The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis. At present, the prenatal diagnosis of thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (–CTTT) mutation in the globin gene from maternal plasma by real-time PCR. The specificity and sen...

Megaloblastic erythropoiesis is known to occur in patients with chronic hemolytic anaemia. It has been described in association with sickle cell anemia (Oliner and Heller 1959 ), thalassaemia (Robinson and Watson 1963 ), congenital spherocytosis ( Delamore et al. 1961), and acquired hemolytic anemia ( Forshaw and Harwood 1963). In a survey of the literature up to 1962, Robinson and Watson (1963...

AIMS To determine the clinical management of cardiovascular complications, and the extent of cardiac left ventricular (LV) involvement, in a large cohort of homogenously treated patients with thalassaemia major. METHODS AND RESULTS Participants were ≥ 16 years of age and diagnosed with thalassaemia major requiring regular blood transfusions since the age of 2. Patient characteristics, clinica...

OBJECTIVES Alpha thalassaemia is wide spread in Malaysia and is a public health problem. This study aimed to describe the carrier frequencies of α‒thalassaemia and its distribution among major ethnic groups in three states of Malaysia. METHODS Educational forums were organised and study was explained to students from three schools. Students were invited to take part in the screening with pare...

background: thalassemia syndromes are the most common genetic disorders in the world. they happen due to genetic defects in process of haemoglobin synthesis, and would be classified to many groups mainly α and β, based on the kind of defect. anemia is the main clinical manifestation of this phenotype of disorder. in order to correct the chronic anemia in thalassaemic individuals, they may need ...

Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of t...

Vierucci, A., London, W. T., Blumberg, B. S., Sutnick, A. I., and Ragazzini (1972). Archives of Disease in Childhood, 47, 760. Australia antigen and antibody in transfused children with thalassaemia. As a consequence of frequent transfusions, 10% of 169 Italian patients with thalassaemia developed Au(1) and 20% anti-Au(I). Au(l) persisted in the children in whom it was detected for the duration...

Beta thalassaemia is an autosomal recessive inherited blood disorder which results in abnormal formation of Haemoglobin molecule and ineffective erythropoiesis. Patients need to be dependent on habitual blood transfusion and on unaffordable exorbitant therapies for continued existence. It has been hypothesized that if the level of foetal Haemoglobin increases, it compensates the need of adult H...

The present study was undertaken to evaluate glutathione and its related enzymes in beta-thalassaemia major and to elucidate the effect of splenectomy on glutathione metabolism. The study includes three groups, those are: healthy individuals (n= 35) taken as control, a group of beta-thalassaemia major children with intact spleen (n= 29) and a group of splenectomized beta-thalassaemia major chil...

Abstract Background Beta thalassemia is a preventable disease. Iran has about 20,000Patients who are homozygote for β-thalassaemia and 3,750,000 carriers. The aim of this study was to determine the prevalence of beta thalassemia minor among men who underwent premarital screening in Quchana city in Khorasan Razavi region of Iran Materials and Methods This research is a descriptive cross-sect...