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Hemophilia Is A Hereditary Bleeding Disorder That Primarily Affects Males

Hemophilia is an inherited bleeding disorder. With this condition, the blood does not clot as it should, which can result in spontaneous bleeding and bruising after surgery or other injuries.According to the Centers for Disease Control and Prevention (CDC), proteins called clotting factors work with platelets to stop bleeding at the site of an injury. People with the most common types of hemophilia produce lower amounts of either factor VIII or factor IX. This means that the person tends to bleed for a longer time after an injury and is more susceptible to internal bleeding.The CDC also states that the exact number of people living with hemophilia is not known. Estimates suggest that as many as 33,000 males were living with the condition in the United States from 2012 to 2018.Hemophilia is typically an inherited disorder, which means that a person is born with the condition. The CDC states that hemophilia is a sex-linked recessive condition. Hemophilia tends to occur in males. The reason for this has to do with inherited genes. Males inherit one X chromosome from the female parent and one Y chromosome from the male parent. Females have two X chromosomes, inheriting one from each parent.The genetic change that causes hemophilia is a recessive change in the X chromosome. Males have one copy of the genes in the X chromosome, and females have two copies. As a result, males have a 50% chance of developing hemophilia if their biological mother is a carrier of the gene. If they inherit the affected X chromosome, they have hemophilia.Females can also inherit hemophilia. However, this is rare. For females to inherit hemophilia, the affected gene is in both X chromosomes, or the affected gene is in one X chromosome, and inactive or missing in the other.Females with one altered gene can be carriers and pass the condition to any children they may have.In some cases, a person may spontaneously develop a gene mutation that causes hemophilia. In these cases, the person does not have a family history of the condition, and the biological mother is not a carrier.Rarely, a person may develop acquired hemophilia. They typically have no family or personal history of hemophilia. Instead, acquired hemophilia is an autoimmune condition where the body’s immune system starts to attack the clotting factors found in the blood.Von Willebrand diseaseAnother genetic disorder that causes frequent bleeding is von Willebrand disease (vWD). It causes bleeding episodes such as nosebleeds, bleeding gums, and excessive menstrual periods.According to the CDC, vWD affects around 1% of the American population.The condition affects every sex equally. However, females are more likely to develop symptoms. This is because people with a menstrual cycle may notice heavier or abnormal bleeding during menstrual periods, childbirth, or post-childbirth. There are two major types of hemophilia — type A and type B. Both A and B can be:Mild: Approximately 25% of cases are mild. A person with mild hemophilia has factor levels of 6–30%.Moderate: Approximately 15% of cases a moderate, and a person with moderate hemophilia will have factor levels of 1–5%.Severe: Approximately 60% of cases are severe, and people with severe hemophilia will have factor levels of less than 1%.Hemophilia A occurs due to a lack of clotting factor VIII. This type of hemophilia is four times more common than hemophilia B. Of those, more than half of people with hemophilia A have the severe form.Hemophilia B, colloquially known as Christmas disease, happens due to a lack of clotting factor IX. Hemophilia B occurs in around 1 in every 25,000 males born worldwide.Common signs of hemophilia include:bruisinghematomas, which is when there is bleeding into the muscle or soft tissuesbleeding from the mouth and gumsbleeding after a circumcisionblood in the stoolblood in the urinenosebleeds that are frequent and difficult to stopbleeding after vaccinations or other injectionsbleeding into the jointsAccording to the National Organization for Rare Disorders, the severity of hemophilia can also affect symptoms. In mild cases, a person will most likely experience:spontaneous nose bleedsbleeding from the mouth or gumseasy bruising or hematomasexcessive bleeding following dental or other surgical procedures or injurySymptoms for people living with the mild form may not show until adulthood.In moderate cases of hemophilia, a person may experience:easy and excessive bruisingexcessive bleeding following surgeries or traumaDoctors can often diagnose moderate cases by the time the person is 5 or 6.In severe cases of hemophilia, a person may experience spontaneous bleeding, often in the muscles or joints. This can lead to pain and swelling. Without treatment, it can result in arthritis in the affected joints. Doctors can often diagnose severe cases when the person is an infant. Diagnosis of hemophilia involves:a review of symptomsa clinical evaluationa review of personal medical historyblood tests and other diagnostic testingIf a person has bleeding problems, or if a doctor suspects hemophilia, a physician will ask about the person’s family and personal medical history. A doctor will then perform a physical examination.Blood tests can provide information about how long it takes for the blood to clot, the levels of clotting factors, and which clotting factors, if any, are missing. Blood test results can also help to identify the type of hemophilia and its severity.Though no cure exists for hemophilia, doctors can successfully treat the condition. Treatment focuses on replacing the missing protein and preventing complications. It involves giving or replacing the clotting factors that are too low or missing.Scientists can derive clotting factor treatments for replacement therapy from human blood or synthetically produce a form in a laboratory. Synthetically produced factors are called recombinant clotting factors.Doctors often consider recombinant clotting factors as their first treatment choice because they further reduce the risk of transmitting infections that can be present in human blood. However, modern screening techniques have decreased the likelihood of disease transmission from human samples.There are two main forms of replacement therapy:Prophylactic therapy: Some patients will need regular replacement therapy in order to prevent bleeding. This is called prophylactic therapy. Doctors typically recommend regular treatment for people with severe forms of Hemophilia A.Demand therapy: This will stop the bleeding on-demand. People living with mild hemophilia may only need demand therapy, which is a treatment that doctors provide only after bleeding begins and remains uncontrollable.Other treatment optionsIn 2018, the Food and Drug Administration approved a medication called emicizumab-kxwh. This is intended to reduce or prevent the frequency of bleeding episodes in those with hemophilia A, with or without factor VIII inhibitors. A doctor can administer this medication as an injection under the skin. Initially, a person will receive a dose of 3 mg/kg once a week for 4 weeks. After that, they can receive maintenance injections every 1–4 weeks, depending on the dosage.Other hemophilia A treatments include desmopressin, a manufactured hormone that stimulates the release of stored factor VIII, and antifibrinolytic medications, which prevent clots from breaking down.Doctors may prescribe one of several medications for people living with hemophilia B that replace Factor IX, such as Rixubis or Rebinyn. Treatment complicationsComplications from treatment of hemophilia may occur. They can include developing antibodies to treatments and viral infections from human clotting factors.Treatment can also cause blood clots.Getting treatment as soon as possible is important to help reduce the risk of damage to joints, muscles, and other body parts. A person can take several steps to help reduce the risk of excessive bleeding and to protect their joints.These include:regular low impact exercise or non contact sportsavoiding certain medications, such as aspirin, non-steroidal anti-inflammatory drugs (NSAIDs), and blood thinners, such as heparinpracticing good dental hygieneAs preventive treatment, a person should follow the doctor’s recommendations regarding when to get injections of clotting factor VIII or IX.The CDC recommends regular testing for blood-borne infections, such as HIV and hepatitis. They also recommend getting vaccinations for hepatitis A and B. People with hemophilia who receive donated blood products may be at risk of contracting these conditions.Hemophilia Treatment Centers (HTCs) are available for support. A CDC study of 3,000 people with hemophilia found that those who used an HTC were 40% less likely to die of a complication related to their condition.To protect against injuries that can cause bleeding, a person can wear protective gear. They should also take extra precautions, such as consulting a physician, when participating in sports or high impact activities.People living with hemophilia may experience bleeding following a shot. However, this should not stop someone from getting vaccinated. Prior to getting a vaccination, a person should consider getting a dose of factor replacement. Following a shot, they should plan to spend about 10 minutes applying pressure to the area.Several factors can affect a person’s safety when getting a shot. A person should speak with a doctor before getting any vaccination to avoid possible complications.Hemophilia is an inherited bleeding disorder associated with excessive bruising, nose bleeds, and spontaneous bleeding in severe cases. The condition typically affects males since the mutation occurs on the X chromosome and males have only one copy of it. A person living with hemophilia can take typically manage the condition with factor replacement therapy and lifestyle changes. Read this article in Spanish.

Video about Hemophilia Is A Hereditary Bleeding Disorder That Primarily Affects Males

Hemophilia A; An inherited Bleeding Disorder (Mutations)

This is yet another video in the series of videos focusing on the Mode of Inheritance of Genetic Diseases. The link to the previous videos in the series are the following
SEX LINKED INHERITANCE:

HUNTINGTON’S DISEASE (Autosomal Dominant)
Part 1: https://youtu.be/-zM8-7v7Ijw
Part 2: https://youtu.be/730EDnSMDHM
Part 3: https://youtu.be/c7JlQATLYwc
Sickle Cell anemia (Autosomal Recessive)
Part 1: https://youtu.be/_XJkRD5Pm4w
Part 2: https://youtu.be/aoJF6c6Wfl4
Part 3: https://youtu.be/zZ6HkkqEpCo
Part 4: https://youtu.be/Rh9zVwDy8Ps
CYSTIC FIBROSIS (Autosomal Recessive)
Part 1: https://youtu.be/bf68jLhGGLo
Part 2: https://youtu.be/YBVRu8SJPkM
Part 3: https://youtu.be/E4EKSzh-cZg
Part 4: https://youtu.be/6e3VcDamNi8
Part 5: https://youtu.be/hkyZCoBbY28
Hemophilia; an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding and hemophilic have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs.
In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy.  This condition often resolves with appropriate treatment.
The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.
Frequency
The two major forms of hemophilia occur much more commonly in males than in females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in approximately 1 in 20,000 newborn males worldwide.
Female: XX Male: XY
Mutation in Hemophilia A
F8 gene is very large (186,000 bases); 26 exons encode the 2332 amino acid and cover 8,000 bases. Three types of Point Mutation cause Hemophilia A
1. Missense Mutation; mutation in DNA replace one amino acid with another
Exon 19: G to A point mutation at 6089; produces asparagine instead of serine (at amino acid position 2030). Usually associated with mild Hemophilia
2. Nonsense mutation
A nonsense mutation is a base change that creates a new STOP codon
C toT point mutation at 6682: CGA, Arginine (2228) to STOP.
Because of this, there is premature termination of translation, producing shortened (105 amino acids are missing) and unstable protein and the patient have severe hemophilia A
3. Frame Shift Mutation
A different set of amino acids is read after the inserted (or deleted) base, biological activity of the protein is lost and usually causes severe Hemophilia
Single base (A) deleted at nucleotide 3637 changing the reading frame

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