Examples of Hereditary Diseases, Cystic Fibrosis, Thalassemia, Diabetes, Down Syndrome, Obesity, and its symptoms, causes and treatments for it.

1. HEREDITARYDISEASE

2. DEFINITIONOFHEREDITARYDISEASE
Hereditary Diseases - the passing, or capable passing of diseases naturally from parent to offspring through the genes
(Dictionary.com, 2014)
Caused by - chromosomal and gene mutations
The human body - contains two copies of gene which is one from each parent.
Question : What if a child inherits two genes that has a defect?
The child will develop an illness. This explains how a child with the disease can be born to parents that may not even have
the disease.
Examples of hereditary diseases - Down syndrome, sickle cell anemia, Turner syndrome and many more.

3. CYSTICFIBROSIS
 Also known as mucoviscidosis
 Hereditary disorder or a genetic condition that affects the exocrine
glands.
 Causes the production of abnormally thick sticky mucus that leads to
the blockage of pancreatic ducts, intestines which results in respiratory
infection
 Affects the cell that produces mucus, sweat and also digestive juices

4. CAUSES& SYMPTOMSOF CYSTICFIBROSIS
CAUSES
 A defect in the CFTR gene is the main reason that causes cystic fibrosis
. This gene makes a protein - controls the movement of salt and water in and out of our body's cells.
 People who have this disease, will have production of the thick, sticky mucus and very salty sweat.
SYMPTOMS
 Can be covered in two areas - the respiratory system and also the digestive system.
 Respiratory System - wheezing, repeated lung infections, inflamed nasal passages or a stuffy nose
and also a persistent cough that basically produces a thick mucus
 Digestive System - severe constipation, foul smelling or even grease stools plus even a poor gain in
weight

5. TREATMENTS
Antibiotics - to fight lung infections,
 Pulmozyme (DNase) - an enzyme usually inhaled through a nebulizer. Helps to
thin and break down the sticky mucus in the lungs.
 Patients – needs right kinds of nutrition that it is high in protein and fats.
 Children - 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.

6. OBESITY–DEFINITIONANDCAUSES
 A complex disorder involving an excessive amount of body fat
 It increases risk of diseases and health problems such as heart disease, diabetes and high
blood pressure.
Causes
 Inactivity – easily take in more calories every day when one has an active lifestyle. The need to
lose calories is through exercise and normal daily activities is crucial.
 Unhealthy diet and eating habits - weight gain will happen with regular consumption of more
calories than it being burned. Diets that are too high in calories and are full of fast food and
high-calorie beverages.

7. SYMPTOMS&TREATMENTS
Symptoms
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.
Treatments
 The best treatment is a balanced diet that should restrict on the calorie intake. Calorie-
restrictive diets fall into two basic categories.
Low calorie diets (LCDs) - 500 to 1,000 calories a day less than burned.
Very low calorie diets (VLCDs) - 400 to 800 calories a day and feature high-protein, low-fat
liquids.

8. TREATMENTS(cont…)
 Behaviour modification therapy - focuses on the goal of behavior modification therapy to
change the eating and exercise habits to promote weight loss.
 Setting realistic weight loss goals — short term and long term.
 Recording diet and exercise patterns in a diary.
 Identifying high-risk situations and avoiding them.
 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 focus on the goal

9. DIABETES
Diabetes - 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.

10. TYPE1DIABETES
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.

11. TYPE2DIABETES
Has a strong hereditary component.
Not all type 2 diabetes risk is genetic
Major risk factor for type 2 diabetes : obesity and sedentary lifestyle
Several gene mutations have been associated with type 2 diabetes risk
They interact with environment factors – toxins, viruses and foods
# type 2 diabetes is caused by both genetic and environmental factors.

12. TYPE2DIABETES–GENECTICMUTATIONS
Several gene mutations to a higher diabetes risk
Not everyone who carries a mutation will get diabetes, however, people with diabetes have
one or more of these mutations

13. TYPE2DIABETES–LIFESTYLE&FAMILY
INHERITANCE
Sedentary parents tend to have sedentary children.
Parents with unhealthy eating habits are likely to pass them on to the next generation
Genetics play a big part in determining weight

14. SYMPTOMS

15. TYPE2DIABETES–ACCURATEPREDATORS
Body mass index (BMI)
Family history
High blood pressure
Elevated triglycerides and cholesterol levels
History of gestational diabetes
Focusing on prevention

16. TYPE2DIABETES-PREVENTION
“Weight loss and increased physical activity can prevent or delay type 2 diabetes”

17. DOWNSYNDROME

18. DOWNSYNDROME
A common chromosomal abnormality that effects approximately 1 in 800 – 1000 newborns
(particularly in older expectant mother) (Fleet, 2015)
Result when extra copy of gene occurs on chromosomes 21
Genes on chromosome 21 that specifically contribute to the various symptoms of down
syndrome are now being identified

19. DOWNSYNDROMECAUSES
Trisomy 21 - 95 percent of the time 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 - 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
children have the usual two copies of chromosome 21, but they also have additional material
from chromosome 21 attached to the translocated chromosome.

20. DOWNSYNDROMESIGNS
People with down syndrome have distinct facial features:-
A flat face
A small broad nose
Abnormally shaped ears
 A large tongue
Upward-slanting eyes

21. DOWNSYNDROMEEFFECTS…..
People with Down syndrome have an increased risk of developing a number of medically
significant problems, including
-respiratory infections
-gastrointestinal tract obstruction (blocked digestive tract)
-Leukemia
-heart defects
-hearing loss
-Hypothyroidism
-eye abnormalities.

22. DOWN SYNDROME - TEST
Two types of tests check for Down syndrome during pregnancy:-
-Screening : Screening tests identify a mother who is likely carrying a baby with Down
syndrome. The most common screening tests are the Triple Screen and the Alpha-Fetoprotein
Plus. These tests measure levels of certain substances in the mother's blood
-Alternatively, ultrasounds (which use sound waves to look at the developing baby) allow the
doctor to examine the feotus in the womb for the physical signs of Down Syndrome

23. DOWNSYNDROME–TEST(CONT…)
Diagnostic tests : To confirm a positive screening result, one of the following diagnostic tests
can be performed:
 chorionic villus sampling (CVS)
 Amniocentesis
 percutaneous umbilical blood sampling (PUBS).
Each takes a sample from the placenta, amniotic fluid, or umbilical cord, respectively, to
examine the baby's chromosomes and determine if he or she has an extra chromosome 21.

24. thalassemia

25. WHATISTHALASSEMIA?
Thalassemia is a group of inherited blood disorders that affect the body's ability
to produce hemoglobin and red blood cells - patients have a lower-than-normal
number of red blood cells in their bodies and too little hemoglobin. In many
cases the red blood cells are too small.

26. TYPESOFTHALASSEMIA
Alpha Thalassemia
The alpha Thalassemia patient's hemoglobin does not produce enough alpha
protein.
Beta Thalassemia
We need two globin genes to make beta globin chains. We get one from each
parent. If one or two of these genes are faulty, it produces beta Thalassemia.

27. SYMPTOMSOFTHALASEMMIA
Jaundice
Fatigue
Pale skin
Cold hands and feet
Shortness of breath
Poor feeding
Delayed growth
Skeletal deformities - in some cases as the body tries to produce more bone marrow

28. TREATMENTFORTHALASSEMIA
Blood transfusions
Iron overload and Iron Chelation Therapy
Bone Marrow Transplant

29. CONCLUSION
To maintain a good lifestyle which involves good eating habits and also exercise to keep the body
fit

30. -Theend-