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Title Διαγνωστική προσέγγιση και γονιδιακή ανάλυση της α+-θαλασσαιμίας στον πληθυσμό της Κρήτης
Alternative Title Diagnostic approach and gene analysis of the α+-thalassaemia in the Cretan population
Author Ρεπαπίνου, Ζωή
Thesis advisor Ηλιόπουλος, Γεώργιος
Reviewer Μαυρουδής, Δημήτριος
Παπαδάκη, Ελένη
Σαμώνης, Γεώργιος
Σπαντίδος, Δημήτριος
Μαριωρής, Α.
Ηλιόπουλος, Α
Τσατσάνης, Χρήστος
Abstract Fifty eight non iron-deficient individuals with mild erythrocytic morphological abnormalities, normal or slightly decreased MCV and MCH values, normal chromatographic findings and HbH inclusions by methyl violet staining in the post, but not in the pre-incubation preparation, were screened with DNA analysis for the six most common -globin gene molecular defects in the Greek population, i.e. the -3.7 deletion, Poly(A)TSaudi, IVS1 5΄ pentanucleotide deletion, Poly(A)AATAAA>AATGAA, Hb Agrinio και Hb Icaria. Fifty of 58 individuals (86.2%) were found carriers of a α-globin gene molecular defect. The detected defects were: the -α3.7 deletion (58%), the IVS1 5΄ pentanucleotide deletion (34%), the Hb Icaria mutation (4%) and the Poly(A) TSaudi signal mutation (2%). In addition there was one -α3.7 deletion in homozygous state with α+-phenotype. In conclusion, the described method can be used as a helpful screening tool for the diagnostic approach of α+-thalassemia carriers in routine laboratories, in order to select those who need further investigation based on the personal and family history, the hematological phenotype and mainly the necessity for genetic counseling or prenatal diagnosis. Moreover, if used for estimation of the incidence of α-thalassemia carriers, it may prove more sensitive in the detection of these carriers than previously reported.
Language Greek
Subject Hemic and Lymphatic Systems
Αίμα και λεμφικό σύστημα
Issue date 2007-03-08
Collection   Faculty/Department--School of Medicine--Department of Medicine--Doctoral theses
  Type of Work--Doctoral theses
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