Abnormal haemoglobins: detection & characterization. 2011

Henri Wajcman, and Kamran Moradkhani
INSERM, Université Paris-Est, Faculté de Médecine, Créteil, France. Henri.Wajcman@inserm.fr

Haemoglobin (Hb) abnormalities though quite frequent, are generally detected in populations during surveys and programmes run for prevention of Hb disorders. Several methods are now available for detection of Hb abnormalities. In this review, the following are discussed: (i) the methods used for characterization of haemoglobin disorders; (ii) the problems linked to diagnosis of thalassaemic trait; (iii) the strategy for detection of common Hb variants; and (iv) the difficulties in identification of rare variants. The differences between developing and industrialized countries for the strategies employed in the diagnosis of abnormal haemoglobins are considered. We mention the limits and pitfalls for each approach and the necessity to characterize the abnormalities using at least two different methods. The recommended strategy is to use a combination of cation-exchange high performance chromatography (CE-HPLC), capillary electrophoresis (CE) and when possible isoelectric focusing (IEF). Difficult cases may demand further investigations requiring specialized protein and/or molecular biology techniques.

UI MeSH Term Description Entries
D007525 Isoelectric Focusing Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. Electrofocusing,Focusing, Isoelectric
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002851 Chromatography, High Pressure Liquid Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed. Chromatography, High Performance Liquid,Chromatography, High Speed Liquid,Chromatography, Liquid, High Pressure,HPLC,High Performance Liquid Chromatography,High-Performance Liquid Chromatography,UPLC,Ultra Performance Liquid Chromatography,Chromatography, High-Performance Liquid,High-Performance Liquid Chromatographies,Liquid Chromatography, High-Performance
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D006453 Hemoglobinopathies A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. Hemoglobinopathy
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D017086 beta-Thalassemia A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. Anemia, Cooley's,Anemia, Erythroblastic,Anemia, Mediterranean,Hemoglobin F Disease,Thalassemia Major,Thalassemia Minor,Erythroblastic Anemia,Mediterranean Anemia,Microcytemia, beta Type,Thalassemia Intermedia,Thalassemia Major (beta-Thalassemia Major),Thalassemia Minor (beta-Thalassemia Minor),Thalassemia, beta Type,beta Thalassemia,Anemia, Cooley,Anemia, Cooleys,Anemias, Erythroblastic,Anemias, Mediterranean,Cooley's Anemia,Disease, Hemoglobin F,Intermedia, Thalassemia,Intermedias, Thalassemia,Major, Thalassemia (beta-Thalassemia Major),Majors, Thalassemia (beta-Thalassemia Major),Mediterranean Anemias,Microcytemias, beta Type,Minor, Thalassemia (beta-Thalassemia Minor),Minors, Thalassemia (beta-Thalassemia Minor),Thalassemia Intermedias,Thalassemia Major (beta Thalassemia Major),Thalassemia Majors (beta-Thalassemia Major),Thalassemia Minor (beta Thalassemia Minor),Thalassemia Minors (beta-Thalassemia Minor),Thalassemia, beta,Thalassemias, beta,Thalassemias, beta Type,Type Microcytemia, beta,Type Microcytemias, beta,Type Thalassemia, beta,Type Thalassemias, beta,beta Thalassemias,beta Type Microcytemia,beta Type Microcytemias,beta Type Thalassemia,beta Type Thalassemias
D019075 Electrophoresis, Capillary A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of PROTEINS; NUCLEIC ACIDS; and CARBOHYDRATES. (Segen, Dictionary of Modern Medicine, 1992) Capillary Zone Electrophoresis,Capillary Electrophoreses,Capillary Electrophoresis,Capillary Zone Electrophoreses,Electrophoreses, Capillary,Electrophoreses, Capillary Zone,Electrophoresis, Capillary Zone,Zone Electrophoreses, Capillary,Zone Electrophoresis, Capillary

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