title: Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis.
abstract: In this report we describe a PCR-based method for the diagnosis of the most common form of alpha thalassaemia, the -alpha 3.7 deletion which occurs throughout all tropical and subtropical regions of the world. The same procedure also identifies the reciprocal recombinant chromosome (alpha alpha alpha anti 3.7). Restriction mapping of the PCR products has enabled us to distinguish between the type I (-alpha 3.7 I), type II (-alpha 3.7 II) and type III (-alpha 3.7 III) deletions. This strategy will be very useful in screening programmes of alpha thalassaemia occurring on its own or in association with beta thalassaemia and sickle cell disease.
authors.affiliation: ICGM INSERM U 129, CHU Cochin, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Dodé
authors.forename: R
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: J
authors.initials: J
authors.lastname: Lamb
authors.forename: J
authors.initials: J
authors.lastname: Rochette
mesh_terms: D005914:Globins / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D015183:Restriction Mapping; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005914:Globins