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...

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,...

INTRODUCTION We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore. CLINICAL PICTURE A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD. TREATMENT Two cycles of PGD were performed on the couple. Beta-thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were select...

Structural defects of the erythrocyte wall, enzyme defects and haemoglobinopathies may cause intrinsic haemolysis. We assessed the clinical and laboratory patterns of 44 patients with hereditary haemolytic anemias. Hereditary sphaerocytosis (HS) and thalassaemia minor and intermedia were equally represented with a mild male predominance in each group. Patients suffering from HS showed more seve...

We describe the management and clinical outcome of pregnancies among 100 Greek Cypriot women with thalassaemia: 88 with thalassaemia major and 12 with thalassaemia intermedia. A total of 152 successful pregnancies and 161 deliveries were included. All patients had endocrine assessment and frequent ferritin measurements. Multiple successful pregnancies included 7 twins and 1 triple pregnancy. Pr...

Thalassaemia is one of the most common genetic diseases worldwide, with at least 60,000 severely affected individuals born every year. Individuals originating from tropical and subtropical regions are most at risk. Disorders of haemoglobin synthesis (thalassaemia) and structure (eg, sickle-cell disease) were among the first molecular diseases to be identified, and have been investigated and cha...

Thalassaemia is one of the most common inherited genetic disorders prevalent worldwide. In India, certain communities were identified with high risk of beta thalassaemia. There are more than 200 different types of beta thalassaemia mutations worldwide. The most common beta thalassaemia mutation, IVS 1-5 (G→C) is being analyzed here to get information whether this common mutation is prevailing a...