Hemophilia: A Rare Bleeding Disorder Briza Ramirez St. Pius X – St. Matthias Academy General Biology, Period 5 Ms. Washington Hemophilia: A Rare Bleeding Disorder Hemophilia is a rare bleeding disorder that slows the blood clotting process, which is not normal. Some people with Hemophilia may just have a little bit of “clotting factor” or no clotting factor at all (National Institute of Health [NIH], 2013). Clotting factor is a protein in blood that controls bleeding and they are needed the blood to clot normally. In order to help the blood clot, clotting factors work with “platelets” (National Institute of Health [NIH], 2013). Platelets are small blood cell fragments that form in the bone marrow, a tissue in the bones that is similar to a sponge.
Hemophilia A is due to the individual producing low levels of clotting factor VIII while Hemophilia B is due to the individual producing low levels of clotting factor IX. Clotting factors are proteins which interact with platelets so that clots can be formed. Clotting factors allow the platelets to clump together to seal cuts and tears in blood vessels to prevent excessive bleeding. Hemophilia can be mild moderate or severe depending on the amount of clotting factor in the blood. Individuals with mild Hemophilia have 6% to 49% of the normal amount of clotting factor.
Part of the lymphatic system, the spleen is composed of two types of tissue. White pulp produces lymphocytes, which release antibodies into the bloodstream to combat infection. More prominent is the red pulp, in which macrophages filter broken cells, parasites, bile pigments, and other useless substances from the blood. Iron from broken red blood cells is stored in the spleen for later use. Despite this variety of functions, an injured or diseased spleen can be removed in adults without great consequence.
Hemophilia B’s IX is in the F9 gene which is located on xq27.1-27.2. Hemophilia C’s XI gene is located on 4q35. (Genetics Home Reference) When most people get a cut, it heals naturally and isn’t a big deal, but hemophiliacs are the exact opposite. Their blood lacks the adequate ability to clot because they are missing either the VIII, IX, or XI clotting factor. The first step in the clotting process is for platelets to go to the wound and plug up the hole.
Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood.
In order to give the correct treatment, you need to find out which factor is the defective one and then any treatment procedures can begin. There have been very rare cases in which both haemophilia A and haemophilia B affect only males. Von-Willebrand's syndrome is a third condition and it is a mix of factor VIII with platelets that do not function properly which affects both males and females. In a person who has haemophilia, how severe the haemophilia is, dependant on the amount of clotting factors in the blood. Prevalence of disease There are two common forms of haemophilia which are much more common in males than females.
Science Disease Project Hemophilia is a rare disease where blood doesn't clot normally. This is because clotting factor (a protein that works with platelets to clot blood) is little to nonexistent. Another from of hemophilia is when platelets themselves are destroyed when antibodies form against them. I have chosen to focus on hemophilia that is related to problems in clotting factors, as opposed to platelets. It affects the circulatory system because it causes a person to bleed longer than others after injury, externally or internally.
There are two main types of hemophilia: A and B. People born with type A are missing or have low levels of clotting factor VIII (1 in 5 000 males). People born with type B are missing or have low levels of clotting factor IX (1 in 20 000 males). About 8 out of 10 people who have hemophillia have type A. The greatest concern for both types is deep internal bleeding and bleeding into joints.
In this case, body make both sickle hemoglobin and normal hemoglobin, so they usually have few, if any, symptoms. However, in some cases even sickle cell trait may have medical complications. Persons with sickle cell trait can also pass the sickle hemoglobin gene to their children. Affected HbS gene changes the beta chain of the hemoglobin molecule, which results in poor oxygen transport and hypoxemia. Because HbS crystallizes, clutters of rod like structure deform the erythrocyte into a sickle or crescent shape (Edwards et al., 2009).
PNH also damages platelets (thrombocytes) interfering with the ability to form blood clots, because of th... ... middle of paper ... ...destroys PNH by transplanting healthy marrow (most often from a relative) into the patient. There is a VERY high mortality rate with this cure so generally it is reserved for patients who suffer from PNH along with another disease such as leukemia, aplastic anemia, or myelodysplastic syndrome and all other treatment options are no longer enough. Works Cited http://www.ncbi.nlm.nih.gov/books/NBK22166/ http://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria http://www.nlm.nih.gov/medlineplus/ency/article/003642.htm http://www.nlm.nih.gov/medlineplus/ency/article/000534.htm http://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria#Treatment http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=7337 http://bloodjournal.hematologylibrary.org/content/113/26/6522.full http://www.haematologica.org/cgi/content/full/95/6/855