Transfusion dependent thalassaemia is a significant problem in Sri Lanka. In a study published in 2000, it was estimated that there were approximately 2000 transfusion dependent beta thalassaemia and HbE patients in Sri Lanka and the expenditure on them accounted for approximately 5% of the recurrent health budget of the country [1]. This number has by and large remained static over the past de...

A number of patients of Mediterranean and Asian origins were found to have unexplained microcytic hypochromic red blood cells. Iron deficiency and fl-thalassaemia trait were both satisfactorily excluded in all of them. The haematological indices of these patients, obtained on a Coulter Model 'S' Counter, were found to be very similar to those seen in obligatory heterozygotes for oc-thalassaemia...

AIMS To investigate whether it is worthwhile, in areas where thalassaemia is common, to screen for globin gene mutations in subjects with a mean corpuscular volume (MCV) above 80 fL, especially in partners of known thalassaemia carriers. METHODS Blood samples from 95 subjects with MCV between 80 and 85 fL were screened for the presence of alpha globin gene mutations and the haemoglobin (Hb) E...

This study was done to evaluate the efficiency of M/H ratio between the percentages of microcytic and hypochromic cells as a screening procedure for thalassaemia trait in Pakistani population. A total of 150 subjects, were included in this study. The analysis of results revealed that M/H ratio is a very sensitive index for beta thalassaemia trait. The sensitivity, predictive value and diagnosti...

OBJECTIVE To screen immediate family members of thalassaemia patients for carrier identification and counselling. METHODS The cross-sectional study was conducted at an urban thalassaemia treatment and prevention centre in Karachi, Pakistan, from January to December 2008, and involved 188 siblings of 100 thalassaemia patients. Complete blood count, including haemogram, was performed in the sib...

The haematological variables, haematinic state, and placental function of more than 2000 pregnant women, heterozygous for either alpha- or beta-thalassaemia genes, were examined during pregnancy. Four features emerged. Firstly, it was possible by discriminant function analysis of haematological variables to distinguish in pregnant patients between the anaemia caused by thalassaemia trait and th...

A population survey in northern Liberia showed an average incidence of 9 percent of beta-thalassaemia trait. There was considerable tribal variation, the highest rates being mainly found in tribes having a low incidence of Hb S. A single example of deltabeta-thalassaemia trait was also found; the incidence of delta-chain variants was 1.8 percent. The effect of malaria on Hb A2 levels was invest...

Thalassaemia intermedia includes thalassaemias with clinical severity intermediate between asymptomatic thalassaemia minor and transfusion dependent thalassaemia major. By definition patients of thalassaemia intermedia maintain a haemoglobin level of 7-10 g/dl and do not, or only occasionally, require blood transfusion. An eight-year-old girl who was a known case of thalassaemia intermedia and ...

Haemoglobin E beta-thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for its clinical diversity, or its optimal management. Despite its frequency, haemoglobin E beta-thalassaemia is often managed in an ill-defined and haphazard way, usually by demand transfusion. We studied a cohort of Sri Lankan patient...

The authors report a case of extramedullary haematopoiesis (EMH) presenting as an intrathoracic tumour in a patient with alpha-thalassaemia. CT scan and MRI of the chest were obtained and followed by tumour excision. Compared to beta-thalassaemia, only two cases of EMH in patients with alpha-thalassaemia have been described in the literature. A possible reason for this disparity is discussed.