Newborn screening is being promoted very rampantly, however, there is no fixed protocol followed amongst various diagnostics for screening to inborn errors of metabolism. Invariably, Hemoglobinopathies have also been included in these programs. My question is can beta thalassemia be diagnosed within 5 days of life (the period when NBS is recommended).
Normal levels of fetal haemoglobin will be present till 6 months of life, which technique is recommended if we need to include this parameter? So according to all inputs received on this post, the thalassemia profile/or hemoglobinopathies profile included in the newborn screening program is not really helpful during those 1-5 days of recommended screening? and if it needs to be included then it should contain genetic testing or PCR, rather than conventional HPCL (all broad/capillary etc are based on HPLC), or other platforms like…
