Mina, Mina, James, Radhika, and Gandhi, Salil (2018) Haemoglobin Titusville: a case study and review of the literature. Journal of Paediatrics and Child Health, 54 (4). pp. 449-452.

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Abstract

[Extract] Haemoglobin is a tetramer comprised of two pairs of globin chains. Haemoglobinopathies occur when there is an abnormal-ity in these proteins.1There have been greater than 1000 differ-ent mutations of the globin chains identified in humans. Most mutations in haemoglobin do not have any known clinicalmanifestations.

There are two haemoglobin gene clusters, with complex con-trol, involved in the formation of haemoglobin. These clusterscan found at the end of the short arms of chromosomes 16 and 11. The order of gene expression within each of these clusterstends to approximately follow the expression seen during theembryonic, fetal and childhood periods. The final haemoglobinpattern (i.e. childhood) is usually observed at minimum, by theage of 6 months.1This consists of≥95% HbA,≤3.5 HbA2 and<2.5% HbF.

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