Abstract:
BACKGROUND:alpha thalassemias are very common in all thalassemic areas; however, complete knowledge of the phenotypic, genotypic and epidemiological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologic picture, the lack of a specific characteristic comparable to the Hb A2 increase for beta thalassemias, and the almost complete homology between the two alpha genes. METHODS AND RESULTS:A new set of PCR techniques, each based on primer(s) specific for a particular type of alpha globin gene disorder, has been devised in our laboratory. The procedures are simple, and non-radioactive. They lead to the identification of all alpha globin disorders common in the Mediterranean area [-alpha 3.7, -alpha 4.2, alpha Hphl, alpha Ncol, --MED, -(alpha)20.5, alpha alpha alpha anti3.7]. The electrophoretic patterns specific for the main alpha globin alterations as observed with this set of techniques, are presented. CONCLUSIONS:Owing to their advantageous properties, these techniques are suitable for precise molecular characterization of the numerous subjects selected through mass population screenings.
journal_name
Haematologicajournal_title
Haematologicaauthors
Foglietta E,Deidda G,Graziani B,Modiano G,Bianco Isubject
Has Abstractpub_date
1996-09-01 00:00:00pages
387-96issue
5eissn
0390-6078issn
1592-8721journal_volume
81pub_type
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