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REVIEW ARTICLE
Year : 2011  |  Volume : 134  |  Issue : 4  |  Page : 538-546

Abnormal haemoglobins: Detection & characterization


1 INSERM, Université Paris-Est, Faculté de Médecine, Créteil, France
2 AP-HP, Groupe Henri-Mondor Albert-Chenevier, Service de Biochimie-Génétique, Créteil, France

Correspondence Address:
Henri Wajcman
INSERM, Unité U955, Créteil
France
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PMID: 22089618

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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.


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