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...

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...

Treatment of chronic hepatitis C virus (HCV) infection in transfusion-dependent beta-thalassaemia major patients is complicated by existing hepatic siderosis and the fear of ribavirin-associated haemolysis. We evaluated the efficacy and side-effects of combination interferon-alpha (INF) and ribavirin therapy for HCV-infected thalassaemia patients. A total of 17 patients were enrolled (10 nonres...