The haemoglobinopathies are the commonest single-gene disorders known, almost
certainly because of the protection they provide against malaria, as attested by a number of …

Thalassemia intermedia is a clinical definition applied to patients whose clinical phenotype
is milder than that of thalassemia major. Criteria used to define thalassemia intermedia …

In the new edition of this successful and authoritative book, the thalassaemias are reviewed
in detail with respect to their clinical features, cellular pathology, molecular genetics …

Advances in nanosciences are having a significant impact in many areas of research. The
impact of new nanotechnologies has been particularly large in biodiagnostics, where a …

A countrywide prospective study aimed at establishing the prevalence of the
haemoglobinopathy genes in the Portuguese population was carried out by screening …

CCAAT boxes are motifs found within the proximal promoter of many genes, including the
human globin genes. The highly conserved nature of CCAAT box motifs within the promoter …

Background: Thalassemia presents a higher incidence in southern China. The objective of
this study is to analyze the genotype distribution of thalassemia in Yangjiang, a western city …

To ensure that the list is as complete as possible, please let us know if you have discovered
a new mutation for inclusion in the list which will be updated every year. Please provide us …

The β‐globin gene mutations and the α‐globin genes of 620 patients with the phenotype of
severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty …

β Thalassaemia is a major public health problem in India. A comprehensive database of the
spectrum of mutations causing β thalassaemia in the Indian population is necessary. This …