title: [Clinical significance of ontogenetic abnormalities of hemoglobin synthesis].
abstract: Hemoglobin consists of four globin chains linked by 4 hem molecules. Differences between hemoglobin species are due to dissimilarity of amino acid sequence in globin chains accounting for different solubility, affinity to oxygen, and interaction with nitrogen. The hem component is the same in all hemoglobins. Anomalous activity of hem-synthesizing enzymes leads to porphyria. The number of molecular defects associated with porphyria has recently increased which necessitated improvement of diagnostic and therapeutic methods. Factors promoting hemoglobin synthesis in patients with hemoglobinopathies may be used to alleviate symptoms of the disease. Measurement of hemoglobin in premature newborns helps to estimate their oxygen status and minimize the risk of toxic oxygen action. Porphyrias and hemoglobinopathies must be end-points of differential diagnosis. Modern techniques allow for earlier diagnosis of disturbed hemoglobin synthesis and improvement of relevant therapeutic strategies.
authors.forename: D K
authors.initials: DK
authors.lastname: Volosnikov
authors.forename: E N
authors.initials: EN
authors.lastname: Serebriakova
mesh_terms: D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006454:Hemoglobins / Q000096:biosynthesis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009154:Mutation; D011164:Porphyrias / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D012737:Sex Factors
chemical_list: D006454:Hemoglobins