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...

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...

Abnormal platelet aggregation was found in eight (44%) of 18 patients with beta-thalassaemia major and transfusional iron overload. The aggregation defect bore no correlation with the degree of hepatic fibrosis, liver function tests, whether or not splenectomy had been performed, the degree of iron overload, haematocrit, platelet count, serum vitamin E level, or leucocyte ascorbate concentratio...

AIMS To study the prevalence and severity of liver diseases of transfusion dependent thalassaemia major patients, and correlate the histological and biochemical changes of iron overload in liver with the peripheral blood markers. METHOD Liver biopsy was performed to assess the histological changes and liver iron content (LIC). RESULTS One hundred patients were evaluated (median age 11.7 yea...

In this study various abnormal haemoglobin fractions on HPLC were observed in 158 cases out of the total 300 screened paediatric anaemic cases. Of the 300 paediatric cases, samples analyzed on CE-HPLC for haemoglobinopathies, maximum 67 (22.33%) cases were diagnosed as S-β double heterozygous, 39(13%) as sickle cell trait, 27 (9 %) as β-thalassaemia major, 10 (3.33 %) as sickle cell disease, 05...

Dear Editor, Thalassaemia is one of the most common genetic disorders in Southeast Asian countries. It is a major health problem in Malaysia with a recent reported carrier rate of about 6.8%.1 Patients with β-thalassaemia major (TM) require lifelong transfusion while patients with thalassaemia intermedia (TI) generally do not need regular blood transfusions but may still require medical attenti...