Hemophilia

1. Hemophilia • By:Veronica Jacobo, • Erica Maldonado, • Joseline Lopez

2. What do we know about the genetic disorder in general? • An illness caused by abnormalities in genes or in chromosomes. • It could sometimes be caused by environmental factors. • By some types of recessive gene disorders confer an advantage in the heterozygous. • Prevents blood from clotting properly.

3. In which context did here about genetic disorder? • We heard it in Biology class. • The website http://sites.google.com/site/bclhsgenetics/

4. Why did we choose this particular disorder? • Hemophilia is a rare inherited disorder, in which the blood doesn’t clot normally. • Hemophilia usually occurs in males but there are rare exceptions. • People may bleed for a long period of time. • People wake up not knowing what they have in their arm, leg, neck,etc.

5. What do we want to find out about the disease? • What are the symptoms in getting this disease? • How did it all start? • Why does it happen? • Can it be cured or does it stay for life?

6. How did it all start? • There is no certainty of how hemophilia originated, in the British royal lineage. The traditional view is that there was a mutation in either Victoria's genes or in the sperm of her father, Edward Augustus, Duke of Kent. Victoria

7. Victoria’s family tree

8. Why did this happen? • It's caused by a defect in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes.

9. Why it happens

10. Do we know anyone, friends, or family who is affected by this disorder? • Veronica’s side-No • Erica’s side-No • Joseline side-No

11. How does a child get the disorder? • A man and a women both have 23 pairs of chromosomes. The women have two X chromosomes; men have one X and one Y. Hemophilia is a X linked genetic disorder. Meaning it is passed on from mother to son on the X chromosome. But still the child has a 50% chance of having hemophilia.

12. What is the survival rate? Is it treatable? • Hemophilia isn’t cured(except by a liver transplant) although it can be managed. • 1,681 deaths per year. • 140 per month. • 32 per week. • 4 per day.

13. What is the treatment for hemophilia? • Recombinant factor VIII • Monoclonal factor VIII • Desmopressin • Aminocaprocic acid

14. Besides the symptoms, what can be done to diagnose the disorder. • Bleeding. • Bruising easily. • clotting difficulty. • They can use a new persons blood and place the blood into the person who has hemophilia and see how long it takes to clot.

15. If I was to do a pedigree analysis for three generations of the older ancestors of the parents of the child with genetic disorder how would it look like? • Figure 9.8B page 161

16. What biotechnological applications are currently being used in the fight against this disease? • The tools are being open to new research for discovering how healthy bodies work and what goes wrong when problems arise.

17. Disorder specialist Hemophilia is an inherited disorder in which there is inability to form an effective clot and hence causes prolonged bleeding in a patient. It is seen exclusively in males. A person with hemophilia does not bleed faster, only longer. Hemophilia affects approximately 1 in 5,000 live male births. There are two types of hemophilia - Hemophilia A and Hemophilia B. Hemophilia A results from deficiency or abnormality of factor VIII. Hemophilia B results from deficiency or abnormality of factor IX.

18. What is the type of disorder -gene or chromosomal? • The type of disorder is a Chromosome disorder. • Both are inherited as sex-linked recessive disorder as the genes responsible for factor VIII & IX are located on the X chromosome 5.

19. What the karyotype of this disorder looks like? • The gene for hemophilia is 186,000 base pairs, and has 26 exons separated by 25 introns. • Happening in Chromosome five.

20. What are the signs and symptoms of thdisorder including a detailed description of how it affects the human body? • Some symptoms of Hemophilia are: • Bleeding into a joint or muscle that causes pain and swelling. • Abnormal bleeding after an injury or surgery. • Easy bruising. • Frequent nosebleeds. • Blood in the urine (hematuria). • Bleeding after dental work

21. What different tests could have been provided to the parent to have found out about this disorder before its birth? • Human factor VIII concentrates - They are plasma -derived Factor VIII concentrates made from pooled plasma from thousands of donors. • Recombinant Factor VIII concentrates - They are made by recombinant technique and also contain albumin. • Porcine Factor VIII concentrates - They are used in patients with inhibitors of Human Factor VIII. They do not transmit Hepatitis or HIV. Recipients may have occasional allergic reactions.

22. Whatother names or abbreviations are used for the disorder? • Hemophilia A: • Classic hemophilia • Factor VIII deficiency • Hemophilia B : • Christmas disease • Factor IX deficiency

23. What kind of lifestyle your child will have with this disorder (hemophilia)? • My child would have pain when walking. He/she would have to take medicine for the pain especially before or after doing         simple sports. He/she would have to be careful not to get injured. He/she will not be able to do many things like other people because there are some things that can hurt him/her and make him/her bleed. He/she will have to learn how to inject him/her self the missing clotting factor. He/she would have to go to a hemophilia treatmentcenter. My child can get disabling arthritis at any time and live with it for the rest of his/her life.

24. How long will my child live? • My child will live almost normal with effective treatment, but if repeated bleeding incidents happen, it will cause my child to have disabling arthritis in the joints. If my child gets disabling arthritis he/she will have pain and reduced motion in the joints because frequent bleeding incidents cause the synovium (a thin lining inside the joint capsule) to absorb the blood lost from the vessels and the synovium will stay swollen. Eventually the cartilage will be eaten away by the enzymes from the swollen synovium, which causes the bones to grind against each other. The bones grinding against each other causes the pain and reduced movement to the joints.

25. f your child with the disorder will be able to have children of his/her own and if his/her children will be affected? • My child with the disorder is able to have children • If only my child is the carrier- 50% chance that his/her children will be affected. • If both of them are carriers- 75% chance that his/her children will be affected.

26. If you were to have more children, what is the probability that another child will be affected by the same disorder? • If we both are carriers -75% chance that another child will be affected by the same disorder. • If we both are carriers -75% chance that another child will be affected by the same disorder.

27. Resources • http://www.ygyh.org/hemo/whatisit.htm • http://www.nlm.nih.gov/medlineplus/hemophilia.htm • http://www.dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/ • http://www.wrongdiagnosis.com/m/marfan_syndrome/treatments.htm • THANK YOU(: