1,720,980 research outputs found
DEVELOPMENTAL PATTERN OF B-CHAIN PRODUCTION AT MIDTRIMESTER PREGNANCY IN SARDINIAN B-THALASSEMIA HETEROZYGOTES
No full textPrenatal diagnosis of thalassemia major by fetal blood analysis: experience with 1000 cases
No full textAmplificazione primer-specifica (ARMS): un metodo di identificazione di mutazioni puntiformi note applicato alla diagnosi prenatale di β-talassemia
No full textHematological phenotype of the double heterozygous state for alpha and beta thalassemia
No full textIn this study, we have correlated the hematological phenotype of 56 Sardinian βdeg; -thalassemia heterozygotes with their αglobin genotype as defined by restriction endonuclease mapping. We found that the coinheritance of the deletion of one αglobin and, more obviously, two αglobin genes tend to normalize the thalassemia-like hematological phenotype commonly associated with the βdeg;thalassemia carrier state. On the other hand, the association of the deletion of three αglobin genes caused a more severe phenotype. By globin chain synthesis analysis, those βdeg;thalassemia heterozygotes with the (-αalpha;alpha; αglobin genotype had less deficiency of βchain synthesis than did those with the normal αglobin genotype (αalpha;alpha;alpha; In heterozygotes with the (-αalpha; and in those with the (-/-α αglobin genotype the imbalance was actually reversed with a mild or marked αchain synthesis excess respectively
Diagnosi prenatale di beta talassemia mediante analisi del dna fetale ottenuto da sangue periferico materno
No full textHETEROZYGOUS B-THALASSEMIA: RELATIONSHIP BETWEEN THE HEMATOLOGICAL PHENOTYPE AND THE TYPE OF B-THALASSEMIA MUTATION. (REVIEW)
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Prenatal diagnosis of beta-thalassemia with the synthetic-oligomer technique
No full text103 couples attending the antenatal clinic in Sardinia were screened for the beta o-39 (nonsense) mutation, which codes for beta-thalassaemia, with the oligonucleotide method. In 94 couples both members had the beta o-39 mutant and thus were eligible for antenatal testing with this method. These pregnancies were monitored with amniocentesis (61) or trophoblast biopsy (33). Prenatal diagnosis in those monitored with amniocentesis was carried out with DNA analysis of uncultivated amniocytes (19) or cultivated cells (38). In 4 pregnancies results were unsatisfactory, and prenatal diagnosis was repeated with fetal-blood analysis. Trophoblast biopsy was unsuccessful in 1 pregnancy and gave a misdiagnosis in another because of maternal contamination. In the latter case the genotype of the fetus was established with amniocyte DNA analysis and globin-chain-synthesis studies
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