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Created with Fabric.js 1.4.5 Hereditary Hemochromatosis (HH) Testing Treatments Demographics image: cdc.gov The HFE gene carries the genetic instructions to make theHFE protein. In some people there is a small mistake inthe letters of their HFE gene. In the middle of the instructions,there is an “A” instead of a “G” which translates into a slightlyaltered HFE protein. This mutation has been named C282Y.This altered protein can no longer effectively regulate the amount of iron the body absorbs and the result is uncontrolleduptake of iron known as HH. Hereditary Hemochromatosis (HH) is an inherited disorder thatprevents proper iron regulation in the body and can lead to a build-up of iron in body tissues and organs including the liver, heart, andpancreas. Symptoms may include weakness, lethargy, liver cirrhosis,cardiomyopathy, diabetes, arthritis, and hypogonadism. Not all people with 2 copies of the C282Y mutation will show symptoms of HH. This is why,at this time, the Centers for Disease Control (CDC) does not recommend universal genetictesting. Although, people who are related to individuals with HH are encouraged to gettested, as they are at a much higher risk. Currently,companies such as DNADirect,Genelex, and Health Check USAoffer Direct-to-Consumer (DTC) genetics tests for HH. The C282Y mutation that causesover 80% of HH cases is recessive,meaning that a person needs to receive the C282Y mutation fromBOTH parents in order to contractthe disease. Individuals with only one copy are not affected. Although there currently is no “cure” for HH, treatment is so effective that many patients are left symptom free and lead normal lives. Because HH results from unregulated uptake of Iron into body tissues, treatments focus on reducing the amount of iron in the body. Many patients will begin a regular phlebotomy treatment. Like normal blood donation, 1 pint of blood is removed at regular safe intervals to reduce iron levels in the body. Once iron levels have been reduced to an acceptable level the blood letting will only need to takeplace a few times a year. Females usually do not usually require as many treatments, as their monthly menstration can help lower iron levels. Patients are advised to maintain a diet low in iron and to refrain from taking vitamins or supplements that include iron. Vitamin C supplements are advised against, as it can lead to an increase in blood iron levels. at a glance... Although HH was first documentedin 1865, the genetics behind thedisease have only recently beendiscovered. The gene responsiblefor HH is known as HFE and islocated on chromosome 6. In1996 all of its DNA bases weresequenced. A normal HFE geneconsists of over 10,000 A’s, T’s,C’s & G’s; yet a certain change injust one specific letter can lead to HH. HH is a predominantly Caucasiandisease with the highest occurrencesin individuals from Europe and the USwith little to no occurrences in Asia, the Middle East, or Africa. Amongindividuals of European descent,approximately 9% carry 1 copy ofthe HH mutation though they do nothave the disease, and 0.5% have 2copies and are very likely to have thedisease. image: cdc.gov Researchers from aroundthe world are currently utilizing highly advanced DNA reading machines andsuper computers to study the HFE protein and how it goes wrong in HH. They shareinformation via huge on-line databases.With these they can: -Examine the DNA sequences of the gene, including all its known variations. -Explore similar genes in humans and other organisms. -See models of the HFE protein and how it interacts with other proteins. -Research others' work and publish their own.
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