Cystic Fibrosis Among White Americans

Cystic Fibrosis is not only the most common, but the most deadly inherited disease that affects Caucasian Americans. Cystic fibrosis is a disease in which a mutated gene causes a thick and sticky mucus to be produced, resulting in mucus build up in the lungs and digestive tract. This is turn causes life threatening lung infections and serious digestive problems.

There are approximately 30,000 Americans that have CF with about 1,000 new cases per year. The disease is most common in Caucasians of Northern European descent. It has been found that Cystic Fibrosis is much more common in White Americans than African Americans, Hispanics, and Asian Americans. Millions of Americans are carriers of this mutated Cystic Fibrosis gene, but an affected person must inherit two of these genes in order to display symptoms of the disease. Studies suggest that at least one in 29 White Americans carry the cystic fibrosis gene.

This specific gene mutation is thought to have arisen during the Stone Age in Europe and spread through hunters and gatherers across the continent and eventually to the US during migration. The gene is though to be 52,000 years old. Recent studies also show that even though Cystic Fibrosis is lethal when you inherit two of these mutated genes, there may be some evolutionary benefit to the carriers of this gene because if there were no selective advantage to the gene, it would have disappeared thousands of years ago. Because this mutated gene has persisted all these years is the reason why Cystic Fibrosis is so common today. It is not entirely clear to researchers what this specific advantage is, although they have come up with theories that the cystic fibrosis gene offered Cholera resistance and protection against diarrhea and dehydration. This is thought to be because CF disrupts salt and water balance in the body, which is the cause of the thick mucus build up.

I think that for genetic factors, this gene has become so prevalent because cholera and even diarrheal diseases were considered fatal to inhabitants of Western Europe when this mutated gene evolved, so there would have been a huge selective advantage to this gene. There are not so much social determinants to account for the occurrence of Cystic Fibrosis, but an early diagnosis scan improve survival. Antibiotics, inhalers, and other therapeutic medications can help quality of life for those wealthy enough to afford them.

Race, genetics, and health are three factors that are all intertwined in determining the occurrence of diseases among populations. Certain mutated genes are definitely more prevalent in specific races than other, which can lead to health or illness, depending if the mutation is positive or negative. Like the lecture stated, biologically discrete races do not exist. So even though there may be genes that are more common to certain cultural races, this does not mean only these races experience these diseases. For example, the lecture talked about Pima Indians and the occurrence of Type II diabetes. These altered genes that allowed for the quick processing of sugar and efficient fat storage got passed through genetic drift because these populations lived very near one another and rarely married outside their culture, which is why the mutation survived. However, this is not to say this mutation would not be passed to someone outside this culture through reproduction.

Sources:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/

http://www.lung.org/assets/documents/publications/solddc-chapters/cf.pdf

http://www.nytimes.com/1994/06/01/us/cause-of-cystic-fibrosis-is-traced-to-the-stone-age.html?pagewanted=all&src=pm

Tay Sachs & Ashkenazim [European] Jews

Google Image Result for http://www.textmed.com/heatmaps/disease/tay-sachs-disease-us-heatmap.gif

I chose to do this post on Tay Sachs and about how it is so prevalent in the Ashkenazim Jewish population, which means European Jewish individuals. The reason I chose this was because my ancestors were Jewish and from Europe, so there is a chance that I could be carrying this gene without realizing it, though chances are slim, since no one in my extended, nor immediate family has this disease.

Tay-Sachs is a disease that is the result of a genetic mutation; it is fatal and affects the central nervous system. It is the result of the HEXA gene, located on chromosome 15; what occurs is that children have the deficiency of the enzyme, Hex X. When this occurs, a fatty substance accumulates in in nerve cells of the brain.

There are two different kinds of this; infantile tay-sachs disease and late onset of tay-sachs disease. Infantile Tay-Sachs starts to show signs when the infant is around six months old; by age two, most children with this condition have seizures and decreasing mental state. This is fatal and death happens between the ages of five and eight years.

Late onset of Tay-Sachs disease, otherwise known as Chronic GM2-Gangliosidosis. Onset of this second form usually during adolescence, but has the ability to occur during prepubescence as well. Symptoms associated with this are tremors, slurred speech, and poor coordination.

Currently, there is no treatment for Tay-Sachs, health care professions are only able to help the patient with their reoccurring symptoms.Blood tests are the only way to test to see if a fetus has the disorder.

The only reason race plays a role, with regards to Tay-Sachs and Jewish individuals, is due to the fact that this specific disease only affects the European Jewish population, which is primarily composed of individuals who are Caucasian. An example of race playing a role with disease, is this one, or when you look at the prevalence of African Americans that have Sickle Cell Disease. Individually, your health doesn’t play a role in a person getting Tay-Sachs, since you can only get it from your genetics, not from the lifestyle that you lead. An example of this could include heart disease, which you can obtain from having poor diet and no exercise. Lastly, genetics plays a prominent role in this disease, because you can only get it if you inherit it from your parents. Another example of genetics playing a role in disease, could be considered color blindness, or certain forms of cancers such as breast cancer.

 

Sources

http://www.haaretz.com/print-edition/news/tay-sachs-the-jewish-disease-almost-eradicated-1.147493

http://www.mazornet.com/genetics/tay-sachs.htm

 

Heart Disease among African Americans

 

CHD Rates

 

(Rahaman, 2011)

“Heart disease includes a variety of problems that affects the heart muscle and vessels. This can include hardening of the arteries, narrowing of the arteries, irregular heart rhythm and blood pressure issues. There are different types of heart disease and diagnosis and treatment is based on the type and severity. Both men and women can be affected by this disease and risk factors can be based on lifestyle choices as well as genetics”. (Rozanski-harlach)

Heart disease is prevalent amongst African Americans not because of a one reason there are a couple of reasons that factor in.”High blood pressure, diabetes, the incidence is very high, obesity, the incidence may be the highest, and even physical inactivity. When you put together all of these negative risk factors, you now set up a scenario where this group of individuals, unfortunately, is at extreme risk for heart disease, and in fact, that risk is realized on a day-to-day basis” (Clyde W. Yancy).  There are different types of heart disease for example there is coronary artery disease which is the most common type is the foremost source of heart attacks. Another is heart failure when the heart is not able to pump blood through the body as well as it should. We can lower our risk of heart disease by doing simple things such as exercising to main a healthy weight, keep your cholesterol low, drink alcoholic beverages in moderation, try to stay away from trans-fat, and etc.

I believe there is a relationship between health and genetics but I didn’t believe race in that relationship. Race is something that society created and like it was said in the second lecture there is no examination for race.  In the first lecture genetics play an important part in Africans developing immunity towards malaria. With them developing an immunity to malaria their health was not in jeopardy.

Bibliography

Clyde W. Yancy, M. M. (n.d.). Why Is It Important For African-Americans To Be Especially Aware Of Their Risk Factors For Heart Disease? Retrieved from ABCNEWS.

Rahaman, D. S. (2011, February 9). Coronary Heart Disease and Stroke Deaths. Retrieved from http://www.drsforamerica.org.

Rozanski-harlach, A. (n.d.). Define Heart Disease. Retrieved from eHow.com: http://www.ehow.com/about_5295098_define-heart-disease.html?ref=Track2&utm_source=ask

 

Cystic Fibrosis among White Americans

 

The health disparity I chose is Cystic Fibrosis (CF). The reason I chose this topic is because I had learned a little bit about it in my last class.   CF is an autosomal recessive disorder that is the most common lethal inherited disease in white Americans.  CF is a disease of the mucus glands and affects multiple organs systems.  Characteristics of CF include: chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients.  Lung disease is the main cause of death.

The prevalence of CF in Caucasian newborns is 1 in 2,500 to 3,500.  Cystic Fibrosis affects about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.  The reason why it is so prevalent among white Americans is because the genetic mutation spread throughout Europe during the Stone Age. Approximately 1 in 20 white people have the silent cystic fibrosis trait.   CF, however, is only lethal when the mutation is inherited from both parents.

Preventing CF is not possible at this point because there is no cure.  There are medications and treatments that can extend the life of someone who has CF, which the United States has the highest survival age.  Based on a study it was found that males and people with a higher socioeconomic status have a higher survival age.  People with a higher socioeconomic status have more access to treatments and medications therefore have more opportunity to survive longer than those who don’t have access to treatments and medications.

Race, genetics, and health sometimes all go hand-in-hand but not always.  As we saw in the lecture about Sickle Cell Anemia and Malaria, these two were higher among the African races.  That’s because Malaria occurs highest in African countries.  Genetics obviously plays some part because Sickle Cell Anemia is higher in Africans but environmental factors also affect health.  There isn’t as much access to health care in certain African countries as there is here in the United States.  Therefore, people can’t prevent themselves as much from getting Malaria because they don’t have the same access to medications and treatments.

Picture of the Inheritance of Cystic Fibrosis

Sources: http://emedicine.medscape.com/article/1001602-overview#a0101

http://ghr.nlm.nih.gov/condition/cystic-fibrosis

http://www.nytimes.com/1994/06/01/us/cause-of-cystic-fibrosis-is-traced-to-the-stone-age.html?pagewanted=all&src=pm

http://www.medicinenet.com/cystic_fibrosis/page2.htm

 

Cystic Fibrosis Among White Americans

 

http://www.ntdlabs.com/molecular-testing/

This table show the carrier frequency of cystic fibrosis in different ethnicities.

Cystic fibrosis is a common genetic disease within the white population in the United States.  It is an autosomal recessive disease that occurs in 1 in 2,500 Caucasian newborns, 1 in 17,000 African Americans, and 1 in 31,000 Asian Americans.  According to http://ghr.nlm.nih.gov/condition/cystic-fibrosis, Cystic fibrosis is caused by a mutation in the CFTR gene that disrupts the function of chloride channels and causes “cells lining the passageways in the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky.”  The mucus clogs the airways and glands causing the symptoms.  The main symptoms are persistent coughing, frequent lung infections, wheezing or shortness of breath, and poor growth/weight gain in spite of a good appetite.  http://www.cff.org/AboutCF/ In the end, it is usually end-stage lung disease that is the principal cause of death.

A possible reason that cystic fibrosis is common in white Americans could be similar to the situation where people who are carriers for the sickle cell anemia are resistant to malaria.  An article, Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model suggests that “cystic fibrosis heterozygotes might possess a selective advantage of resistance to cholera”.  Since cholera was a problem in Western Europe in the 1800’s they could have passed on the resistance to their offspring leading to a larger number of the population being carriers for cystic fibrosis.

In lecture 2.2 it said there is no way to genetically test for race.  So I would say that there is no direct relationship between race and genetics.  There is obviously a relationship between genetics and health considering how mutations in genes can affect someone’s health, but genetics is not the only factor that determines health.  Also according to lecture 2.2 you have to self identify yourself as black to be prescribed BiDil.  The fact that you can self identify yourself as one race or another sounds like you could identify yourself as black one day and as white the next. If that is true, and then your health doesn’t change at the same moment you change your mind, then I would say there isn’t any real relationship between race and health.

http://www.ntdlabs.com/molecular-testing/

http://ghr.nlm.nih.gov/condition/cystic-fibrosis

http://www.cff.org/AboutCF/

http://www.sciencemag.org/content/266/5182/107.abstract

http://advan.physiology.org/content/29/2/75.full

White Women & Breast Cancer

I researched Breast Cancer in White Women. Although, I don’t know anyone who has actually had breast cancer, I have been effected by cancer in general, and believe it is a terrible thing to have to go through/deal with. The fact that White women are more likely to get breast cancer than anyone else is alittle scary (I guess I’m lucky to not have been effected by it anyway thus far).  Breast Cancer, like any cancer occurs as a result of environmental interaction with a defective gene.  In this case it is from malignant(cancer) cells forming in the tissues of the breast, typically in the ducts.  It is considered a heterogeneous disease, which differs by individual, age group, and even the kinds of cells within the tumors themselves. Also it is not predisposed to just women, but men as well.  Being a geneticcly suceptible disease (more likely to occur if someone in your family has/had it) shows the effect genetics plays in our being more prone to this disease. As does societal/environmental factors (oral contraceptives, etc)

chart provided by: http://www.cdc.gov/cancer/breast/statistics/race.htm

However, the research suggested that white females may be the most likely or to be diagnosed with Breast Cancer each year, but we are far from the highest in mortality from it. The chart below shows disparities between black & white females, but the difference spans more than just the two. These differences are most likely due to societal & cultural norms or pressures, social & economic standing, and availability to proper medical care (screenings,medications, hospitalizations, etc.), as well as differences in genetics & types of tumors/cancer. The disparity between black & white females is so great that while both have declined in average incidents over the years, only whites have declined in mortality, while blacks have increased.

chart provided by:  http://ww5.komen.org/breastcancer/statistics.html

Using the materials we covered in class, its easy to see the influence of things like genetics and environmental factors, on health.  One’s environment can play a huge role, and be a major detriment to ones life.  It determines living conditions, job, income, diet, stress levels, and essentially health. Genetics, are obviously wired into your system & therefore a perminent part of who you are & what your health is like.  However, using race as a determinant is not so easy.  There is no true definition of race, and it is dependent on the individual.  People may concider themselves a race that others may not have, or maybe they concider themselves multiple races.  Its not something that can be pinned down & its all dependent on genetic variants. Because of this, defining or limiting diseases by Race & genetics is a near impossible thing to do.

 

http://www.cdc.gov/cancer/breast/basic_info/

http://ww5.komen.org/Default.aspx

http://www.nationalbreastcancer.org/

 

Heart Disease among White Americans

Map for heart disease, white males

http://www.cdc.gov/nchs/images/atlas/hdwm.gif

Heart disease is the leading cause of death in the United States for both men and women, causing roughly one fourth of all deaths every year. Heart disease is the leading cause of death for most ethnicities including African Americans, Hispanics, and whites. For those ethnic groups that it is not the leading cause of death, heart disease is second only to cancer. Heart disease is most prevalent however in white Americans with 25.1% of deaths each year. Heart disease may be this prevalent in whites for many different reasons. Leading causes to heart disease include inactivity, obesity, high blood pressure, smoking and diabetes. We can write off obesity as the reason more whites are dying of heart disease, as blacks and Hispanics have a higher rate of obesity than whites. Also surprising, is that African Americans have a higher rate of high blood pressure than white Americans. The minorities also have a higher rate of smoking and diabetes than white Americans. So why then do whites have a higher rate of heart disease than minority groups? I believe that it has something to do with stress levels and inactivity. I was unable to find any data for this, but I would imagine that the amounts that white americans are inactive is higher than the inactivity found in minority groups. I don’t think that is is any kind of genetic predisposition to heart disease, but more of a socially determined thing, with more white Americans having higher income and what might be considered an easy life style, at least as far as physically.

 

I believe that there is a close relationship between race, genetics, and health. Obviously genetics has control over what a persons race may be and it also can affect a person’s health in a whole multitude of ways. For instance, a person may be genetically inclined to have high blood pressure or high cholesterol which would put them at risk for heart disease. Race can also play a part in health. While there are no actual restrictions on certain races not getting medical care, there are definitely social factors that play into who has access to quality medical care or who has access to good health insurance, etc.

 

 

http://www.cdc.gov/heartdisease/facts.htm

http://www.cdc.gov/Features/dsObesityAdults/

http://www.atlantamedcenter.com/en-us/ourservices/communityservices/pages/what%E2%80%99s%20race%20got%20to%20do%20with%20high%20blood%20pressure.aspx

Asian Americans are more likely to die from complications in hospital care

The first problem is the general grouping of Asian Americans. Asia is a huge area with over 100 different cultures and 48 countries, and to say that someone from India would be the same as someone from Mongolia would be a complete understatement. In order to understand race in context with health disparities, specific groups must be targeted. Without the lack of specific data on specific ethnicities and their living environment, it’s hard to make a conclusion based upon a community and in this case Asian Americans.

For example, according to this NPR interview, (http://www.npr.org/templates/story/story.php?storyId=127091480) many Korean Americans are four times more likely to have no health insurance than others. Native Hawaiians and Pacific Islanders experience high rate of diabetes and obesity. U.S. Born Vietnamese women, are four times greater of dying of breast cancer than other groups. Even as Americans, each specific Asian group is overcome and affected by different health care access, symptoms, illnesses, and diseases. To say that this is mainly caused by genetics is possible, but there is more of an underlying issue than just those aspects.

There is also said to be a model minority myth for Asian-Americans in that they don’t suffer from health problems. In the case of not dealing with many Asian American patients, some physicians could and have believed this idea.(http://www.npr.org/templates/story/story.php?storyId=127091480).

The second issue would probably be communication. Language barrier is a huge issue for immigrants, and particularly among the first generation. My dad as an immigrant does not speak English fluently, and when he had intestinal and stomach pain he refused to go see a doctor. Mainly due to the fact that he didn’t want to go alone without my mom who speaks English fluently. It seemed that the idea of just going to the doctor gave him more pain from the stress and anxiety than the physical pain.

Not only on the part of the patient, but the doctor or hospitals should make it a priority to hire translators or make sure that each other is understood based upon symptoms. Different languages have different ways to describe their symptoms, while as some symptoms don’t exist and even the words to describe it don’t exist in translation.

In an emergency situation, there aren’t going to be translators, and without speaking the same languages, there will probably be miscommunication and misunderstanding of certain pains and symptoms, and more importantly providing the best care and treatment. In the case study of the Hmong child in The Spirit Catches You and You Fall Down, is a perfect example. From the perspective of the Hmong family, evil spirits had taken over the girl, but the hospital diagnosed her with severe epilepsy. Long story short, there was much miscommunication and lack of understanding on both parts linguistically and in their cultural ecology. Thus, not giving the child the proper treatment and delays in what we would be the best for her current state. The idea of genetic determinism can easily misconstrue the idea of social race versus biological race.

Atrial fibrillation among white populations

My mother is a registered nurse working in the emergency room, so I asked her opinion of what she found to be the most common disease among people of typically European (white) background. Cardiovascular disease and atrial fibrillation were her suggestions, but cardiovascular disease is actually most prevalent among those who identify themselves as African-American. Atrial fibrillation, however, is the most prevalent among white populations.

Prevalence of Atrial Fibrillation by Race and Age

 (source: National Stroke Association, http://www.stroke.org/site/PageServer?pagename=afib_main)

Atrial Fibrillation is a condition the electrical signals or pathways occurring in the atria (top of the heart) are abnormal and erratic, resulting in an irregular heartbeat. When an irregular heartbeat occurs, the atria cannot contract correctly and as a result blood flow is reduced by their quivering. In 15 to 20 percent of strokes, atrial fibrillation is the cause. (source: Center for Heart Rhythm Disorders, http://www.nmh.org/nm/program-for-atrial-fibrillation?gclid=CLfEqtqzl7ECFYao4Aodyw3ofA)

In interesting aspect of Atrial Fibrillation is that while the disorder is consistently most prevalent among white populations, those of African-American ethnicity are still less likely to be diagnosed or treat the disorder even when they have it. In 2010, the American Stroke Association conducted a study called REGARDS thought found that “Electrocardiograms [ECG] done at the start of the REGARDS study showed 432 people (88 black and 344 white) in the study group had atrial fibrillation”, however, “blacks were approximately one third as likely to be aware that they had AF as whites”. This seems to indicate that the prevalence of AF among whites is largely genetic, but differences in diagnosis and treatment favoring white populations increases the disparity. (source: American Stroke Association, http://www.stopafib.org/newsitem.cfm/NEWSID/251/African%20Americans%20and%20atrial%20fibrillation/stroke%20incidence%20in%20blacks%20in%20southeast%20US)

Race, genetics, and health are intertwined in an intricate way, and this is especially true considering the debate over the existence of race. When drugs such as Bidil seem to be more beneficial to groups who identify themselves as African-American, race seems to exist. However, one has to identify as such, it is not the result of a medical test. The cultural complications of economic gain and past influences such as the eugenics project further complicate the issue. Genetically, health can be affected both positively and negatively. This is especially visible among African populations at constant risk of malaria. Those carrying a single sickle-cell gene are protected from the disease, however, two protected parents may produce a child with crippling sickle cell anemia. Consistently, race (social factors) and genetics weigh heavily upon one’s health.

 

 

Prevalence among Caucaian Women

 

 * I tries fixing the picture but it isn’t working. You can click in the link to get a clearer picture. The graph states:

Percent of Women:

  • Total: 10.1
  • Non-Hispanic White: 12.6
  • Non-Hispanic Black: 3.2
  • Hispanic: 3.5

Source:

U.S. Department of Health and Human Services

Health Resources and Services Administration Website

http://mchb.hrsa.gov/whusa09/hstat/hi/images/49a_bar_OSTEOPOROSISrace.gif

 

Osteoporosis had found to be more prevalent among Caucasian women compared to other ethnicities. The graph above shows that among Non-Hispanic Whites it about 4 times higher than in Non-Hispanic Black and Hispanics. Some of the risk factors for osteoporosis could shed some light on why Caucasian women are more susceptible to it. Since family history of osteoporosis is a risk factor it is easy to see that there is a genetic component it would create a health disparity among a group. Also the US National Library published an article that states that there is a correlation between bone density and race which would cause some ethnicities to have bones that would be weaker and easier to fracture since they would have a lower bone density to the other ethnic counterparts. Similarly hormones play a role in osteoporosis and therefore could be another key to why there is a health disparity among Caucasian women. Since hormones can be affected by some foods in a person’s diet and different ethnicities consume different foods then there could a correlation between hormones levels and different ethnicities.

From this week’s lectures it was shown there is a relationship between race, genetics and health. The relationship between race and genetics is closely related. In lecture 2 this week we talked about the Genotype Hypothesis. Since there is a genetic drift and gene flow among races their genetics are similar as well. The relationship between genetics and health is also interrelated. Some genes can cause or prevent certain illness and consequently affecting one’s health. Furthermore from lecture 2 we learned that the Pima Indians which are a race that shares similar genetic material has a health disparity with Type 2 Diabetes which causes this group to have a statistically higher chance of having the disease. This shows there is a link between race, genetics and health.

Sources:

1. National Osteoporosis Foundation

http://www.nof.org/node/40

2. Racial difference in the correlates of bone mineral content/density and age at peak among reproductive-aged women

A. B. Berenson, M. Rahman, G. Wilkinson

Osteoporosis Int. 2009 August; 20(8): 1439–1449. Published online 2009 January 13.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708327/