Hemochromatosis

By: Silvy Park

What is it?

Hemochromatosis is a disorder in which the body stores too much iron (excess iron is not effectively removed from the blood). This is dangerous because too much iron is toxic and can poison your organs, resulting in severe organ failure and even death. Common symptoms include joint pain, fatigue, general weakness, weight loss, and stomach pain. The prognosis for people who have hemochromatosis depends on how much organ damage they have upon diagnosis. Therefore, early diagnosis is important for treatment. Moreover, Hereditary Hemochromatosis, or HH, is more common in Caucasian men. In fact, some research highlights that men are five times more likely to have it than women.

The HFE Gene

The HFE gene is responsible for the genetic variation. It makes sense that the variations change the gene expression because the gene encodes for the hemochromatosis protein in humans and regulates iron absorption by regulating the interaction of the transferrin receptor with transferrin.

There are two main alleles in the HFE gene: rs1800562, also known as C282Y (risk genotype AA), which can cause a serious form of Hemochromatosis and rs1799945, also known as H63D (risk genotype GG), which can cause a mild form of Hemochromatosis [4].

Besides Type 1 HH, there are also Type 2 and Type 3 hemochromatosis, which are both also recessively inherited. Type 2 hemochromatosis results from mutations in the HJV or HAMP genes, while Type 3 hemochromatosis results from mutations in the TFR2 gene.

Pros and Cons: Why Should You Get Tested?

Pros:

Hemochromatosis is one of the most common hereditary disorders in the United States, with about 1 in every 8-12 Caucasians in the United States being a carrier (one copy of the HFE defect) and about 5 in every 1,000 to have two copies of the HFE defect [3].
Genetic testing can show whether you have one or two recessive HFE gene(s).
You can be prepared. Symptoms of hemochromatosis usually appear in men between the ages of 30 and 50. Symptoms often do not appear in women until after age 50 or after menopause, most likely because women lose iron from the blood loss of menstruation and childbirth.
Getting a test done can help a person avoid serious symptoms of the disorder. If left untreated, the disorder can lead to cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, heart disease, liver cancer, depression, and fatigue, all of which can be easily avoided if a person is treated beforehand [4].
HH is a candidate for genetic screening because the mutations associated with HH are present at birth, even though symptoms do not show up until adulthood.
If people who have hemochromatosis want offspring, genetic testing and counseling can determine the likelihood of the parents passing the HH genes on to their children.

Cons:

Having two copies of the Hereditary Hemochromatosis alleles will not necessarily cause the disorder.
Tests cannot predict whether you’ll develop signs and symptoms of hemochromatosis. Therefore, there is no strong evidence supporting a connection between these variations and the trait in questions [1].
The test is relatively expensive, considering that the odds of actually having Hereditary Hemochromatosis and its extreme symptoms are very unlikely.

Testing

A recommended test for hemochromatosis is an iron panel of blood tests. A complete iron panel typically includes the following: Ferritin, Transferrin Saturation %, Serum Iron, and TIBC/UIBC [5]. DNA genetic testing can be done by collecting calls from the inside of your mouth using a cotton swab or drawing blood from an arm vein [3]. Cost is usually around $100 to analyze the HFE gene. A comprehensive genetic test that analyzes five genes associated with HH is shown below. Cost varies but is usually less than $100.

Q & A:

If someone in the family has already tested positive, what are the chances that a child, nephew, aunt will test positive?

Most people who have HH inherit two hemochromatosis genes, one from each parent. Having a person in your family with HH does increase your chance of having HH as well, but not everyone who inherits the genes develops symptoms or complications of the disease.

What should be your plan if you test positive or negative?

HH can be easily treated by phlebotomy or regular donation of blood to reduce blood iron levels. Iron chelation therapy uses medicine to remove excess iron from your body. However, those with two copies of Hereditary Hemochromatosis who are diagnosed as not having Hemochromatosis should still familiarize themselves with the symptoms in case it develops later.

What type of screening is recommend if you do test positive?

If you test positive for the HFE gene mutation, it is recommended that you test for Hemochromatosis through an iron panel of blood tests.

What type of environmental factors should you consider changing in response to a positive test?

Keeping a low-iron diet can help a lot. For example, avoid taking iron pills and limit the intake of Vitamin C.

References

[1] Adams, P. C. (2002). Screening for Hemochromatosis. BC Medical Journal, 44. Retrieved from https://www.bcmj.org/articles/screening-hemochromatosis—should-we-do-last-test-first

[2] Chandrasekharan, S., Pitlick, E., Heaney, C., & Cook-Deegan, R. (2010). Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis. Genetics in Medicine, 12. doi: 10.1097/gim.0b013e3181d7acb0

[3] Hemochromatosis. (n.d.). Retrieved from https://www.nhlbi.nih.gov/health-topics/hemochromatosis.

[4] Hemochromatosis. (2018, May 21). Retrieved from https://www.snpedia.com/index.php/Hemochromatosis.

[5] Lewis, E. (2019, July 25). Hemochromatosis Lab Testing. Retrieved from https://hemochromatosishelp.com/hemochromatosis-testing/.

Athens Rivers Alive – Silvy Park

On October 5th, I participated in the Athens Rivers Alive clean-up. I specifically volunteered at the MLK Greenway site with about twenty other volunteers, some of which were also from our biology class. The site was very close to a river, so I could hear and see the water. I saw lots of trash, especially broken pieces of glass, and my main role was to pick up as much of that trash as I could. Thankfully, the volunteer crew provided us with gloves, so I could safely pick up the glass pieces. One of the main coordinators of the event spoke to us about the history of the location and explained why there was so much trash embedded into the ground. Apparently, back in the day, people would put the trash into the ground of sloped areas in an attempt to prevent erosion. Overall, although the event was tiring, I enjoyed it.
It disappointed me that there was so much trash, even though Athens Rivers Alive does the clean-up every year. In my mind, I was expecting a lot of paper and rubber products, so it was surprising to me when there were so many broken glass products. However, it was interesting to dig up random items from the ground. For example, within about ten minutes of cleaning, I found a spoon and a pair of shoes.
The experience opened my eyes to the problem of pollution in Athens. Prior to the experience, I did not know that there was much much waste and trash in the city. However, now that I know, I am open to doing what I can and even participating in the event next year as well. In addition to that, I acquired more communication and collaboration skills, as it was a joint effort to clean-up the site.
As a result of this experience, I will make a more conscious effort to keep Athens clean. I learned that there is so much trash, even under the ground, and that it is a significant issue. Knowing more about this trash problem, I will be sure to volunteer at more events that involve cleaning our home.

Climate Simulation: Other Developing Nations

Africa, Central and South America, South and Southeast Asia, most of the Middle East, and the island nations of the Pacific, Indian Ocean, and the Caribbean

When I played my role in the policy exercise, I felt…

tense, uncomfortable, and even helpless. All the countries were asking for us to do more, like decrease our emissions per person), even though the developing countries have the second-lowest carbon emissions per person (2.5%).

How did your reaction, comments, feelings; and shifts (if any) in negotiating positions evolve across the rounds and discussions?

In the beginning, I did not feel as threatened. However, during the second round, all the other nations seemed to be frustrated with us because we had little to contribute towards lowering global warming below 2°C. Even though the other developing countries did not cause the problem, we seemed to be attacked, especially by the United States.

How did your group change their ideas?

After the second round, and with much pressure from the other nations, we decided to annual reduction rate from 0% to about 1.5%, but even that was not enough to lower the rate to 2%.

What prompted that change?

All the other nations pressuring us prompted that change.

In the end, do you think that emissions can be cut?

I think it will be possible if all the nations made it a priority and if all the nations would join together instead of arguing with each other about the cost. However, I do not know if this will actually happen because each nation has its own concerns.

What were the major costs and barriers to implementation of participant proposals?

As the other developing countries, we needed money and therefore, could not contribute to the costs for the global fund. We could not significantly cut emissions because the nations are still developing and progressing. Furthermore, the carbon emissions per person were already so low, it was hard to lower it even more. Being composed of many different countries made it hard for us because we had to worry about so many people and how these implementations would affect them.

How can we catalyze change in the US?

I think the best way we can catalyze change in the US is to educate the public about the danger of not doing anything towards global warming. Furthermore, the issue of global warming needs to be a bigger priority than it is currently.

Watershed Post Photo Reflection – Silvy Park

In this picture, I see an example of a culvert. It is surrounded by nature (leaves of trees, soil, and grass).
What I notice⁠ in this picture is that the culvert is very well hidden. As previously stated in the PowerPoint, it is “out of sight out of mind.” It struck me that it did not stick out at all.
This picture makes me wonder about the following question: How many people noticed the culvert upon first glance? Moreover, I wonder how many people even knew that what they interpreted as “underground tunnels” are called culverts because to be completely honest, I did not know the proper name before this class either.
Before I knew what culverts were, I was indifferent. Because they were covered, I felt that they were insignificant. However now, when I look at this picture, I feel upset. I have noticed culverts before but never bothered to learn about them.
I think this picture is about how culverts, although hidden, play an important role (both harmful and beneficial). Although culverts are beneficial in that they reduce erosion and provide drainage, they also prevent plants from using photosynthesis to receive energy and interrupt the flow of water.

Silvy Park

2) a) I have taken honors biology, honors chemistry, and AP chemistry in high school.

b) I preferred the biology class more, although I took more chemistry classes.

3) From this class, I would like to learn concepts about biology that will be helpful in my life. I want to apply the learned concepts to my life instead of just learning and forgetting about them after the course is complete.

4) In my opinion, group projects, especially when it comes to helping out the environment, are very fun and interesting. At my high school, we had many service projects that included cleaning up and restoring the exterior of the school. Thinking about my peers, I believe issues that affect them like water quality will be the most appealing.

5) By helping with the service-learning, I would learn the extent of how we as humans are affecting the planet and feel a sense of community. I believe that seeing the effects firsthand will teach me to change the way I think and live. Additionally, I would learn about how to implement public strategies.

6) In general, I would like to learn more about the quality of water (the pathogenic organisms) since it affects human health.