title: Abnormal haemoglobins: detection & characterization.
abstract: 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.
authors.affiliation: INSERM, Université Paris-Est, Faculté de Médecine, Créteil, France. Henri.Wajcman@inserm.fr
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods; D019075:Electrophoresis, Capillary / Q000379:methods; D004912:Erythrocytes / Q000737:chemistry; D014644:Genetic Variation; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods; D010641:Phenotype; D017086:beta-Thalassemia / Q000175:diagnosis*
chemical_list: D006455:Hemoglobins, Abnormal
references.citation: Clin Chem Lab Med. 2006;44(3):340-5
references.pmid: 16519609
references.citation: J Med Screen. 2001;8(1):8-14
references.pmid: 11373853
references.citation: Science. 1949 Nov 25;110(2865):543-8
references.pmid: 15395398
references.citation: Int J Hematol. 2010 Oct;92(3):445-50
references.pmid: 20838957
references.citation: Indian J Pathol Microbiol. 2002 Jul;45(3):265-7
references.pmid: 12785163
references.citation: Clin Chem. 2004 Oct;50(10):1736-47
references.pmid: 15388656
references.citation: Clin Chem Lab Med. 2005;43(2):237-43
references.pmid: 15843223
references.citation: Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771-3
references.pmid: 6584911
references.citation: Hemoglobin. 2009;33(2):124-31
references.pmid: 19373588
references.citation: Nature. 1971 Dec 10;234(5328):337-40
references.pmid: 4944483
references.citation: Ann N Y Acad Sci. 1998 Jun 30;850:251-69
references.pmid: 9668547
references.citation: Methods Mol Med. 2003;82:93-100
references.pmid: 12669639
references.citation: Clin Biochem. 2009 Dec;42(18):1780-5
references.pmid: 19733162
references.citation: Hemoglobin. 1990;14(5):529-48
references.pmid: 2079433
references.citation: Clin Biochem. 2009 Dec;42(18):1802-6
references.pmid: 19500561
references.citation: Clin Biochem. 2009 Nov;42(16-17):1667-76
references.pmid: 19631632
references.citation: Hemoglobin. 1982;6(2):199-208
references.pmid: 7096111
references.citation: Clin Biochem. 2009 Dec;42(18):1786-96
references.pmid: 19591816
references.citation: Blood. 1998 Dec 1;92(11):4375-82
references.pmid: 9834244
references.citation: Bull World Health Organ. 2001;79(8):704-12
references.pmid: 11545326
references.citation: J Med Screen. 2010;17(2):58-65
references.pmid: 20660432
references.citation: Int J Lab Hematol. 2009 Oct;31(5):484-95
references.pmid: 19486364
references.citation: Hemoglobin. 2010;34(5):500-4
references.pmid: 20854125
references.citation: Clin Chem. 1997 Jan;43(1):34-9
references.pmid: 8990219
references.citation: Curr Mol Med. 2008 Nov;8(7):600-8
references.pmid: 18991646
references.citation: Clin Biochem. 2010 Nov;43(16-17):1345-50
references.pmid: 20621075
references.citation: Blood Rev. 2003 Mar;17(1):43-53
references.pmid: 12490210
references.citation: Hemoglobin. 1998 Sep-Nov;22(5-6):459-67
references.pmid: 9859929
references.citation: Hematology Am Soc Hematol Educ Program. 2007;:79-83
references.pmid: 18024613
references.citation: Anthropol Anz. 2002 Jun;60(2):169-74
references.pmid: 12161962
references.citation: Proc Natl Acad Sci U S A. 1986 Dec;83(24):9363-7
references.pmid: 3467311
references.citation: Br J Haematol. 1970 Apr;18(4):435-46
references.pmid: 5420592
references.citation: Hemoglobin. 2008;32(4):327-49
references.pmid: 18654884
references.citation: Clin Lab. 2009;55(5-6):217-21
references.pmid: 19728555
references.citation: J Lab Clin Med. 1964 Oct;64:668-74
references.pmid: 14233155
references.citation: Methods Mol Med. 2003;82:101-16
references.pmid: 12669640
references.citation: Science. 1983 Jul 8;221(4606):175-8
references.pmid: 6190229
references.citation: Hemoglobin. 2007;31(3):289-311
references.pmid: 17654067
references.citation: Hemoglobin. 2010;34(5):407-23
references.pmid: 20854114
references.citation: Singapore Med J. 2008 Oct;49(10):823-6
references.pmid: 18946618
references.citation: Nucleic Acids Res. 2004 Jan 1;32(Database issue):D537-41
references.pmid: 14681476
references.citation: Hemoglobin. 2001 May;25(2):169-81
references.pmid: 11480779
references.citation: Hemoglobin. 1998 Sep-Nov;22(5-6):493-500
references.pmid: 9859932
references.citation: J Am Soc Mass Spectrom. 1996 Feb;7(2):163-7
references.pmid: 24203237