Hereditary Hemochromatosis Gene Mutations in the South Eastern Region of Turkey
Journal Title: Artuklu International Journal of Health Sciences - Year 2021, Vol 1, Issue 1
Abstract
Hereditary hemochromatosis (HH) is a common disorder of iron metabolism with autosomal recessive inheritance. Most affected patients are homozygous for the missense mutation which results in the substition of tyrosine for cysteine at amino acid 282(C282Y). A more common mutation is the substition of aspartat for histidine at amino acid 63 (H63D); this mutation may contribute to minor increases in iron levels but rarely iron overload in the absence of C282Y. Diagnosis of HH is usually based on a combination o f various genetic or phenotypic criteria. We conducted a study to describe the HH mutations in the patients with high transferrine saturation, and with clinical suspicion or findings that attributed to HH. 19 of 97 patients (19,5%) have heterozygous H63D mutations and no other mutation was detected. In our medical center all of the hemochromatosis cases are associated with secondary iron overload and no patient with HH was detected. The results of other population based studies in our country supporting our data however further population based studies are required to confirm this data in our region.
Authors and Affiliations
Semir Pasa
Keywords
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- EP ID EP708325
- DOI http://dx.doi.org/10.29228/aijhs.1
- Views 97
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