Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...

Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...

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...

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...

BACKGROUND Despite the introduction of the parenteral iron chelator desferrioxamine more than 30 years ago, 50% of patients with thalassaemia major die before the age of 35 years, predominantly from iron-induced heart failure. The only alternative treatment is oral deferiprone, but its long-term efficacy on myocardial iron concentrations is unknown. METHODS We compared myocardial iron content...

Both α- and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respec...

This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and β-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged < 18 years (51 males, 83 females). Low serum ferritin (< 12 ng/dL) was present in 17.9% of children (21.7% in females and ...

In the south-east of Sicily 23 children from 14 unrelated families have been diagnosed as suffering from haemoglobin Lepore. Such a high incidence shows that Sicily is an important focus of haemoglobin Lepore. The results of haematological and biosynthetic studies in 18 carriers of Hb Lepore and in five double heterozygotes for Hb Lepore and beta-thalassaemia are presented. In the carriers the ...

Thalassaemia is a common disorder in Malaysia. It is estimated that 4.5% of the population are carriers for beta- or alpha- thalassaemias. We set out to screen Form 4 students aged between 15 and 16 years old in a national school, for thalassaemia in March 2008. Written consent was obtained from 310 students. The carrier rate for the common thalassaemia syndromes was 6.8% (2.9% for beta-thalass...

Heart disease is the leading cause of mortality and one of the main causes of morbidity in beta-thalassemia. Patients with homozygous thalassemia may have either a severe phenotype which is usually transfusion dependent or a milder form that is thalassemia intermedia. The two main factors that determine cardiac disease in homozygous β thalassemia are the high output state that results from chro...