Hemochromatosis: Hereditary hemochromatosis and HFE gene.

Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic effects. HH is one of the most common genetic disorders in individuals of European descent. Genetic polymorphisms of the HFE gene (rs1800562, rs1799945 and rs1800730) also affect the normal activity of another protein, hepcidin, a negative regulator of iron homeostasis. If left untreated, hereditary hemochromatosis can lead to morbidity and eventually death. Clinical onset hereditary hemochromatosis symptoms occur more frequently in adult men than women, as the monthly loss of iron due to menstruation in women slows down accumulation and the symptoms usually start appearing after menopause. Therapeutic phlebotomy is the primary form of treatment for this disease so far, combined with the use of chelating agents. Orthotopic liver transplantation (OTL) is performed in patients with advanced cirrhosis. In order to prevent the progression of iron accumulation, an early detection may be achieved by genotypic check of the frequent mutations of the HFE. Consequently, initiation of treatment may take place before the development of clinical symptoms, particularly cirrhosis, contributing significantly in achieving normal life expectancy. Therefore, genotypic check is vital in order to prevent the development of this type of hemochromatosis.

Correction to: Population-Based Analysis of Cluster Headache-Associated Genetic Polymorphisms.

The original version of this article unfortunately contained mistakes in author group section.

Population-Based Analysis of Cluster Headache-Associated Genetic Polymorphisms.

Cluster headache is a disorder with increased hereditary risk. Associations between cluster headache and polymorphism rs2653349 of the HCRTR2 gene have been demonstrated. The less common allele (A) seems to reduce disease susceptibility. The polymorphism rs5443 of the GNB3 gene positively influences triptan treatment response. Carriers of the mutated T allele are more likely to respond positively compared to C:C homozygotes, when treated with triptans. DNA was extracted from buccal swabs obtained from 636 non-related Southeastern European Caucasian individuals and was analyzed by real-time PCR. Gene distribution for the rs2653349 was G:G = 79.1%, G:A = 19.2%, and A:A = 1.7%. The frequency of the wild-type G allele was 88.7%. The frequencies for rs5443 were C:C = 44.0%, C:T = 42.6%, and T:T = 13.4%. The frequency of the wild-type C allele was 65.3%. The frequency distribution of rs2653349 in the Southeastern European Caucasian population differs significantly when compared with other European and East Asian populations, and the frequency distribution of rs5443 showed a statistically significant difference between Southeastern European Caucasian and African, South Asian, and East Asian populations. For rs2653349, a marginal statistically significant difference between genders was found (p = 0.080) for A:A versus G:G and G:A genotypes (OR = 2.78), indicating a higher representation of male homozygotes for the protective mutant A:A allele than female. No statistically significant difference was observed between genders for rs5443. Cluster headache pathophysiology and pharmacotherapy response may be affected by genetic factors, indicating the significant role of genotyping in the overall treatment effectiveness of cluster headaches.