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...

Sodium, potassium, water, and the mean corpuscular haemoglobin concentration were determined in the packed erythrocytes of children with severe thalassaemia. The concentration of sodium in the packed red cells was higher than normal in a significant proportion of children with thalassaemia whereas potassium in the packed cells and sodium and potassium in the plasma were normal. On average, the ...

Kirthana Balachandran describes how thalassaemia has affected her, and healthcare professionals could better support her during the transition to adult care

The prevalence of eight mutations in 84 patients with beta-thalassaemia major and in 16 subjects with thalassaemia intermedia was investigated. All of the patients were Italian, originating from Eastern Sicily (Messina area) and some Calabrian regions. Genomic DNA was amplified by polymerase chain reaction (PCR). DNA molecular investigations were performed by allele-specific oligonucleotide (AS...

The study of surgical liver biopsy specimens obtained during splenectomy in 86 children with thalassaemia indicated that such patients may develop liver disease that evolves into cirrhosis. Histological characteristics suggest that it is post-necrotic cirrhosis. Onset of cirrhosis in some patients may occur as early as 7-8 years old, and at age about 15-16 years most children with thalassaemia ...

The iron state was examined in two groups of pregnant women who were carriers of alpha and beta thalassaemia genes. In both groups the haematological expression of the disease--namely, haemoglobin and mean cell haemoglobin concentrations--was nearly identical. In patients with alpha thalassaemia the ferritin concentrations and percentage of ferritin deficiency was the same as in normal pregnant...

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...