McElroy 1

Austin McElroy
Dr. Schnee & Dr. Idziak
HV Cluster
12/2/16
Prenatal Testing of Beta Thalassemia in China

Beta Thalassemia is a disorder that affects red blood cells. The defect occurs most

frequently in Mediterranean countries, North Africa, the Middle East, India, Central Asia, and

Southeast Asia. China has had a rough time determining how to deal with the beta thalassemia.

In China there has been many studies looking at the effects of prenatal genetic testing for the

disease. The ethical question of this paper is should there be mandatory prenatal testing for beta

thalassemia in China and should abortion happen if the test is positive. This paper will use

principlism as the ethical theory that the arguments will be based one, using the principles of

beneficence, nonmaleficence, and autonomy to determine to ethics of undertaking prenatal tests.

This is because of their needs to be beneficent towards the children that have this disease. First it

is important to understand the thalassemia and know both the benefits and costs of having it.

Beta thalassemia is a genetic disorder that reduces the production of an iron-containing

protein called Hemoglobin. Hemoglobin carries iron through the blood stream. This is due to

mutations in the hemoglobin subunit beta (HBB) gene, a gene which includes the instructions for

creating beta-globin. Three beta-golbin are effected by the disease. Two of the beta golbin are

deleted with the third being mutated (Genetics Home Reference). The lack of these cells leads to

fewer red blood cells, which causes anemia and iron overdoses. The treatment of the disease can

vary based off its expression of the genes. For the mild version of the disease the treatment is

occasional blood transfusions or oral medication. There also are simple solutions that can help to

keep the disease to a minimum, such as regular exercise and a diet that contains little iron. More

severe cases need regular blood transfusions and possibly bone marrow transfusion. Without
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these treatments carriers of the disease can experience iron overload, which causes trouble heart,

liver, and endocrine system, and be at greater risk for infection. The severe cases have even more

problems. Those include enlarged bones and spleen, slowed growth rate, abnormal heart rhythms

and congestive heart failure (Mayo Clinic). However it has been shown that the disease can be

manageable in all forms and there is a decreased mortality rate if diagnosed early. A lot of these

symptoms and solutions come from first world medical institutions (Lal, Goldrich, Haines,

2011). Each year 70000 infants are born with beta thalassemia and 270 million people are

carriers of genes (E Cousens, Nicole E., Clara L. Gaff, Sylvia A. Metcalfe, & Peter Harper,

2010). Populations in developing areas, such as rural China, has seen many cases of beta

thalassemia.

Beta Thalassemia been diagnosed primarily in rural and developing parts of south east

China. Researchers in 2013 found that patients with beta thalassemia in Guangxi Zhuang

province of China had 75.6% of the deletional form of the disease and 24.4% had the

nondeletional form of the disease (Fang, Chen, Zeng, Tian, Jiang, Li, Chen, Du and Chen, 2013).

The 75.6% of those with beta thalassemia were dealing with the problems of anemia and iron

overdoses. Most in China do deal with these issues with regular blood transfusions (Chang-Gang

L, Chun-Fu L, Qi L, Ming L. 2007). Researchers Chang-Gang L, Chun-Fu L, Qi L, and Ming L.

(2007) have been studying beta thalassemia in south China and how people in those regions deal

with the disease. There is also a focus of traditional Chinese herbal medication. For example they

use Yisuishengxue Granules, and herbs such as scopolamine and sodium ferulate (p.300). This

prolongs the life span of the red blood cells. There is still the problem with the disease. The

reason for the spread of thalassemia in these areas is due to the prevalence of malaria in these hot

and humid climates.

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One group of researchers (Liao, Zhou, Xie, Tang, Li, Li. 2014) ran a mandatory genetic

testing on infants in Guangdong province. The testing was done from January 2010 to December

2011. The two biggest were Guangxi, with 47 out of 246 testing positive, and Guangdong, with

472 out of 4,631 testing positive. The rest of the providences screened had less than 10% tested

positive. Some of the providences with large cities, such as Shanghai, only had 61 tested and 1

found positive.

Studies done for testing for beta thalassemia in China have been conducted a numerous

number of ways. One research group (Chang-Gang L, et. al. 2007) discussed China using a two-

step system to test for the disease in newborns. The first screening is a red blood cell fragility

test, which has a false negative 5.6-9.1% (Chang-Gang L, et. al. 2007). The second step is a Hb

electrophoresis to confirm positive cases. This test can also miss Hb H although the research

does not include the statistics of how many are missed (Chang-Gang L, et. al. 2007). The

problem is that there are many subtypes of thalassemia that makes it difficult to find carriers and

what the expressivity of the disease (Chang-Gang L, et. al. 2007). The medical problems that the

child will have to deal with also cannot be determined by the test.

Researcher Sleeboom-Faulkner (2010) looked a massive number of Chinese eugenics

pregnancy handbooks to determine what pregnant women were learning about. Sleeboom-

Faulkner found that in some books individuals are encouraged to make choices advantageous to

themselves, while at the same time, and more importantly, supporting the collective goal of

improving the Chinese stock (p.131). A lot of the handbooks emphasis getting a prenatal

checkup in order to ensure an intelligent, beautiful, healthy and lively child (p.133). For the

most part these handbooks emphasize that China is a modern and advanced society that needs to

continue to advance in the modern world. Of course these social trends raise the issue that come
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up with testing for a genetic disease. While the child is not a normal healthy baby it is still a

child can grow up living a life with a manageable condition.

This paper will use principlism as the basis for moral judgment on mandatory prenatal

testing of beta thalassemia in China. Principlism is a set of general guidelines for the formation

of the more specific rules (Beauchamp & Childress. 2001. p.12) and are intended to express

general norms of the common morality that are a suitable starting point for biomedical ethics

(Beauchamp & Childress. 2001. p.12). There are four moral principles that one has to apply

when making a moral decision. They are respect for autonomy, nonmaleficence, beneficence,

and justice (Beauchamp & Childress. 2001). This paper will use three of principles. Respect for

autonomy, which means that individuals have the right to make an informed decision for

themselves. Nonmaleficence which means that one ought not to inflict evil or harm

(Beauchamp & Childress. 2001. p.151). And beneficence which has many parts that are one

ought to prevent evil or harmone ought to remove evil or harmone to do or promote good

(Beauchamp & Childress. 2001. p.151). Using these three principles, beneficence,

nonmaleficence, and autonomy the ethics of mandatory prenatal screening with the possibility of

abortion will be examined.

There is a lot of arguments against using western philosophy in China which does not

hold the same values as the west. The Western philosophy and Chinese philosophy differ in what

they see as the most important. For the Chinese it should be the state first rather than the

individual, where in the West it is the opposite (Rodgers. 1992). Western medicine is based on

the ethics of beneficence and nonmaleficence. There is also a focus on the importance of the

rights of individual. While in China there is an emphasis on the ideals of moral self-discipline. In

general the issue is that the Chinese have an emphasis that the individual should be morally
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responsible for their actions and do what is best for everyone. While in the West there is an

emphasis on the individual rights and ensuring that pain is avoided. Of course ancient Chinese

ethics follow the western thinking. Ancient physician Sun Szu-miao professed ideals and beliefs

about how patients should be treated that are close to beneficence (Tsai. 1999). And Confusion

scholar and medical profession wrote about refraining from subjecting patients from harm (Tsai

1999). So it would seem that ancient Chinese scholars ideals fall in line with principlism.

Therefore these principals of beneficence, nonmaleficence, and autonomy cannot be ignored

when examining the ethics of policies such as mandatory prenatal theory.

Beneficence

Using the principle of beneficence there is a case to be made for allowing for mandatory

prenatal testing. In the study conducted by Liao C, Mo Q, and Li J (2005) the incidence rate of

beta thalassemia fell in the area that had the mandatory prenatal testing done. All pregnancies

with the disease were terminated expect for one, but that was due to a misdiagnosis of the infant

(Liao C, Mo Q, & Li J, 2005).

The burden also comes at the expense of the nation to take care of the patients that are

poverty stricken. Researcher Xu pointed out that it would be a struggle for China, a developing

nation, to take on the burden on taking care of individuals that have the disease. The study was

conducted in Guangdong province of south eastern China, an area that does have poverty issues

(Poverty Profile of the People's Republic of China. 2016). Guangdong also has a massive

population, in 2004 it was 74 million and growing 1 million each year (XU, 2004). Xu (2004)

found that around 0.5%-3.4% of the population was a carrier for the disease. It would a benefit to

these people and the government if these children were not born.
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A study of thalassemia done by Liao C, Mo Q, Li J, et al. (2005) looked at the results of

the eleven year carrier screening program and prenatal diagnosis. This study looked at the

biggest birth center in Guangzhou. They found 281 couples were positive with some form of

thalassemia. Genetic counseling was offered to all at-risk couples and a successful prenatal

diagnosis was performed 82 were risk for beta thalassemia major. All pregnancies with affected

fetuses were voluntarily terminated. According to the eleven year screening program the fetus

were aborted voluntarily (Liao C, Mo Q, Li J, et al. 2005). This lead to decrease in the cases of

thalassemia in that area.

A mandatory prenatal tests will help the children to understand the disease if they are

born with it. The child should also know where they stand with the disease. This is because the

child might have not be effected by the disease in their life but if they carry the gene they should

know that their children might be affected even worse and they should prepare for such.

There is are costs associated with having a child with Beta Thalassemia. By enforcing the

mandatory prenatal testing families can avoid having the burden of children with the disease.

Research into the costs of dealing with beta thalassemia have been conducted in countries both

first world and developing. A study (Riewpaiboon, A., Nuchprayoon, I., Torcharus, K., Indaratna,

K., Thavorncharoensap, M., & Ubol, B. 2010) as to what the average cost for a Taiwanese family

living to treat beta thalassemia found that annual average cost was Taiwanese 30295.50

(US$950) This is broken down to 59% for medical cost, 17% for direct non-medical cost, and

24% for indirect cost. There was were variable though that included hospital, health insurance

scheme, blood transfusion pattern, and iron chelation drug use. These also varied based on the

severity of the disease. This cost would be on the family that might be in a poverty already

(Poverty Profile of the People's Republic of China. 2016).

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There is a case to be made as well that mandatory prenatal testing with abortion should

not happen under the principle of beneficence. Beneficence would support the couple having the

child since beta thalassemia can be treated (Mayo Clinic Staff). Doering (1998) in Eugenics and

China: Where is the ethical problem? wrote on the issue that Eugenics in China is primarily a

political problem, and in particular a task for the developing state of right and education (para.

16). Doering goes on that the people need to be better educated on the eugenics program better

prepare themselves to handle these disease since being able to cope with them proves a society to

be advanced and innovative (Doering. 1998). The policy of mandatory prenatal screening with

abortion would remove this very common gene (Liao C, Mo Q, Li J, et al. 2005) from the

population.

There is also the loss of some form of protection against malaria, which is a serious issue

in the areas where beta thalassemia is most prevalent. Research coming out that is understanding

the benefits of the disease. Thalassemia has been linked to saving some from malaria (Smith,

2015). Researchers found in Papaya New Guinea that children that have alpha Thalassemia have

protection against anemia that comes with malaria (Smith, 2015). This is similar to another

disease, Sickle Cell Anemia, which has harsh effects on those with it but also gives them natural

protection in Malaria. In China malaria is widespread in the rural areas of Anhui, Guizhou,

Hainan, Henan, Hubei, and Yunnan Provinces (MD Travel Health). These areas are primarily in

eastern central China. This adds to the fact that in rural China incidence of povertywas 3.9%

in the central region (13 million people), and only 1.3% in the eastern coastal region (5 million

people) (Poverty Profile of the People's Republic of China. 2016). Screening out this gene could

lead to the possibility of protection against malaria in that area.

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It is the social trends, as demonstrated in the research of Sleeboom-Faulkner (2010), and

the laws of the Peoples Republic of China that add to the parents decision to abort children with

a condition like beta thalassemia. The laws of Maternal and Infant Health Care, which is current

one child policy. China has had some form of population control program since 1980s. It was

stepped up heavily in the 2007 and began to have a heavy focus on eugenics (Rodgers. 1992).

The policy though has shifted from their one child policy to a two child policy in 2015. As

Sleeboom-Faulkner (2010) says Chinas policy is based on popular views of social evolution,

instrumental views of birth and the assumed capacity to raise the quality of the population

(p.139). This line of thinking does not promote the well-being of those with a treatable condition.

The disease is being treated by those who have it in China (Chang-Gang L, Chun-Fu L, Qi L,

Ming L. 2007).

There is also research into offering gene therapy to support individual to take control of

the disease and save the lives of children that would be taken in early years (Boulad, F., Rivire,

I., & Sadelain, M. 2009). Bone marrow treatment is available to those with the disease. In the

past those with disease do not have siblings and siblings are the most likely candidate for a bone

marrow transplant (Chang-Gang L, et. al. 2007). The pervious One Child Policy left a long list of

candidates in need of a transplant and none able to be donors. Chinas one child policy was

overturned in 2015 to allow for two children. It is too soon to know what this will do for those

with the disease but there is the possibly that the children with the disease might have a better

chance now to live with the disease if they have a brother or sister.

A case can be made that mandatory prenatal testing for the disease with the possibly

should happen. Most born with the major form of the disease die within 5 years in the rural parts
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of China (Xu, 2004). With the assistant of prenatal testing of the disease there would not be this

loss of life and suffering if the child would be aborted beforehand.

Nonmalefience also can be suggest that mandatory prenatal testing should not happen.

The previous point should be addressed by applying the principle of non-maleficence. If one

views that life begins at conception than either way a life will end because of the disease. A

doctor should not end that life as that violates nonmaleficence.

False negatives of prenatal tests can lead to misleading information about the disease.

Due to the expressivity of the genes in question. Since there are so many variables when testing

for the gene, testing of the parents is required beforehand (Diseases & Conditions). There is also

so many subtypes of thalassemia that it can be missed or misdiagnosed (Chang-Gang L, et. al.

2007; Laio C, Mo Q, Li J, et al. 2005) Positive tests can lead to high levels of anxiety on the

subjects (Scriver, Bardanis, and Cartier, 1984). There is a chance that the tests will be a false

negative or positive because the expressivity of the trait. There is pain added to a family that has

to go through the testing and having to abort a child. These program can also lead to couples left

without the possibility of having a child themselves.

When looking at the cases of Thalassemia in areas of south east China (Laio C, Mo Q, Li

J, et al. 2005) it is shown that many times both parents are carriers of gene. The chances of

having a child with the disease are 25% when both are carriers. As demonstrated in the research

of Sleeboom-Faulkner (2010) and Liao C, Mo Q, Li J (2005) most pregnancies that are found to

be positive for beta thalassemia will end in an abortion. So there would the constant worry for

the parents if they were forced to undergo the testing that this child would had the disease.

Autonomy suggests that mandatory testing should not happen. The Swedish council of

medical ethics (2009) made it a point when discussing the ethics of prenatal diagnosis that
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women should be allowed to make educated decisions about their pregnancy and understand

what complications could happen. This includes having the option to abort the child. The couples

should be allowed to make decision as to whether or not they want to keep the child. With

mandatory prenatal testing though this is violated. Women are not given the chance to decide for

themselves if they want to take the test. Autonomy would suggest allowing for abortion to

happen but not that the prenatal tests themselves have to happen.

Ethical Decision

Beneficence should take precedent in the case of mandatory prenatal testing for beta

thalassemia with the possibility of abortion. The current trends both socially and in government

are fixated on a sense of producing super children. The attention from the research seems to be

crushing this medical condition like other genetic disease in China. This is the case for diseases

like Downs syndrome where the intention is focused on creating super children and not helping

those with the disease. That is why beneficence takes precedence in this case.. But the intention

for these screenings, from the research, is focused on creating perfect children from individuals

who might not be able to have those type of children. There is also alternatives to take in order to

treat those with the disease and promote the wellbeing of both the individual and society

(Cousens, et. al. 2010).

There are benefits of running mandatory tests that fall under the principles of beneficence

and nonmaleficence. Researchers Liao, Zhou, Xie, Tang, Li, and Li (2014) studied mandatory

genetic testing of new born and found that 1 in 500 had the disease. The researchers believed that

these tests were both justified and needed. If the test was positive the researchers informed the

new parents about the diagnosis and its management, including how to recognize potential

warning signs (e.g., worsening anemia, splenomegaly) and to how to avoid iron overload (p.74).
 McElroy 11

They believe that it was important that this type of system was very important to implement all

over south Asia in order to stop the problem of mortality from the disease. This type of program

should be considered over mandatory prenatal testing as it promotes the parents and child to live

a better life.

In Iran, where testing is mandatory but abortion is illegal, there has been a massive push

from the government to educate the population on thalassemia. Iran has an extensive education

program that is taught to the entire population in order to promote the well-being of those that

are born with the disease (Cousens, et. al. 2010). New treatment methods are also coming out

that could do a lot to help those with the disease and the disease is treatable.

Work Cited

Beauchamp, T. L., & Childress, J. F. (2001). Principles of biomedical ethics.

Beta thalassemia - Genetics Home Reference. (n.d.). Retrieved November 15, 2016, from
https://ghr.nlm.nih.gov/condition/beta-thalassemia

Doering, O. (1998). Eugenics and China: Where is the ethical problem? Retrieved November 15,
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Liao C, Mo Q, Li J, et al. Carrier screening for - and -thalassemia in pregnancy: the results of
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Mayo Clinic Staff Print. (n.d.). Thalassemia-Treatment. Retrieved November 13, 2016, from
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Rodgers, G. (1992). Yin and yang: The eugenic policies of the United States and China: Is the
analysis that black and white? Houston Journal International Law, 22(1), 129-168.
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Cousens, Nicole E., Clara L. Gaff, Sylvia A. Metcalfe, and Peter Harper. "Carrier Screening for
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Riewpaiboon, A., Nuchprayoon, I., Torcharus, K., Indaratna, K., Thavorncharoensap, M., &
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in Thai children. BMC Research Notes, 3, 29. http://doi.org/10.1186/1756-0500-3-29

Boulad, F., Rivire, I., & Sadelain, M. (2009). Gene Therapy for Homozygous -thalassemia. Is
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Chang-Gang L, Chun-Fu L, Qi L, Ming L. Thalassemia Incidence and Treatment in China with

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