The prevalence of primary hereditary hemochromatosis in central Anatolia

Intragenic haplotype analysis of common HFE mutations in the Portuguese population

“…Additionally, several reports have raised discussions regarding a p.C282Y Irish Celtic origin with a further spread by the Viking migrations (Olsson et al 2010) or even a Viking origin (Merryweather-Clarke et al 2000). Mutation c.187C>G (p.H63D) is worldwide distributed, showing 10-20% variable allele frequency in nearly all European populations, and also appearing in North Africa, the Middle East and Asia, supporting for an older origin of this mutation (Rochette et al 1999;Ezzikouri et al 2008;Reish et al 2010;Dhillon et al 2012;Karaca et al 2013). The higher frequencies are in countries around the Mediterranean Sea (∼20%) (Sánchez et al 1998;Merryweather-Clarke et al 2000).…”

What is the future of research for hereditary hemochromatosis in Turkey?

“…Karaca et al (8) reported on an overall prevalence of 43 per 100,000 individuals after evaluating 2304 outpatients from the Central Anatolia region of Turkey. In this study, patients with a fasting transferrin saturation (TS) of more than 45% for women and 50% for men were subjected to further evaluation of serum ferritin levels and genetic analysis for the two mutations C282Y and H63D, commonly associated with HH.…”

“…It was also observed that patients with mutations had significantly elevated levels both of serum iron and transferrin saturation. Epidemiological studies from Turkey on HH have been summarized in Table 1 (8)(9)(10)(11)(12).…”

“…Type 3 HH, which was first identified in 2000, has been attributed to a mutation in the TFR2 gene. The product of this gene, the transferrin receptor 2 protein, which is expressed exclusi- (8)(9)(10)12,13 ) vely in the liver is believed to be a sensor of iron levels and is also involved in hepcidin synthesis. Inheritance of both TFR2 and HFE mutations are known to lead to an earlier onset of iron overload.…”