Thalassaemia

α-thalassaemia

Thalassaemia is one of the most common genetic diseases worldwide, with at least 60,000 severely affected individuals born every year. Individuals originating from tropical and subtropical regions are most at risk. Disorders of haemoglobin synthesis (thalassaemia) and structure (eg, sickle-cell disease) were among the first molecular diseases to be identified, and have been investigated and cha...

β-Thalassaemia intermedia masquerading as β-thalassaemia major.

To cite: Singh A, Varma S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207637 DESCRIPTION A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of...

Screening for beta thalassaemia

Thalassaemia in Scots.

Five cases of thalassaemia minor and 11 symptomless trait carriers have been detected in four Scottish families, only one of which is known to have foreign ancestry. It is suggested that the condition is commoner than was once thought, and that the diagnosis should be considered in any patient with refractory hypochromic anaemia in which the red cells show increased osmotic resistance.

Thalassaemia in Azerbaijan.

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form ...