Hereditary Diseases

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

1. HEREDITARY DISEASE

2. DEFINITION OF HEREDITARY DISEASE Hereditary D iseases - 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. E xamples of hereditary diseases - Down syndrome, sickle cell anemia, Turner syndrome and many more.

3. CYSTIC FIBROSIS Also known as mucoviscidosis H ereditary 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 & SYMPTOMS OF CYSTIC FIBROSIS 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 A ntibiotics - 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 – DEFINITION AND CAUSES 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. TYPE 1 DIABETES 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. TYPE 2 DIABETES 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. TYPE 2 DIABETES – GENECTIC MUTATIONS 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. TYPE 2 DIABETES – 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. TYPE 2 DIABETES – ACCURATE PREDATORS Body mass index (BMI) Family history High blood pressure Elevated triglycerides and cholesterol levels History of gestational diabetes Focusing on prevention

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

17. DOWN SYNDROME

18. DOWN SYNDROME 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. DOWN SYNDROME CAUSES 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 - R are 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. DOWN SYNDROME SIGNS 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. DOWN SYNDROME EFFECTS….. 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 S yndrome

23. DOWN SYNDROME – 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. WHAT IS THALASSEMIA? 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. TYPES OF THALASSEMIA 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. SYMPTOMS OF THALASEMMIA 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. TREATMENT FOR THALASSEMIA 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. - The end -