We review and report here the genotypes and phenotypes of 60 novel thalassemia and
abnormal hemoglobin (Hb) mutations discovered following the adoption of routine DNA …

The genetic relationships of human populations have been studied by comparing gene
frequency data for protein and blood-group loci of different populations 1,2 . DNA analysis now …

Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide,
and the treatment of affected individuals presents a substantial global disease burden. …

We investigated whether mutations in the KLF1 gene are associated with increased Hb F
levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy …

β-globin gene haplotypes were determined for 196 normal (β-A) and 419 thalassaemia (β-Th)
chromosomes of individuals from four different regions of the Indian subcontinent; North-…

We have used restriction endonuclease mapping of cell DNA to investigate the structure of
the beta-globin gene in beta-thalassemias. Among 17 individuals with beta +- and beta 0-…

The spectrum of the β-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius
and Syria has been further characterized by a multi-center study of 1,235 transfusion-…

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‐…

We studied 325 thalassemia intermedia patients from Iran, India, Pakistan, Thailand, Mauritius
and Cyprus to examine factors which influence the phenotype. The β-thalassemia (thal) …

The hemoglobinopathies are a diverse group of inherited recessive disorders consisting of
the structural hemoglobin variants and the thalassemias. They can occur at very high carrier …