1. Genetic Diseases (1)Sickle-cell anaemia 鐮刀形紅血球貧血症

2. Introduction of Sickle-cell anaemia w It is a genetic diseases w the patient’s red blood cells are rigid & sickle in shape w common disaeses in African w two copies of the haemoglobin gene in every cell of our body w a recessive condition because they have two copies of the sickle haemoglobin gene to have the disorder.

3. Problems of Sickle-cell anaemia w Less oxygen are be carried w these sickle cell are weak and have shorter life span w lead to small blood vessels getting blocked w lead to severe pain and damage to organs w such as liver, kidney, lungs, heart and spleen. Death can be a result.

4. Explaination of blocking blood vessels

5. The Genetic Combination w (1)Sickle Cell Trait and Unaffected w none of the children will have sickle cell anaemia. w a one in two (50%) chance that any given child will get one copy of the HbS gene and therefore have the sickle cell trait.

6. The Genetic Combination w (2) Sickle Cell Trait and Sickle Cell Trait w (25%) chance that any given child could be born with sickle cell anaemia. w (25%)chance that any given child could be completely unaffected

7. The Genetic Combination w (3) Sickle Cell Trait and Sickle Cell Anaemia w a one in two (50%) chance that any given child will get sickle cell trait and a one in two chance that any given child will get sickle cell anaemia.

8. The Genetic Combination w (4)Sickle Cell Anaemia and Unaffected w all the children will have sickle cell trait. w None will have sickle cell anaemia.

9. Genetic Diseases (2) Haemophilia 血友病

10. Introduction of Haemophilia w a lifelong inherited genetic disease w Haemophilia (Greek)=“love of blood” w Hemorrhaephilia=“The love of hemorrhage” w (hemorrhage=bleeding) w an essential clotting factor is either partly or completely missing w causes a patient to bleed for longer than normal.

11. Threes types of Haemophilia w Haemophilia A (80%) w lacks clotting factor 8 w Haemophilia B(20%) w lacks clotting factor 9 w Haemophilia C w lacks clotting factor 11

12. Why Haemophilia patient bleeding seriously w For blood clotting, w 13 clotting factors (protein),must be all present,blood can’t clot,even lack of one.

13. Levels of Haemophilia w First level of Haemophilia w 5%~30% of clotting factors in blood w only get problem when serious injury or during operation.

14. (Cont’d)Levels of Haemophilia w Second level of Haemophilia w 1%~5% clotting factors in blood w regular bleeding(spontaneous) w Third level of Haemophilia (severe) w <1% clotting factors in blood w bleeds cause acute pain and severe joint damage leading to disability

15. Causes of Haemophilia w Inheritance w the problem gene(production of clotting factors) is in X chromosome w Most patients are Male w because they only got one X- chromosome

16. Causes of Haemophilia

17. w Acquired Haemophilia w not born with haemophilia develop antibodies against one of the clotting factors such as factor 8 w Pregnancy and autoimmune diseases such as rheumatoid arthritis and cancer may increase the risk of developing it(antibodies)

18. Treatments of Haemophilia w replacement of the missing clotting factor. w injecting it on a regular basis (called prophylaxis) to help prevent bleeding (Regular treatment ) w injecting at the time a bleed occurs (called on-demand therapy) w no permanent way of replacing or increasing the clotting factor level.

19. Genetic Diseases (3)G-6-P dehydrogenase Deficiency 葡萄糖 -6- 磷酸鹽去氫酉每缺乏症

20. Introduction of G-6-P Deficiency w glucose-6-phosphate dehydrogenase deficiency (favism) w is a hereditary abnormality in the activity of an erythrocyte (red blood cell) enzyme w lead to hemolytic anemia with jaundice following the intake of fava beans, certain legumes and various drugs

21. Inheritance of G-6-P Deficiency

22. Inheritance of G-6-P deficiency w The defect is sex-linked, transmitted from mother (usually a healthy carrier) to son (or daughter, who would be a healthy carrier. This is due to the fact that the structure of G-6-PD is carried on the X chromosome

23. Symptoms of G-6-P Deficiency w hemolytic anemia:feel tired, short of breath, have an irregular heart beat, and may have a dark orange urine. w This enzyme is essential for assuring a normal life span for red blood cells, and for oxidizing processes. This enzyme deficiency may provoke the sudden destruction of red blood cells and lead to hemolytic anemia with jaundice

24. Treatment of G-6-P deficiency w Avoid taking fava beans, certain legumes and various drugs e.g. Chloramphenicol w Blood transfusions when crisis appear

25. Conclusion w For the above three genetic diseases w There is no cure for them w thus to avoid these disease w Genetic test should be done before marriage