Patient InformationName: Matthew Smith AndersonGender: MaleDate of Birth: 1996/03/28Medical Condition: Severe Hemophilia AGeneral Information Hemophilia is an inherited, life-threatening condition in which the blood is not able to clot normally. In other words, it is a bleeding disorder that slows down the blood clotting process and causes the affected person to bleed uncontrollably after an injury.
Hemophilia is a rare blood disorder that is caused by insufficient clotting proteins in the blood. As a result, a person with hemophilia bleeds for a long period of time and is at risk of dying from internal bleeding that may occur as a result of a simple, minor injury. Hemophilia is more common in males than females since it is a sex-linked trait. Causes and Patterns of InheritanceHemophilia A and hemophilia B are inherited in an X-linked recessive pattern. This disorder is caused due to a defect in one of the genes that are located on the X chromosomes, which is one of the two sex chromosomes in humans. Males have only one X chromosome, therefore one changed copy of the gene in each cell is sufficient to cause this disorder.
Whereas females have two X chromosomes, therefore a mutation would need to occur in both copies of the gene in order to cause this condition. A female with only one changed copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of clotting factor VIII or IX, which is usually enough for normal blood clotting meaning that they are not affected by hemophilia. Females rarely have hemophilia as it is very unlikely for females to have two changed copies of this gene.Types of HemophiliaThere are four types of Hemophilia that exist which are all caused by different missing clotting proteins in the blood known as factors. Clotting factors are proteins that are found in the bloodstream. The main function of these proteins is to work along with platelets in order to stop or control bleeding in humans. The first one and most common one that affects nearly 80% of humans is Hemophilia A, which is an X-linked recessive inheritance caused by a deficiency of factor VIII (8).
The second is less common but still manages to affect around 20% of humans is known as Hemophilia B, which is also an X-linked recessive inheritance but it is caused by a deficiency of factor IX (9). The last two rarest types of Hemophilia that are autosomal recessive inheritances are known as Hemophilia C, which is caused by a deficiency of factor XI (11) and Parahemophilia, which is caused by a deficiency of factor V (5). Most human beings are affected by either Hemophilia A or Hemophilia B, which are both sex-linked inheritances. Whereas, autosomal recessive inheritances such as Hemophilia C or Parahemophilia are the rarest types of inheritance for hemophiliacs.Autosomal Recessive InheritanceBoth parents of the affected individual must be heterozygousThe affected individual may not appear in every generation so the trait could skip some generations Males and females are affected in equallyX-linked Recessive InheritanceNO father-to-son transmission Males are mostly affected versus. females who are rarely affectedThe trait does skip generationsGeneral Medical History of Patient21 years old Matthew Smith Anderson suffers from a severe case of Hemophilia A disorder that has been passed on from his mother and her ancestors onto him. However, Matthew is not the only person in his family who suffers from this disorder.
Many of his family members suffer from this condition. His father did not suffer from this condition, but however, his mother was a carrier of this disorder. Therefore, he got the gene passed on from his mother when he was born.
He has 3 siblings in total, out of which 2 are females (Jenny and Emily) and 1 is a male (Jacob). Jenny is a carrier of Hemophilia A just like her mother. However, Emily and Jacob both do not carry any genes for this disorder.Current SymptomsSome of the many symptoms of hemophilia visible in the patient were: Blood in the urine due to bleeding in the bladder or kidneysBlood in the stool due to bleeding in the stomach or intestines Prolonged bleeding caused from cuts, injuries, tooth extractions and surgeriesNosebleeds without a specific reasonHeavy bleeding caused from a minor cutDiagnostic Tests and ProceduresIn order to diagnose the patient, various tests were conducted on him including four different types of screening tests, which are blood tests that basically show whether the blood in a person is clotting properly or not. The four types of screening tests used to diagnose hemophilia included:Complete Blood Count (CBC) TestThis test was used to measure the amount of hemoglobin, the size and number of RBC and numbers of different types of WBC and platelets found in the blood of the patient. In this case, the patient showed a significantly low level of hemoglobin and the RBC.Activated Partial Thromboplastin Time (APTT) TestThis test was used to measure the time that it took for the patient’s blood to clot and the clotting ability of the clotting factors in his blood.
The results of the patient showed a significantly longer clotting time compare to other hemophiliacs with mild Hemophilia A or B, which showed that that the patient must have a severe type of Hemophilia and he must suffer from a very low level of clotting protein in his bloodstream.Clotting Factor TestThis test was used to determine the type of Hemophilia the patient may have and the severity of that type of Hemophilia. In this case, it was found that the patient suffered from severe hemophilia A.
Treatment and Prognosis (probable outcome)Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in an affected person’s blood. In this case, Matthew suffers from a severe type of Hemophilia, therefore it is very important for him to go through a treatment. With appropriate treatment, people with hemophilia such as Matthew are able to live for the rest of their lives. Early treatment have dramatically improved the long-term outlook (prognosis) for people suffering from Hemophilia A.Hemophilia can be treated by blood transfusion, which is a process in which blood is received from a donor to replace the missing clotting factor in the blood of a recipient. Matthew has an extremely low level or is completely missing a clotting protein in his blood known as factor VIII therefore, he could simply be treated with injections of this substance.Replacement TherapyReplacement Therapy is the main treatment for Hemophilia.
In this case, since the patient suffers from hemophilia A, concentrates of clotting factor VIII will slowly be injected into his veins, which will help to replace the missing or very low clotting factor in him. ***It is important to keep in mind that some complications may occur during this treatment. There is a possibility that antibodies that will attack the clotting factor may be developed along the way of this procedure.***Antifibrinolytic MedicinesMost of the time, antifibrinolytic medicines are given in the form of a pill to patients and they can be used along with the replacement therapy. These medicines will basically help keep blood clots from breaking down in the patient’s body. These medicines are mostly used before any type of dental work or even to treat bleeding that could occur inside of the mouth, nose or intestines.How to know which treatment is best suited for the patient?The type of treatment a patient must receive depends highly on the severity of the hemophilia.
In this case, the patient must follow the Replacement Therapy, as he suffers from severe hemophilia along with Antifibrinolytic Medicines.For patients suffering from severe hemophilia such as Matthew, replacement therapy is recommended as it will prevent them from excessive bleeding which could damage their joints, muscles or other parts of their body. Antifibrinolytic Medicines should also be taken along with this treatment prior to having a procedure or doing an activity that increases the risk of bleeding.
***An important thing to keep in mind is that if you have Hemophilia A or Hemophilia B, getting quick treatment for bleeding is necessary. If not treated on time, this disorder could cause severe damages to your body.***Recommendations for lifestyle changesIn order to avoid excessive bleeding and protect his joints, the patient must accept the following guidelines:Exercise on a regular basis.Get involved in activities that could help build muscles as well protect the joints such as swimming, riding a bicycle or even simply walking in a park.
Make sure to avoid contact sports such as football, hockey or wrestling as they could damage your body parts easily.Protect yourself from injuries that could later result in bleeding. Make sure that you live in a house or work in an environment that does not have any furniture with very sharp corners as it could result in excessive bleeding. Also, remember to wear kneepads, elbow pads and helmets when playing any kind of sport that may result in injuries. Maintain good dental hygiene. Hemophiliacs are very likely to bleed during tooth extraction.
Therefore, if you maintain good dental hygiene, you will be able to prevent the excessive bleeding from your gums from a tooth extraction.