Thalassemia: Recent insights into molecular mechanisms

Abstract

Recent advances in defining the molecular basis for the thalassemia syndromes are discussed. We now realize that the causes of the thalassemia phenotype are diverse and include gene deletions, nuclear RNA processing defects, nonsense mutations, fusion genes, termination codon mutants, and unstable globin chains.

Reprimo 824 G>C and p53R2 4696 C>G single nucleotide polymorphisms and colorectal cancer: a case–control disease association study

“…SNPs in coding regions (cSNPs) and regulatory regions are most likely to affect gene function as these have the greatest potential to lead to altered protein structure (and hence function) or to variations in gene expression (Wang and Moult, 2001). Examples of diseases caused by intronic mutations include some forms of congenital adrenal hyperplasia (Higashi et al, 1988, Steinberg andAdams, 1982), most o f the beta thalassaemias (Steinberg and Adams, 1982) and an autosomal dominant form of isolated growth hormone deficiency (McCarthy and Phillips, 1998).…”

Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR

“…The whole length of gene cluster spans around 60 kb. More than 250 mutations in β‐globin gene have been reported to cause β‐thalassemia, and most of them are point mutations . Until now, more than 20 β‐globin gene mutated or deleted forms have been found in Taiwanese population .…”