AIMS To evaluate prospectively the left ventricular performance in thalassaemia major and sickle cell disease using comprehensive echocardiographic imaging including acoustic quantification during early childhood. METHODS AND RESULTS Twenty-three patients with thalassaemia and 26 patients with sickle cell disease underwent echocardiographic examination including M-mode, 2-D, Doppler and acous...

BACKGROUND The alpha-thalassaemias are the commonest genetic disorders of humans. It is generally believed that this high frequency reflects selection through a survival advantage against death from malaria; nevertheless, the epidemiological description of the relationships between alpha-thalassaemia, malaria, and other common causes of child mortality remains incomplete. METHODS AND FINDINGS...

Haemoglobinopathies are the most common monogenic inherited disorders of erythrocytes. Carriers of haemoglobinopathies are partially protected against morbidity and mortality of falciparum malaria, resulting in their higher prevalence in tropical countries. Estimates in India show 3–17% prevalence of β-thalassaemia, but its magnitude in the Central-East coast of India, especially in Orissa is n...

This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes using the amplification refractory mutation system (ARMS) and restriction fragment...

Homozygous alpha+ thalassaemia (alpha-/alpha-) ameliorates some of the clinical manifestations of homozygous sickle cell (SS) disease but its effect on retinal complications remains unknown. This has been assessed by visual examination and fluorescein angiography in 39 subjects with SS disease and homozygous alpha+ thalassaemia and in 39 age/sex matched controls with SS disease but with a norma...

Marked improvement in the management of thalassaemia has not been matched by progress in psychosocial rehabilitation as thalassaemia continues to pose challenges to patients and their family members. Few studies have been carried out in Malaysia to look at such issues. This study is therefore to explore the concerns, beliefs and feelings about thalassaemia. It was conducted in the year 2009 ove...

Screening of blood reduces but does not eliminate the risk of hepatitis B virus (HBV) infection in multi-transfused thalassaemia patients. This study was done to evaluate efficacy of HBV vaccination on hepatitis B virus surface antigen (HBsAg) carrier rate in children with thalassaemia major receiving multiple blood transfusions. In a cohort study conducted at a hospital in Bahawalpur, Pakistan...

We studied gall bladder contractility in 61 children with beta-thalassaemia who were asymptomatic for gall bladder disease and 51 sex- and age-matched controls in Cairo, Egypt, using, andreal-time ultrasonography. Multiple gall bladder stones were present in 18.0% of thalassaemia patients and sludge in 6.6%. There were statistically significant differences between thalassaemia patients controls...

E ver since Haldane proposed in 1949 that thalassaemia might protect individuals against the scourge of malaria [1], the challenge has been to provide supporting evidence—be it at the cellular, clinical, or epidemiological level. The general topic of human red cell polymorphisms and malarial protection has attracted enormous interest, largely because this subject provides the most compelling ex...

In this study we used restriction endonuclease mapping to characterise the molecular defect responsible for haemoglobin H disease in 14 Sardinian children. The resulting genotypes were then correlated with the respective clinical and haematological phenotypes. We found that patients with the combination of non-deletion alpha(+)-thalassaemia [(alpha alpha)th] and deletion alpha(0)-thalassaemia (...