
Here I present: “Hemochromatosis”, Victor McKusick, Mendelian Inheritance in Man’ 1966.
INTRODUCTION.
Iron (Fe) is among the twenty-four (24) essential elements’ of the human body. Normally, the human body is 0.06% percent iron; however, this six-hundredths (0.06%) percentage is increased in “hereditary hemochromatosis (HH). This “iron-overload” results in precipitated iron-deposits in the liver (shown ABOVE). People with “iron overload” classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin.
The iron storage disorder hereditary hemochromatosis (HH) is an autosomal recessive genetic disorder that usually results from defects in genetics. Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HH gene. The HH gene cytogenetic location is 6p22.2 ; and, genomic coordinate 6:26,087,429-26,098,343 the screenshot of 10,915 bp (base pairs) of DNA length is shown BELOW.
