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Hereditary Hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism. The frequency of the gene carriers among Northern European descent is estimated to be 1 in 10, resulting in up to 1: 200 homozygous subjects being predisposed to develop the disease

HH is characterized by progressive accumulation of iron in various organs (liver, heart, pancreas), ultimately leading to liver cirrhosis, diabetes, arthritis, cardiomyopathies, and premature death

A number of mutations within a novel MHC class I like gene have been identified and related to HH. In the majority of Caucasian HH patients homozygosity for a single point mutation (C282Y) in exon 4 is observed . In addition, compound heterozygotes for C282Y and one of two other common mutations (H63D, S65C) within exon 2 are at increased risk for developing Hemochromatosis

Molecular genetic testing for HH-associated mutation is considered valuable for carrier identification and well as for presymptomatic diagnosis of the disease. With early detection and simple and very effective treatment by therapeutic bleeding (phlebotomy) in order to remove the iron overload, irreversible organ damage can be completely prevented and survival of patients can be markedly improved

We, in our lab, test for the following genes mutation: H63D; S65C and C282Y

 

We, in the First Medical Laboratory , are determined to bring the best of laboratory medicine in clinical practice to Jordan

Please call us for any further information

.Dr. Hussam Abu-Farsakh, M.D

American boards of Anatomic, clinical pathology & Cytopathology