Molecular analysis of β-thalassaemia patients in a high incidence area of southern Italy

Clinical and Laboratory Haematology

Volumn 23, Issue 6, 2001, Pages 373-378

  Rigoli, L ^a   Meo, A ^a   Miceli, M R ^a   Alessio, K ^a   Caruso, R A ^a   La Rosa, M A ^a   Salpietro, D C ^a   Ricca, M ^a   Barberi, I ^a  

^a UNIVERSITY OF MESSINA   (Italy)

Author keywords

thalassaemia; ASO; Mutations; PCR

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BETA THALASSEMIA; CHILD; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA DETERMINATION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INCIDENCE; ITALY; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; GENE FREQUENCY; GENETICS; HOMOZYGOTE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BETA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOTYPE; HOMOZYGOTE; HUMAN; INCIDENCE; ITALY; MIDDLE AGE; MUTATION; PHENOTYPE; HUMANS; MIDDLE AGED;

EID: 0035544362     PISSN: 01419854     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2257.2001.00367.x     Document Type: Article

References (30)

1. Estimation of small percentage of foetal haemoglobin
2. The thalassaemias: Molecular pathogenesis
3. Rapid prenatal diagnosis of β-thalassaemia using DNA amplification and non radioactive probe
4. Thalassaemia intermedia
5. Genetic interactions in thalassaemia intermedia. Analysis of β-mutations, α-genotype, γ-promoters and β-LCR hypersensitive site 2 and 4 in Italian patients
6. Genotype-phenotype in β-thalassaemias
7. The molecular basis of β-thalassaemia in Lebanon: Application to prenatal diagnosis
8. The spectrum of β-thalassaemia mutations in Sicily
9. Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β-thalassaemia due to a homozygosity for the IVS-I-6 (T→C) mutation
10. Molecular defects in β-thalassaemias in the population of Saudi Arabia
11. 2 (120 [GH3]Lys→Asn) -A new variant found in association with α-thalassaemia and iron deficiency
12. Molecular analysis of β°-thalassaemia intermedia in Sardinia
13. Molecular genetics of human disease: Hemoglobinopathies
14. Molecular characterization of β-thalassaemia in 174 Greek patients with β-thalassaemia major
15. Rapid electrophoresis and quantitation of haemoglobin on cellulose acetate
16. Promoter mutations producing mild β-thalassaemia in the Italian population
17. Molecular characterization of β-thalassaemia intermedia in patients of Italian decent and identification of three novel β-thalassaemia mutations
18. A β-thalassaemia genotype not linked to the β-globin cluster in
19. Rapid detection and prenatal diagnosis of β-thalassaemia. Studies in Indian and Cypriot populations in the UK
20. The mutation and polymorphism of the human β-globin gene and its surrounding DNA
21. Genetic epidemiology of β-thalassaemia in Sicily: Do sequences 5′ to the Gγ gene and 5′ to the β-gene interact to enhance HbF expression in β-thalassaemia?
22. Thalassaemia intermedia resulting from a mild β-thalassaemia mutation
23. Molecular screening and fetal diagnosis of β-thalassaemia in the Italian population
24. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
25. Analysis and cloning of eukaryotic genomic DNA
26. β+ thalassaemia Portuguese type: Clinical, haematological and molecular studies of a newly defined form of β-thalassaemia
27. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
28. Severity of β-thalassaemia due to genotypes involving the IVS-I-6 (T→C) mutation
29. On the origin and spread of β-thalassaemia: Recurrent observation of four mutation in different ethnic groups