The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis. At present, the prenatal diagnosis of thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (–CTTT) mutation in the globin gene from maternal plasma by real-time PCR. The specificity and sen...

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...