Outline
Introduction
Hemophilia is one of the most common and severe hemorrhagic disorders. It is a genetically inherited disease and causes prolonged, excessive bleeding spontaneously or after minor trauma. Hemophilia comes from the phrases hemo - meaning blood and philia -meaning love.
Hemophilia is diagnosed higher in males than females as it is an X chromosome-linked disorder.
Types of Hemophilia
There are 3 types of hemophilia - hemophilia A, B, and C. Hemophilia C is not genetically inherited.
Cause
The disease is caused by the lack or malfunctioning of specific clotting factors in the blood. The disease causes dangerous amounts of bleeding into joints. Due to its significance and huge impact on people’s lives, World Hemophilia Day is celebrated on April 17 to spread awareness and educate people about hemophilia.
Symptoms
Symptoms associated with hemophilia differ according to the severity of the disease in the patient. The severity depends on how much damage has been made to the clotting factors. A mild reduction in the number of clotting factors in blood has mild symptoms such as prolonged bleeding after trauma or surgery. Severe reduction in the number of clotting factors in the bloodstream has more serious symptoms such as spontaneous bleeding.
Some common symptoms for hemophilia are - random bleeding after minor injuries, dental work and surgery, heavy bruises, random bleeding after getting vaccinated, pain and stiffness in joints, nosebleeds, bleeding gums, blood in stool, and irritability observed in children. Hemophilia can also lead to bleeding in internal organs such as the brain and muscles. Several symptoms can be observed during brain hemorrhaging too. Symptoms of brain hemorrhage are continuous headaches and vomiting, drowsiness, double vision, weak body, seizures, and neck irritability.
When there is an open wound, blood cells gather on site of the wound with the help of platelets and clotting factors to close it and prevent loss of blood. Clotting factors boost this coagulation process.
Coagulation
There are 13 such factors in the blood that help with coagulation(also known as clotting).
Hemophilia is caused by the deficiency of certain clotting factors in the blood.
How are Hemophilia A & B caused?
Lack of factor VIII or factor IX can lead to hemophilia A or B.
The presence of absence of these clotting factors is in a gene present a sex chromosome - X chromosome. Females have two X chromosomes and males have one X and one Y chromosomes.
How do females get Hemophilia?
For a female to have hemophilia, she will have to have the respective trait in both X chromosomes.
How do males get Hemophilia?
Whereas, for a male, one trait in the X chromosome is enough to make them hemophilia patients.
Main point: In other words, there is a possibility of females being carriers of hemophilia, whereas that is not the case for men. This explains why hemophilia is more prevalent in men than women.
Hemophilia C does not get transmitted this way - it is not a sex-linked trait and affects both genders equally. It is caused by the lack of clotting factor XI and has milder symptoms.
Sometimes, sudden changes in a person's DNA, called mutations, can alter their body's immune response. Antibodies identify their own body's clotting factors as a foreign substance and begin to attack them. This is a case where hemophilia is not genetically inherited. About 30% of hemophilia patients did not inherit the disorder.
How is it diagnosed?
Hemophilia is diagnosed by a blood test. The blood sample is analyzed for the number of coagulation factors VIII, IX, and XI. Patients with mild hemophilia have 5-40 % clotting factors, moderate hemophilia patients have 1%-5% factors and patients with less than 1% coagulation factors are severely affected.
Treatments
Unfortunately, there is no cure for hemophilia but there are treatments to control the symptoms and the disease. Desmopressin hormones are injected into the body. It stimulates the function of other coagulation factors to control bleeding. Donots volunteer to donate clotting factors, which are then concentrated and infused into the patient's bloodstream. Recently, scientists have come up with a way to synthesize clotting factors known as recombinant clotting factors. It is a powdered product that is mixed with sterile water before use. Plasma infusion is usually the go-to treatment for hemophilia C. The direct medication for the treatment of hemophilia C is only available in Europe. Physical therapy is advised for patients with damaged joints. Prophylactic therapy is also advised regularly to prevent bleeding
There is no direct prevention against hemophilia, but there are ways to detect the disease earlier. Families who have a history of hemophilia get their boy babies tested during circumcision for excessive bleeding. Bleeding in joints is what makes the disorder even more severe. Hence if a child is diagnosed with hemophilia, the priority is to reduce the bleeding in joints.
Sources
“Hemophilia.” MedlinePlus, U.S. National Library of Medicine, 5 Nov. 2020, medlineplus.gov/hemophilia.html.
AKR;, Mehta P;Reddivari. “Hemophilia.” National Center for Biotechnology Information, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/31869071/.
“Hemophilia.” Genome.gov, www.genome.gov/genetics-glossary/hemophilia.
“Hemophilia.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 7 Aug. 2020, www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327.
Commissioner, Office of the. “Hemophilia Treatments Have Come a Long Way.” U.S. Food and Drug Administration, FDA, www.fda.gov/consumers/consumer-updates/hemophilia-treatments-have-come-long-way.
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