysis and cloning of cellular DNA, have made it feasible to define more precisely the structure and organization of the globin genes in cellular DNA. Deletions of specific globin gene fragments have already been found in certain of these disorders and have been applied in prenatal diagnosis.
D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D005319:Fetal Hemoglobin / Q000235:genetics; D005796:Genes; D008040:Genetic Linkage; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000096:biosynthesis*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009694:Nucleic Acid Precursors / Q000235:genetics; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D009694:Nucleic Acid Precursors; D012333:RNA, Messenger; D005914:Globins; D005319:Fetal Hemoglobin