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We have used four oligonucleotide probes and two restriction enzymes to detect the beta thalassaemia mutation in a group of 61 couples of Italian descent who were prospective parents. We have been able to define the beta thalassaemia mutation in both parents in 47 couples and in only one parent in 12 couples. Prenatal diagnosis was accomplished successfully either by amniocyte (two) or trophobl...

OBJECTIVE To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. METHODS A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was f...

beta-thalassaemia major and sickle-cell disease are important health problems in Iraq. To provide information for a prevention programme, the frequency of haemoglobin disorders was mapped in Dohuk governorate. A total of 591 couples (1182 individuals) attending health centres for premarital health screening were tested; 44 (3.7%) were found to be carriers of ,-thalassaemia, 14 (1.2%) of the sic...

BACKGROUND In the UK about 4.5% of the population carry cystic fibrosis, whilst in the inner city areas an even higher proportion carry one of the haemoglobin disorders such as thalassaemia. Couples who both carry the same recessive disorder have a 1 in 4 risk of an affected child in every pregnancy. OBJECTIVES To assess GPs' confidence in their ability to provide initial prenatal advice for ...

OBJECTIVES Single nucleotide polymorphism (SNP) with a mutation can be used to identify the presence of the paternally-inherited wild-type or mutant allele as result of the inheritance of either allele in the fetus and allows the prediction of the fetal genotype. This study aims to identify paternal SNPs located at the flanking regions upstream or downstream from the β-globin gene mutations at ...

In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1,...

Increasing global migration has resulted in wider dispersal of people at risk of hereditary anaemias. As a result, haemoglobinopathies are becoming increasingly prevalent in countries where these diseases are not endemic. The treatment of thalassaemia major and intermedia has traditionally depended on preventing undesirable outcomes of disease, using transfusion therapy along with iron chelatio...

A non-directive programme of prenatal counselling was used during a four year period. Forty-three couples at risk for having a baby with a haemoglobinopathy were identified. Prenatal diagnosis was offered in 19 pregnancies to 14 couples at risk of having a baby with sickle cell anaemia and in two pregnancies in two couples at risk of a baby with beta thalassaemia major, who presented before the...

The high incidence of double-gene deletions in α-thalassaemia increases the risk of having pregnancies with homozygous α(0)-thalassaemia, the cause of the lethal haemoglobin (Hb) Bart's hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, the current gap-PCR based PGD protocol for deletional α-thalassaemia requires spe...