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Hemophilia B

Christmas Disease

Hemophilia B, also known as Christmas disease, is an inherited, X-linked, recessive disorder, caused by a mutation in the gene encoding for coagulation factor IX.

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Presentation

The acuity and age of presentation of symptoms is dependent on the extent of the factor IX deficiency, as described above. Clotting factor deficiencies result in hematomas and hemarthroses. Hemarthroses is a hallmark presentation of hemophilia B [3]. It occurs when bleeding begins in the synovial vessels and hemorrhage occurs within the joint cavity. The bleeding results in distension of the synovial space and causes muscle spasms, pain and arthropathy. In infants, the disorder presents as irritability and decreased use of the affected limb. In older children and adults, hemarthrosis presents as stiffness and in some patients as a warm sensation followed by acute pain and swelling [4].

In neonates and infants, symptoms may include bleeding and hematoma following delivery, after procedures (such as circumcision) or spontaneously (such as an intracranial hemorrhage) [5]. As children begin to walk, bleeding episodes involve the joints and muscles. The onset of bleeding may be spontaneously or after minimal injury. Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache [6].

Prolonged Bleeding
  • We report on female twins, who were conspicious in prolonged bleeding after venipuncture as well as hematomas after intramuscular injections even in the first months of their life. Their father suffering from a severe hemophilia B deceased in 1992.[ncbi.nlm.nih.gov]
  • Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene . 0005261 Menometrorrhagia 0400008 Poor wound healing 0001058 Prolonged bleeding after dental extraction 0006298 Prolonged bleeding after surgery Excessive[rarediseases.info.nih.gov]
  • Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing. Incidence: 1 in 25,000 males worldwide.[ltd.aruplab.com]
  • Prolonged bleeding is the main symptom. It is often first seen when the infant is circumcised. Other bleeding problems usually show up when the infant starts crawling and walking. Mild cases may go unnoticed until later in life.[medlineplus.gov]
  • Symptoms are usually prolonged bleeding and hematoma (a large bruise). In babies this may happen after or during delivery or after procedures (such as circumcision).[symptoma.com]
Spontaneous Hemorrhage
  • If the biological activity of factor IX is below 1%, the hemophilia is severe and manifests as frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction (severe hemophilia B; see this[orpha.net]
  • Clinical Presentation of Hemophilia B A history of bleeding disproportionate to trauma or of spontaneous hemorrhage suggest hemophilia. There could be a family history of bleeding problems.[medcaretips.com]
Easy Bruising
  • […] as Christmas disease Epidemiology 1 in 30,000 male births Almost exclusively affects males Rarely affects females (see etiology) Female carriers are unaffected Sites Bleeding into muscle, soft tissue or joints (hemarthrosis), GI / GU tract bleeding, easy[pathologyoutlines.com]
Dyspnea
  • In September 1986, he had severe dyspnea due to interstitial pneumonia and he was treated with high-dose methylprednisolone.[ncbi.nlm.nih.gov]
  • Advise patients who self-administer to immediately report symptoms of hypersensitivity, including angioedema, chest tightness, hypotension, generalized urticaria, wheezing, and dyspnea.[idelvion.com]
  • […] lethargy, irritability, and spinal cord syndromes GI - Hematemesis, melena, frank red blood per rectum, and abdominal pain Genitourinary - Hematuria, renal colic, and postcircumcision bleeding Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea[emedicine.medscape.com]
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
Tachypnea
  • Physical Examination Systemic signs of hemorrhage include the following: Tachycardia Tachypnea Hypotension Orthostasis Organ system–specific signs of hemorrhage include the following: Musculoskeletal (joints) - Tenderness, pain with movement, decreased[emedicine.medscape.com]
  • These are Tachycardia Tachypnea Hypotension Organ system–specific signs of hemorrhage should be looked for. For example tenderness in joints or confusio Patients should be thoroughly examined for bone and joint examination, jaundice, deformties.[medcaretips.com]
  • Diagnosis Examination in patients with hemophilia B may reveal the following signs of hemorrhage: Systemic: Tachycardia, tachypnea, hypotension, and/or orthostasis Musculoskeletal: Joint tenderness, pain with movement, decreased range of motion, swelling[emedicine.medscape.com]
Hemoptysis
  • […] neck, vomiting, lethargy, irritability, and spinal cord syndromes GI - Hematemesis, melena, frank red blood per rectum, and abdominal pain Genitourinary - Hematuria, renal colic, and postcircumcision bleeding Other - Epistaxis, oral mucosal hemorrhage, hemoptysis[emedicine.medscape.com]
Pain
  • Women reported greater pain severity than men on the Brief Pain Inventory v2 Short Form (median, 7.00 vs 5.00).[ncbi.nlm.nih.gov]
  • Following treatment, improvements were noted in the range of movement of knees and ankles, the perception of pain in both knees, and ankle functionality.[ncbi.nlm.nih.gov]
  • Signs of hemorrhage include the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and[emedicine.medscape.com]
  • Individuals with hemophilia B experience frequent and spontaneous bleeding episodes into joints and muscles that can lead to severe arthropathy, chronic pain, disability, and diminished quality of life (QoL).[ncbi.nlm.nih.gov]
  • IM injection will produce a large and painful haematoma .[patient.info]
Weakness
  • Others suggest that FVIIa binds platelets where it activates FX directly; the high concentration required would result from FVIIa's weak affinity for phospholipids.[ncbi.nlm.nih.gov]
  • And one-time player Dimension Therapeutics was forced out of hemophilia B by weak results , with Ultragenyx picking up the rest of the pipeline in a buyout. The race goes on.[endpts.com]
  • Signs of hemorrhage include the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and[emedicine.medscape.com]
  • If it happens, get emergency medical help for any of these signs of bleeding in the brain : Headache Neck pain and stiffness Vomiting Sleepiness Sudden weakness or problems walking Getting a Diagnosis In the first 6 months of life, babies don’t fall or[webmd.com]
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
Anemia
  • We present the case of a 13-year-old boy who presented with a grade 4 splenic laceration, acute blood loss anemia, and hypotension that was managed nonoperatively.[ncbi.nlm.nih.gov]
  • […] due to disease D64.2 Secondary sideroblastic anemia due to drugs and toxins D64.3 Other sideroblastic anemias D64.4 Congenital dyserythropoietic anemia D64.8 Other specified anemias D64.81 Anemia due to antineoplastic chemotherapy D64.89 Other specified[icd10data.com]
  • Women can experience prolonged or heavy menstrual bleeding (menorrhagia) and the excessive blood loss can lead to anemia resulting in weakness and fatigue.[blogs.biomedcentral.com]
Vomiting
  • A 44-year-old male with severe hemophilia B was referred to our department because of nausea, vomiting, left lower limb hemiplegia, and left arm paresis. Computed tomography (CT) revealed a right frontal intraparenchymal bleed.[ncbi.nlm.nih.gov]
  • Signs of bleeding in the brain may include changes in behavior, excessive sleepiness, persistent headaches and neck pain, double vision, vomiting, and convulsions or seizures. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
  • Signs of hemorrhage include the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and[emedicine.medscape.com]
  • If it happens, get emergency medical help for any of these signs of bleeding in the brain : Headache Neck pain and stiffness Vomiting Sleepiness Sudden weakness or problems walking Getting a Diagnosis In the first 6 months of life, babies don’t fall or[webmd.com]
  • There may be headache, stiff neck, vomiting, lethargy, irritability and spinal cord syndromes. There can be intracranial bleeding. Bleeding from the gut may produce haematemesis, melaena, frank red blood per rectum and abdominal pain.[patient.info]
Abdominal Pain
  • pain Genitourinary - Hematuria, renal colic, and postcircumcision bleeding Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea (hematoma leading to airway obstruction), compartment syndrome symptoms, and contusions Joint and muscle hemorrhage[emedicine.medscape.com]
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
  • Bleeding from the gut may produce haematemesis, melaena, frank red blood per rectum and abdominal pain. There may be microscopic haematuria or gross bleeding into the urinary tract.[patient.info]
  • ., fever, sweating, muscle ache, abdominal pain, and diarrhea). Factor IX Activity Figure 1. Figure 1. Summary of Factor IX Activity and Liver Function after Vector Infusion in 10 Patients with Hemophilia B.[nejm.org]
Melena
  • A full-term male, healthy newborn infant suddenly developed melena and rectal fresh blood oozing at age of 4 days.[ncbi.nlm.nih.gov]
  • General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes GI - Hematemesis, melena[emedicine.medscape.com]
Hematemesis
  • […] the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes GI - Hematemesis[emedicine.medscape.com]
Rectal Bleeding
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
Oral Bleeding
  • Oral bleeding at tooth eruption may be seen. With physical activity in children, hemarthrosis and hematomas occur. Chronic arthropathy may result in a joint that is repeatedly affected.[medcaretips.com]
  • Young children may also have oral bleeding when their teeth are erupting. Bleeding from gum and tongue lacerations is often troublesome because the oozing of blood may continue for a long time despite local measures.[emedicine.medscape.com]
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
  • bleeding during teething Children: Hemarthrosis and hematomas with increasing physical activity; chronic arthropathy (late complication); traumatic intracranial hemorrhage (life threatening) There may also be signs and symptoms of infectious disease[emedicine.medscape.com]
Tachycardia
  • Physical Examination Systemic signs of hemorrhage include the following: Tachycardia Tachypnea Hypotension Orthostasis Organ system–specific signs of hemorrhage include the following: Musculoskeletal (joints) - Tenderness, pain with movement, decreased[emedicine.medscape.com]
  • There may be pallor, dyspnoea, tachycardia and other features of exsanguination. Differential diagnosis [ 4 ] Haemophilia A . Von Willebrand's disease . Factor IX inhibitors. Vitamin K deficiency .[patient.info]
  • These are Tachycardia Tachypnea Hypotension Organ system–specific signs of hemorrhage should be looked for. For example tenderness in joints or confusio Patients should be thoroughly examined for bone and joint examination, jaundice, deformties.[medcaretips.com]
  • Diagnosis Examination in patients with hemophilia B may reveal the following signs of hemorrhage: Systemic: Tachycardia, tachypnea, hypotension, and/or orthostasis Musculoskeletal: Joint tenderness, pain with movement, decreased range of motion, swelling[emedicine.medscape.com]
Purpura
  • ICD-10-CM Codes › D50-D89 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism › D65-D69 Coagulation defects, purpura and other hemorrhagic conditions › D67- Hereditary factor IX deficiency › Hereditary factor[icd10data.com]
Delayed Wound Healing
  • Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing. Incidence: 1 in 25,000 males worldwide.[ltd.aruplab.com]
Arthritis
  • Septic arthritis occurs infrequently in the hemophilic population despite their chronic joint disease; indications for diagnostic arthrocentesis in these individuals are discussed. The group B streptococcus often behaves as an opportunist in adults.[ncbi.nlm.nih.gov]
  • Spontaneous bleeding into joints, giving rise to severe chronic arthritis, is a common problem among persons with severe hemophilia; in addition, there is bleeding into the brain and the abdominal cavity, as well as marked… Read More[britannica.com]
  • Women were more likely than men to self-report arthritis and depression/anxiety as comorbidities associated with hemophilia B.[ncbi.nlm.nih.gov]
  • The role of specialty pharmacy in improving patient self-management and supporting medication management and adherence is well established and reported with rheumatoid arthritis, multiple sclerosis, and renal transplant.[ncbi.nlm.nih.gov]
  • The clinical spectrum may include spontaneous or trauma-induced bleeding into joints, muscles, and soft tissues, resulting in joint damage, reduction in mobility and severe arthritis, all of which negatively impact health-related quality of life.[hemophiliafed.org]
Joint Deformity
  • Insufficient or incorrect treatment of recurrent hemarthroses and hematomas leads to motor impairment with severe disability associated with stiffness, joint deformation and paralysis.[orpha.net]
  • Repeated bleeding into the joints and muscles eventually causes permanent damage, such as joint deformity and reduced mobility. Bleeding in the brain is a very serious problem for those with severe hemophilia, and may be life-threatening.[my.clevelandclinic.org]
Contusion
  • […] red blood per rectum, and abdominal pain Genitourinary - Hematuria, renal colic, and postcircumcision bleeding Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea (hematoma leading to airway obstruction), compartment syndrome symptoms, and contusions[emedicine.medscape.com]
  • Other possible features include epistaxis, haemorrhage into the oral mucosa, haemoptysis, dyspnoea from a haematoma obstructing the airway, compartment syndromes and contusions.[patient.info]
Muscle Spasm
  • The bleeding results in distension of the synovial space and causes muscle spasms, pain and arthropathy. In infants, the disorder presents as irritability and decreased use of the affected limb.[symptoma.com]
  • A muscle spasm may occur when the muscle tightens up to protect itself, called Volkman’s sign. Development of a compartment syndrome represents a serious bleed and the hemophilia treatment center should be contacted immediately.[rarebleedingdisorders.com]
Musculoskeletal Pain
  • N Engl J Med 344:1735–1742 PubMed Google Scholar Santavirta N et al (2001) Musculoskeletal pain and functional ability in haemophilia A and B. Physiotherapy and rehabilitation in haemophilia patients.[link.springer.com]
Epistaxis
  • Rarely affects females (see etiology) Female carriers are unaffected Sites Bleeding into muscle, soft tissue or joints (hemarthrosis), GI / GU tract bleeding, easy bruising, excessive bleeding after surgery, trauma, dental procedures or circumcision; epistaxis[pathologyoutlines.com]
  • (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes GI - Hematemesis, melena, frank red blood per rectum, and abdominal pain Genitourinary - Hematuria, renal colic, and postcircumcision bleeding Other - Epistaxis[emedicine.medscape.com]
  • Other common symptoms include excessive bruising, oral bleeding, epistaxis, hematuria, rectal bleeding, weakness, abdominal pain and tenderness, dyspnea and headache.[symptoma.com]
  • Prolonged bleeding after surgery Excessive bleeding during surgery Protracted bleeding after surgery [ more ] 0004846 Prolonged bleeding time 0003010 Prolonged partial thromboplastin time 0003645 Reduced factor IX activity 0011858 Spontaneous, recurrent epistaxis[rarediseases.info.nih.gov]
  • Other possible features include epistaxis, haemorrhage into the oral mucosa, haemoptysis, dyspnoea from a haematoma obstructing the airway, compartment syndromes and contusions.[patient.info]
Hematuria
  • Caution is necessary if hematuria B requires administration of rFVIIa. US color doppler renal imaging before and after drug administration should be sufficient as an early warning.[ncbi.nlm.nih.gov]
  • Spontaneous hematuria is a fairly frequent and highly characteristic sign of the disorder. Etiology Hemophilia B is caused by mutations in the F9 gene (Xq27) encoding coagulation factor IX.[orpha.net]
  • In the genitourinary tract, gross hematuria may occur in as many as 90% of patients. In the GI tract, bleeding may complicate common GI disorders. Bleeding in the CNS is the leading cause of hemorrhagic death among patients with hemophilia.[emedicine.medscape.com]
Bladder Spasm
  • spasm/distension/pain, costovertebral angle pain Other - Hematoma leading to location-specific signs (eg, airway obstruction, compartment syndrome) Signs of infectious disease include the following: HIV/AIDS-related signs Hepatitis-related signs Direct[emedicine.medscape.com]
  • spasm/distention/pain, costovertebral angle pain Other: Hematoma leading to location-specific signs (eg, airway obstruction, compartment syndrome) Laboratory tests Laboratory studies for suspected hemophilia B include the following: Complete blood cell[emedicine.medscape.com]
Headache
  • The most common adverse reaction (incidence 1%) reported in clinical trials was headache. Please see full prescribing information for IDELVION.[idelvion.com]
  • The most common adverse events were headache (12.1%) and common cold (11.2%), and the majority of adverse events were considered by the investigator to be unrelated to Alprolix treatment.[raredr.com]
  • The most common side effect observed for Idelvion was headache. Idelvion is manufactured by CSL Behring, headquartered in King of Prussia, Pennsylvania. The FDA, an agency within the U.S.[fda.gov]
  • The most common adverse drug reaction observed in 2% of patients in clinical trials was headache.[hemophiliafed.org]
  • Signs of bleeding in the brain may include changes in behavior, excessive sleepiness, persistent headaches and neck pain, double vision, vomiting, and convulsions or seizures. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
Intracranial Hemorrhage
  • Even if bleeding occurs, it rarely becomes life-threatening, such as in intracranial hemorrhage (ICH). We here report a case of a 4-day-old boy who had intracranial hemorrhage as the first complication of hemophilia B.[ncbi.nlm.nih.gov]
  • Intracranial hemorrhage (ICH) is an uncommon complication of hemophilia in the 1st year of life and most often is reported after head trauma or birth trauma.[ncbi.nlm.nih.gov]
  • One of the most feared complications in this population is the spontaneous or post-traumatic development of intracranial hemorrhage (ICH).[ncbi.nlm.nih.gov]
  • However, as he suffered from intracranial hemorrhage at the age of 1 year, he underwent first ITI at the age of 1 year. Unfortunately, this failed to reduce the level of the inhibitor, and this strategy was stopped after 2 years.[ncbi.nlm.nih.gov]
  • Traumatic intracranial hemorrhage is a serious life-threatening complication that requires urgent diagnosis and intervention. With mild disease, hemorrhage is most likely to occur with trauma or surgery.[emedicine.medscape.com]
Lethargy
  • Signs of hemorrhage include the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and[emedicine.medscape.com]
  • Other adverse reactions reported included asthenia (weakness), apathy (lack of feeling, emotion, interest, or concern), depression, dysgeusia (taste alteration), hemophilia, influenza (flu), injection site discomfort, lethargy (lack of energy) and skin[hemophiliafed.org]
  • There may be headache, stiff neck, vomiting, lethargy, irritability and spinal cord syndromes. There can be intracranial bleeding. Bleeding from the gut may produce haematemesis, melaena, frank red blood per rectum and abdominal pain.[patient.info]
Irritability
  • Signs of hemorrhage include the following: General - Weakness and orthostasis Musculoskeletal (joints) - Tingling, cracking, warmth, pain, stiffness, and refusal to use joint (children) CNS - Headache, stiff neck, vomiting, lethargy, irritability, and[emedicine.medscape.com]
  • In infants, the disorder presents as irritability and decreased use of the affected limb. In older children and adults, hemarthrosis presents as stiffness and in some patients as a warm sensation followed by acute pain and swelling.[symptoma.com]
  • There may be headache, stiff neck, vomiting, lethargy, irritability and spinal cord syndromes. There can be intracranial bleeding. Bleeding from the gut may produce haematemesis, melaena, frank red blood per rectum and abdominal pain.[patient.info]
Seizure
  • Signs of bleeding in the brain may include changes in behavior, excessive sleepiness, persistent headaches and neck pain, double vision, vomiting, and convulsions or seizures. Cleveland Clinic is a non-profit academic medical center.[my.clevelandclinic.org]
  • These bleeds can cause seizures and loss of consciousness and are a major cause of death in people with hemophilia.[rarebleedingdisorders.com]

Workup

Diagnosis for hemophilia B is made through a family history, laboratory screening tests and specific assays. Approximately 70% of people with hemophilia B have a family history of the disease. However approximately one-third of patients do not have a family history of hemophilia B. In these patients, the disease may be a result of a spontaneous mutation [7].

Screening tests such as coagulation tests (prothrombin time (PT), activated partial thromboplastin time (aPTT) and a platelet count) can be used to help determine the etiology of the person’s symptoms. Persons with hemophilia A and B have a normal platelet count and normal PT, but have a prolonged aPTT. For those persons with a prolonged aPTT, assays for the various clotting factors (factors VIII, IX and XI) should be performed to identify the type of hemophilia. An abnormal assay for factor IX is diagnostic for hemophilia B.

Treatment

The goal of treatment is to prevent bleeding and hemorrhage prophylactically, especially in patients with moderate to severe disease. Also to recognize and control bleeding when it occurs. Medications used in the treatment of hemophilia B include:

  • Laboratory made factor IX (Recombinant factor IX) is often used for prophylactic treatment. Studies have shown that when recombinant coagulation factor IX is started during the early years of life on a routine basis as a prophylaxis treatment, there is a reduced the risk of hemorrhage and arthropathy [8]. The Medical and Scientific Advisory Council of the National Hemophilia Foundation supports prophylaxis therapy for children with severe hemophilia B [9] [10].
  • Antifibrinolytics (epsilon aminocaproic acid, tranexamic acid)
  • Antihemophilic agents (desmopressin acetate (a non-blood product), human antihemophilic factor)

Prognosis

Uncontrolled hemorrhage may lead to significant morbidity and/or death. Late complications of the disorder may include:

  • Joint destruction due to hemarthroses, resulting in several orthopedic abnormalities
  • Transmission of blood-borne infections (if factor IX is given through plasma transfusion)
  • Development of inhibitor antibodies

Etiology

In hemophilia B the protein (factor IX) needed to form blood clots is absent or reduced.

Epidemiology

Hemophilia B affects 20% of all persons with hemophilia; it is the second most common type of hemophilia [1]. Its overall incidence is approximately 1 in 25,000 male births. The disorder is more symptomatic in males over females since it is an X-linked disorder. Females have two X-chromosomes. Therefore a recessive X-linked disorder will usually be “silenced” by the normal factor IX gene on the other X chromosome, thus preventing the expression of the disease. The woman is referred to as a “carrier”. Males have only one X chromosome, therefore any genetic mutations on the X chromosome, whether recessive or dominant, will be expressed. Its incidence is similar in all races and geographic areas.

Sex distribution
Age distribution

Pathophysiology

When a blood vessel is injured, a series of biochemical reactions initiate the coagulation cascade. Various reactions involving protein factors such as factor IX, bind and activate other factors to form a clot on the injured blood vessel [2]. A majority of patients are diagnosed with hemophilia B prior to any bleeding event based on family history. Hemophilia B is an X-linked recessive disorder in which there is factor IX deficiency.

Levels of factor IX range from 70 to 120% of the normal values. There are different levels of hemophilia B depending on the degree of factor IX deficiency in the person’s blood. Persons with:

  • Mild disease have at least or more than 5% factor level IX in their blood. Persons with mild disease may be essentially asymptomatic.
  • Moderate disease have 1 to 5 % of the normal clotting factor IX. These patients tend to bleed after injuries and some bleed spontaneously. Symptoms generally onset in the mid-teens through middle age in patients with moderate disease.
  • Severe hemophilia cases have less than 1% of the normal clotting factor IX in their blood. These patients have significant bleeding after injuries, frequent spontaneous bleeding episodes, and hemarthroses. Symptoms may appear as early during infancy in persons with severe factor IX deficiency.

Prevention

There are no guidelines for prevention of hemophilia B.

Summary

Hemophilias are a group of inherited bleeding disorders characterized by deficiency of functional plasma coagulation factors. The different types of hemophilia include type A and type B. In this section we focus on the second most common type of hemophiliahemophilia B, also called factor IX deficiency or Christmas disease. It was named “Christmas disease” after Stephen Christmas, who was the first patient diagnosed with the disorder in 1952. Hemophilia B is a disorder in which the protein (factor IX) needed to form blood clots is absent or reduced. It is an X-linked, recessive genetic disorder that is characterized by the deficiency of functional plasma protein coagulation factor IX, which results in prolonged bleeding and/or hemorrhage.

Patient Information

What is hemophilia B?

Hemophilia is a rare genetic blood clotting disorder that mainly affects men. People who have hemophilia do not have enough of, or are missing, one of the proteins required for clotting of blood called factor IX. There are different types of hemophilia: A, B and Von Willebrand disease. Hemophilia B is the second most common type of hemophilia. It is also known as Factor IX deficiency or “Christmas disease”. It was named “Christmas disease” after Stephen Christmas, who was the first patient diagnosed in 1952.

When a blood vessel is injured, the body starts a process that activates a series of proteins to form a clot to stop bleeding. A person with hemophilia B lacks one of the proteins required for this process, called factor IX. Therefore, a person with hemophilia B will bleed for a long time when they are injured or cut. Sometimes bleeding occurs spontaneously (without any apparent reason).

The severity of the disease depends on the amount of factor IX that is produced in the body. Hemophilia B is rated as:

  • Mild: A person’s body makes at least or more than 5% of the factor level IX. The persons have milder disease or may not have any symptoms at all until later in life.
  • Moderate: A person has 1 to 5% of the normal clotting factor IX. These persons bleed for a long time after injuries and also may develop spontaneous bleeding. Symptoms may begin during the teenage years through middle age.
  • Severe: A person with less than 1% of the normal clotting factor IX in their blood is considered to have severe hemaphilia. These persons have significant bleeding after injuries, frequent spontaneous bleeding episodes, and hemarthroses (bleeding into their joints). Symptoms may appear as early during infancy.

What causes hemophilia B?

In most people, hemophilia B is inherited. It is caused by a recessive defect on a gene that is on the sex chromosome “X”. Women have two X chromosomes, therefore if a woman has one defective gene on one X chromosome, but a normal gene for factor IX on her other X chromosome, she will usually not show any symptoms. She is a carrier and may pass the gene onto her children. Men have only one X chromosome. Therefore a defective gene on their X chromosome will result in their having symptoms of the disorder. Therefore, hemophilia B symptoms are more common in men than women. In some people, a “spontaneous mutation” occurs in their gene that causes them to develop hemophilia B.

What are the symptoms of hemophilia B?

Symptoms are usually prolonged bleeding and hematoma (a large bruise). In babies this may happen after or during delivery or after procedures (such as circumcision). Sometimes the bleeding occurs without any apparent reason (such as bleeding in the brain). As children begin to walk, bleeding may occur in joints and muscles. Other symptoms include excessive bruising or blood in the urine.

How is it diagnosed?

Diagnosis for hemophilia B is made through a family history screening, laboratory blood tests and specific assays. Your doctor will ask you about your family’s medical history. In particular if any member of your family has a bleeding disorder. Approximately 70% of people with hemophilia B have a relative with a bleeding disorder. However approximately one-third of patients do not have a family history of hemophilia B. In these patients, the disease may be a result of a spontaneous mutation.

If your doctor suspects a bleeding disorder, he/she will order laboratory tests to determine if a bleeding disorder is present and the type of disorder. Laboratory blood tests, called a coagulation panel, include prothrombin time (PT), activated partial thromboplastin time (aPTT) and a platelet count. Persons with hemophilia A and B have a normal platelet count and normal PT, but have a prolonged aPTT. For those persons with a prolonged aPTT, assays to determine the levels of the various clotting factors (Factors VIII, IX and XI) will be performed to identify the type of hemophilia. This is also a blood test. An abnormal assay for Factor IX is diagnostic for hemophilia B.

What is the treatment?

Currently there is no cure for hemophilia. However there are laboratory made factor IX replacements that can be given as prophylaxis. This means that the medication can help prevent symptoms such as bleeding and hemorrhaging. One commonly used medication is called “recombinant factor IX”. This medication is given intravenously (by IV). It is made in the laboratory and mimics the factor IX that a healthy person’s body makes. It is often given on a routine basis as a prophylactic (preventative) treatment. There are additional medications available and your doctor can discuss those options with you.

References

Article

  1. Soucie JM. Public Health surveillance and data collection: general principles and impact on hemophilia care. Hematology. 2012 Apr;17 Suppl 1:S144-6.
  2. Konkle BA, Josephson NC, Nakaya Fletcher SM, Thompson AR. Hemophilia B. 2000 Oct 02 [updated 2011 Sep 22]. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® : University of Washington, Seattle; 1993-2014. PMID: 20301668.
  3. Escobar M, Sallah S. Hemophilia A and hemophilia B: focus on arthropathy and variables affecting bleeding severity and prophylaxis. J Thromb Haemost. 2013 Aug;11(8):1449-53.
  4. Pollman H, Richter H, Ringkamp H, Jurgens H. When are children diagnosed as having severe haemophilia and when do they start to bleed? A 10-year single-center PUP study. Eur J Pediatr 1999; 158 Suppl 3:S166.
  5. Klinge J, Auberger K, Auerswald G, et al. Prevalence and outcome of intracranial haemorrhage in haemophiliacs – a survey of the paediatric group of the German Society of Thrombosis and Haemostasis (GTH). Eur J Pediatr 1999; 158 Suppl 3: S162.
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Last updated: 2017-08-09 17:27