Hemophilia by EDEN NESLER https://padlet.com/edennesler2026/ckb35xsaxnunj8jf research project en-us 2021-01-31 18:33:01 UTC 2025-01-31 23:57:58 UTC hello@padlet.com https://padlet.net/icons/png/1f9ec.png 1~What phenotypes does the genetic disorder show (appearance)? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146037548 Bleeding into the joints is the main phenotype. This can cause swelling and pain or tightness in the joints. Also, this can cause internal bleeding, which leads to bruising. It often affects the knees, elbows, and ankles. ]]> 2021-01-31 18:37:14 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146037548 2~What other organ systems are affected and how? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146045555 The immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins. This is known as inhibitors, that inactivate the clotting factors.

The main difference between A and B is, they need injections to replace different clotting factors. In hemophilia A, factor VIII (8) is missing. In hemophilia B, it is factor IX (9) is missing. If unmanaged, this disease can be fatal. Therefore it should be taken very seriously. With proper care, most people can lead normal lives. Also, the severity of hemophilia that a person has is determined by a number of factors in their blood.

The following are clotting factors and their common names:
  • Factor I - fibrinogen.
  • Factor II - prothrombin.
  • Factor III - tissue thromboplastin (tissue factor)
  • Factor IV - ionized calcium ( Ca++ )
  • Factor V - labile factor or proaccelerin.
  • Factor VI - unassigned.
  • Factor VII - stable factor or proconvertin.

]]> 2021-01-31 18:41:27 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146045555 3~Determine the cause of the disorder: genetic or hereditary. edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146063427 Hemophilia is caused by a genetic mutation. The mutations involve genes that code for proteins that are essential in the blood clotting process. The bleeding symptoms happen because the blood clotting is damaged. ]]> 2021-01-31 18:50:11 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146063427 4~What type of mutation causes this genetic disorder? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146071960 Hemophilia is inherited in an X-linked recessive pattern. A condition is considered X-linked when the gene mutation that causes it is located on the X chromosome, one of the two sex chromosomes. In males, who have only one X chromosome. One altered copy of the gene in each cell is enough to cause this condition.  

]]> 2021-01-31 18:54:23 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146071960 5~What is the rate of occurrence with the genetic disorder? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146086180 In the United States, Hemophilia A affects 1 in 5,000 male births. About 400 babies are born with hemophilia A each year. 

]]> 2021-01-31 19:01:47 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146086180 6~What famous (or well known) people have the disorder? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146097624 Famous people with hemophilia include Queen Victoria, Ryan Wayne White, Richard Burton and Alexandra Borstein.]]> 2021-01-31 19:07:35 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146097624 7~What medical treatment is currently available? edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146105080 The main treatment for hemophilia is called replacement therapy. The clotting factor for hemophilia A or clotting factor IX (for hemophilia B) is dripped or injected into a vein. This helps replace the clotting factor that is missing or low. ]]> 2021-01-31 19:11:33 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1146105080 edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1156005147 2021-02-02 20:58:07 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1156005147 edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1156051246 2021-02-02 21:11:25 UTC https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1156051246 bibliography edennesler2026 https://padlet.com/edennesler2026/ckb35xsaxnunj8jf/wish/1159496014 Works Cited
https://hemophilianewstoday.com/2017/08/24/six-famous-people-with-hemophilia/
https://hemophilianewstoday.com/what-causes-hemophilia/
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1538-7836.2007.02503.x
https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327#:~:text=In%20some%20people%20with%20severe,factors%2C%20making%20treatment%20less%20effective
https://www.ajmc.com/view/prevalence-of-hemophilia-worldwide-is-triple-that-of-previous-estimates-new-study-says-

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