Essay for Hereditary diseases found commonly in Asia.

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HEREDITARY DISEASES
INTRODUCTION
In today’s world, there are many times of new diseases that are developing and are being
discovered almost everyday. Some of these diseases out there can be classified as hereditary
diseases.
Hereditary diseases can be defined as the passing, or capable of passing of diseases naturally
from parent to offspring through the genes (Dictionary.com, 2014)). Hereditary diseases are
mainly caused by chromosomal and gene mutations. This is because every person is created or
develops a mix of genes that is basically inherited from his or her mother and father. These genes
or even any small parts of chromosomes, determines the structure and activity of the entire body.
The genes is the key that determines visible characteristics, such as eye colour, skin colour,
height and also traits that cannot be seen such as the chance of inheriting certain diseases, the
chemicals that are produced by the body and the functioning of body systems.
Normally in the human body, each cell contains two copies of gene and each one of these gene is
basically from the egg of the mother and one from the sperm of the father. In many instances,
these two copies are slightly different from each other. The result is a child will have some
characteristics from the mother and some from the father that is never identical to either of the
parent.
Since there are two types of genes, a gene that is working normally usually can make up for the
other gene that has a defect. For example, a gene with a defect can cause a particular disease to
be passed through generations of a family without causing any illness. However, if a child
inherits the two genes that has the defect, then the child basically will develop the illness. This
explains how a child with the disease can be born to parents that may not even have the disease.
Some examples of hereditary diseases are hereditary hemochromatosis, Down syndrome, sickle
cell anemia, Turner syndrome and many more.

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TYPES OF HEREDITARY DISEASES
CYSTIC FIBROSIS
The first type of hereditary disease is known as cystic fibrosis or also known as mucoviscidosis.
It’s a hereditary disorder or a genetic condition that affects the exocrine glands. It causes the
production of abnormally thick sticky mucus that leads to the blockage of the pancreatic ducts,
intestines and often resulting in respiratory infection.
This disease normally affects the cell that produces mucus, sweat and also digestive juices. The
secreted fluids are normally thin and slippery in ordinary people. However, people with cystic
fibrosis will have a defective gene that causes the secretions to become thick and sticky. Instead
of acting as a lubricant, the secretions plug up tubes, ducts and passageways especially in the
lungs and pancreas.
As it can be seen so far that this disease is referred to a defective gene which is the main cause of
this disease. A defect in the CFTR gene is the main reason that causes cystic fibrosis. This gene
basically makes a protein that controls the movement of salt and water in and out of our body's
cells. In people who have this disease, the gene makes a protein that basically doesn't work. The
end result is what that is known which is the production of the thick, sticky mucus and very salty
sweat.
The symptoms for this disease will vary according to each individual that has it and there are
also cases where the individual will not experience any symptoms until much older. The
symptoms for this disease can be seen under two areas that is under the respiratory systems and
also the digestive system. As for the respiratory system this disease basically relates to symptoms
like wheezing, repeated lung infections, inflamed nasal passages or a stuffy nose and also a
persistent cough that basically produces a thick mucus, Under the area of digestive systems, the
symptoms like severe constipation, foul smelling or even grease stools plus even a poor gain in
weight are some of the sign to look out for.

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There are no real cure for this disease. People who are having this disease will be given many
times of treatment to basically help the person to live better. Some of the types of treatment that
is used includes antibiotics that is used to fight lung infections, Pulmozyme (DNase) that is an
enzyme usually inhaled through a nebulizer that will help to thin and break down the sticky
mucus in the lungs so it is easier to cough up. Patients with these type of disease will also be
required to get annual flu jab as they stand a greater in getting infections. Besides that, patients
will also be advised to get the right kinds of nutrition which helps to fight any developing
infections. The diet should be something that it is high in protein and also rich in protein and fats.
Children with this disease should eat a varied diet, with a large amount of protein and calories
which includes meals like meat, fish and eggs, as well as starchy foods like bread and pasta. If a
child's appetite is poor, then food should be given them little and often.
DOWN SYNDROME
Down syndrome is a genetic disorder that is caused when abnormal cell division results in extra
genetic material from chromosome 21. This genetic disorder varies in severity, which causes
lifelong intellectual disability and developmental delays. For some people it even causes health
problems. Down syndrome is the most common genetic chromosomal disorder and that causes
learning disabilities in children.
Below are the causes of Down syndrome. Any one of three genetic variations can cause this
disease:
 Trisomy 21 - 95 percent of the time, Down syndrome is caused by trisomy 21 — the child
has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is
caused by abnormal cell division during the development of the sperm cell or the egg cell.
 Mosaic Down syndrome - In this rare form of Down syndrome, children have some cells
with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused
by abnormal cell division after fertilization.
 Translocation Down syndrome - Down syndrome can also occur when part of chromosome
21 becomes attached (translocated) onto another chromosome, before or at conception. These

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children have the usual two copies of chromosome 21, but they also have additional material
from chromosome 21 attached to the translocated chromosome.
Most of the time this disease is not inherited but is caused by a mistake in cell division during the
development of the egg, sperm or embryo. Translocation Down syndrome is the only form of the
disorder that can be passed from parent to child. However, only about 4 percent of children with
Down syndrome have translocation. And only about one-third of these children inherited it from
one of their parents.
Children with Down syndrome have a distinct facial appearance. Although, not all children with
Down syndrome have the same features, some of the more common features are flattened facial
features, small head, short neck, protruding tongue, unusually shaped or small ears, poor muscle
tone and many more. Infants with Down Syndrome may be average size and their growth
development is slow and they remain shorter than other children the same age. In general, the
developmental milestones such as sitting and crawling occur at about twice the age of children
without impairment.
There is no one single or standard treatment for Down syndrome. Treatments are based on each
individual's physical and intellectual needs as well as personal strengths and
limitations.1 Children, teens, and adults with Down syndrome also need the same regular medical
care as those without the condition, from well-baby visits and routine vaccinations as infants to
reproductive counseling and cardiovascular care later in life. Like other people, they also benefit
from regular physical activity and social activities.
“Early intervention” refers to a range of specialized programs and resources that professionals
provide to very young children with Down syndrome and their families. These professionals may
include special educators, speech therapists, occupational therapists, physical therapists, and
social workers.

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A variety of therapies can be used in early intervention programs and throughout a person's life
to promote the greatest possible development, independence, and productivity. Please refer to the
following listed below.
 Physical therapy includes activities and exercises that help build motor skills, increase
muscle strength, and improve posture and balance.
o Physical therapy is important, especially early in a child's life, because physical
abilities lay the foundation for other skills. The ability to turn over, crawl, and
reach helps infants learn about the world around them and how to interact with it.
o A physical therapist also can help a child with Down syndrome compensate for
physical challenges, such as low muscle tone, in ways that avoid long-term
problems. For example, a physical therapist might help a child establish an
efficient walking pattern, rather than one that might lead to foot pain.6
 Speech-language therapy can help children with Down syndrome improve their
communication skills and use language more effectively.
o Children with Down syndrome often learn to speak later than their peers. A
speech-language therapist can help them develop the early skills necessary for
communication, such as imitating sounds. The therapist also may help an infant
breastfeed because breastfeeding can strengthen muscles that are used for speech.5
o In many cases, children with Down syndrome understand language and want to
communicate before they can speak. A speech-language therapist can help a child
use alternate means of communication, such as sign language and pictures, until
he or she learns to speak.

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ASTHMA
Asthma is a condition in which your airways narrow and swell and produce extra mucus. This
can make breathing difficult and trigger coughing, wheezing and shortness of breath.
Exposure to various irritants and substances that trigger allergies (allergens) can trigger signs and
symptoms of asthma. Asthma triggers are different from person to person and can include:
 Airborne allergens, such as pollen, animal dander, mold, cockroaches and dust mites
 Respiratory infections, such as the common cold
 Cold air
 Air pollutants and irritants, such as smoke
 Certain medications, including beta blockers, aspirin, ibuprofen (Advil, Motrin IB, others)
and naproxen (Aleve)
 Strong emotions and stress
 Gastroesophageal reflux disease (GERD), a condition in which stomach acids back up into
your throat
Asthma signs and symptoms include:
 Shortness of breath
 Chest tightness or pain
 Trouble sleeping caused by shortness of breath, coughing or wheezing
 A whistling or wheezing sound when exhaling (wheezing is a common sign of asthma in
children)
 Coughing or wheezing attacks that are worsened by a respiratory virus, such as a cold or the
flu

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These types of treatment medications helps to keep asthma under control. They include long-
term control medications such as:-
 Inhaled corticosteroids. These anti-inflammatory drugs include fluticasone (Flonase,
Flovent HFA), budesonide (Pulmicort Flexhaler, Rhinocort), flunisolide (Aerospan HFA),
ciclesonide (Alvesco, Omnaris, Zetonna), beclomethasone (Qnasl, Qvar), mometasone
(Asmanex) and fluticasone furoate (Arnuity Ellipta).
 Leukotriene modifiers. These oral medications — including montelukast (Singulair),
zafirlukast (Accolate) and zileuton (Zyflo) — help relieve asthma symptoms for up to 24
hours.
 Long-acting beta agonists. These inhaled medications, which include salmeterol (Serevent)
and formoterol (Foradil, Perforomist), open the airways.
 Combination inhalers. These medications — such as fluticasone-salmeterol (Advair
Diskus), budesonide-formoterol (Symbicort) and formoterol-mometasone (Dulera) —
contain a long-acting beta agonist along with a corticosteroid.

 Theophylline. Theophylline (Theo-24, Elixophyllin, others) is a daily pill that helps keep the
airways open (bronchodilator) by relaxing the muscles around the airways. It's not used as
often now as in past years.

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DIABETES
Diabetes mellitus refers to a group of diseases that affect how the body uses blood sugar
(glucose). Glucose is vital to health because it's an important source of energy for the cells that
make up muscles and tissues.
Chronic diabetes conditions include type 1 diabetes and type 2 diabetes. Potentially reversible
diabetes conditions include prediabetes — that is when the blood sugar levels are higher than
normal, but not high enough to be classified as diabetes — and gestational diabetes, which
occurs during pregnancy but may resolve after the baby is delivered.
The exact cause of type 1 diabetes is unknown. Type 1 is basically thought to be caused by a
combination of genetic susceptibility and environmental factors, though exactly what many of
those factors are is still unclear.
In prediabetes which can lead to type 2 diabetes, the cells in the body will become resistant to the
action of insulin making the pancreas unable to produce enough insulin to overcome any possible
resistance. The cause of this type of diabetes could be genetic and environmental factors and also
being overweight.
Some of the signs and symptoms of type 1 and type 2 diabetes are:
 Increased thirst
 Frequent urination
 Extreme hunger
 Unexplained weight loss
 Presence of ketones in the urine (ketones are a byproduct of the breakdown of muscle and fat
that happens when there's not enough available insulin)
 Fatigue
 Irritability
 Blurred vision
 Slow-healing sores
 Frequent infections, such as gums or skin infections and vaginal infections

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The treatment for this two types of diabetes is basically to control the blood sugar (glucose)
levels within the normal range, with minimal excursions to low or high levels.
Type 1 diabetes (T1D) is treated with:
 insulin,
 exercise, and a
 diabetic diet.
Type 2 diabetes (T2D) is treated:
 First with weight reduction, a diabetic diet, and exercise
 Oral medications are prescribed when these measures fail to control the elevated blood
sugars of type 2 diabetes.
 If oral medications become ineffective treatment with insulin is initiated.

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OBESITY
Obesity is a complex disorder involving an excessive amount of body fat. Obesity isn't just a
cosmetic concern. It increases your risk of diseases and health problems, such as heart disease,
diabetes and high blood pressure.
The causes of obesity are:
 Inactivity – An individual can easily take in more calories every day when they don’t have
an active lifestyle. The need to lose calories is through exercise and normal daily activities.
 Unhealthy diet and eating habits - Weight gain will happen if an individual regularly eat
more calories than it being burned. Diets that are too high in calories and are full of fast food
and high-calorie beverages.
The symptoms for obesity or it can basically diagnosed when the body mass index (BMI) is 30
or higher. The body mass index is calculated by dividing weight in kilograms (kg) by height in
meters (m) squared. BMI will normally provide a reasonable estimate of body fat.
The best treatment for this disease should be a balanced diet that should restrict on the calorie
intake. Calorie-restrictive diets fall into two basic categories.
 Low calorie diets (LCDs) are individually planned to include 500 to 1,000 calories a day
less than burned.
 Very low calorie diets (VLCDs) typically limit intake to only 400 to 800 calories a day
and feature high-protein, low-fat liquids.
The other method to treat this is through behaviour modification therapy which focuses on
the goal of behavior modification therapy to change the eating and exercise habits to promote
weight loss. Please refer to the following example:-
 Setting realistic weight loss goals — short term and long term.
 Recording your diet and exercise patterns in a diary.
 Identifying high-risk situations and avoiding them.

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 Rewarding specific actions, such as exercising for a longer time or eating less of a certain
type of food.
 Adopting realistic beliefs about weight loss and body image.
 Developing a support network, including family, friends and co-workers, or joining a
support group that can help you focus on your goal.
CONCLUSION
It is vital to maintain a healthy and diet that is full of nutrition and also have a good exercise
regime to keep away from major diseases. With so many types of diseases that are being
discovered everyday, precautionary measures must be taken to keep and stay a step ahead.

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REFERENCE
Anon.,n.d.[Online]
Available at:www.dictionary.com
Anon.,n.d.[Online]
Available at:http://www.humanillnesses.com/original/Gas-Hep/Genetic-Diseases.html
Anon.,n.d.[Online]
Available at:http://www.mayoclinic.org/diseases-conditions/obesity/basics/symptoms/con-20014834
Anon.,n.d.[Online]
Available at:https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx
Anon.,n.d.[Online]
Available at:http://www.nhs.uk/Conditions/Cystic-fibrosis/Pages/Treatment.aspx
Anon.,n.d.[Online]
Available at:http://www.nhs.uk/Conditions/Cystic-fibrosis/Pages/Treatment.aspx
Anon.,n.d.[Online]
Available at:http://www.medicinenet.com/cystic_fibrosis/page3.htm
Anon.,n.d.[Online]
Available at:http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/causes/con-