(D66) Hereditary factor viii deficiency

(Гемофилия а, Дефицит антигемофильного глобулина)

More details coming soon

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445 517 in individuals diagnosis hereditary factor viii deficiency confirmed
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3 333 deaths with diagnosis hereditary factor viii deficiency
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1% mortality rate associated with the disease hereditary factor viii deficiency

Diagnosis hereditary factor viii deficiency is diagnosed Men are 95.42% more likely than Women

435 315

Men receive the diagnosis hereditary factor viii deficiency

1 694 (0.4 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
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35
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15
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10 202

Women receive the diagnosis hereditary factor viii deficiency

1 639 (16.1 %)

Died from this diagnosis.

Risk Group for the Disease hereditary factor viii deficiency - Men aged 5-9 and Women aged 40-44

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In Men diagnosis is most often set at age 0-79, 85-94
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Less common in men the disease occurs at Age 80-84, 95+Less common in women the disease occurs at Age 0-1, 20-24, 35-39, 60-64, 70-74, 80-95+
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In Women diagnosis is most often set at age 0-19, 25-34, 40-59, 65-69, 75-79

Disease Features hereditary factor viii deficiency

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Non-contagious
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Absence or low individual and public risk
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Hereditary factor viii deficiency - what does this mean

Hereditary factor viii deficiency is a genetic disorder that is caused by a mutation in the gene responsible for producing factor viii, a protein that is essential for the normal clotting of blood. this mutation results in a deficiency of factor viii, which can lead to excessive bleeding and an increased risk of bleeding episodes.

What happens during the disease - hereditary factor viii deficiency

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Clinical Pattern

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How does a doctor diagnose

  • Complete medical history and physical examination
  • Blood tests to measure factor VIII activity
  • Genetic testing for mutations in the F8 gene
  • Imaging tests to look for signs of bleeding in the brain or other organs
  • Tests to measure levels of other clotting factors
  • Tests to measure levels of fibrinogen
  • Tests to measure levels of von Willebrand factor
  • Bone marrow biopsy

Treatment and Medical Assistance

Main goal of the Treatment: To reduce the risk of bleeding and increase the amount of factor VIII in the blood.
  • Administering replacement factor VIII concentrate
  • Monitoring factor VIII levels in the blood
  • Providing prophylactic factor VIII concentrate
  • Administering desmopressin (DDAVP)
  • Using antifibrinolytic drugs
  • Providing transfusions of fresh frozen plasma
  • Providing genetic counseling
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5 Days of Hospitalization Required
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37 Hours Required for Outpatient Treatment

Hereditary factor viii deficiency - Prevention

The prevention of hereditary factor viii deficiency is largely focused on genetic counseling and carrier testing for at-risk individuals. carrier testing can identify individuals that carry the gene for the condition, allowing them to make informed decisions about family planning.

Main symptoms of the disease hereditary factor viii deficiency

Bleeding

(Hemorrhaging, Haemorrhage, Hemorrhage, Discharge, Exuding, Ooze, Gush, Seep, Weep, Flow, Drain, Issue, Leak, Emit, Spill, Trickle, Shed, Siphon, Extrude, Squirt, Eject)

Bleeding is the loss of blood from the body. It can occur externally, through the skin, or internally, within the body. It is usually caused by a cut or wound, but can also be caused by a medical condition such as a bleeding disorder. It can range from mild to severe, and can be either acute (short-...

Age: 1 to 100Accociated with 27 diseases

Nose bleed

(Epistaxis, Nasal hemorrhage, Rhinorrhagia, Nasal haemorrhage, Nosebleed)

A nose bleed, also known as epistaxis, is a common symptom that occurs when the small blood vessels in the nose burst and bleed. It can occur suddenly, or develop gradually over time. Symptoms may include a sudden onset of bright red blood flowing from the nose, or a slow trickle of blood. Nose blee...

Age: 1 to 100Accociated with 26 diseases

Hemorrhage under the skin

Hemorrhage under the skin is a symptom characterized by the presence of blood or fluid under the skin. It may appear as a bruise, lump, or discoloration. It usually develops after a trauma or injury to the skin, but can also occur due to a medical condition. The type of hemorrhage can vary, ranging ...

Age: any ageAccociated with 25 diseases

Stiffness of movement

(Rigidity, Stiffness, Stiff, Inflexibility, Stiffen, Immobility, Stiffening, Stiffly, Rigidness, Rigidifying, Rigidify, Rigidly)

Stiffness of movement is a symptom characterized by difficulty in movement, usually due to muscle tightness or joint pain. It may manifest as a feeling of tightness in the muscles, as a lack of range of motion, or as difficulty in performing everyday activities. It can develop gradually over time, o...

Age: any ageAccociated with 48 diseases

Blood in the urine

(Hematuria, Urine with blood, Blood in urine, Discolored urine, Pink urine, Red urine, Maroon urine, Brown urine)

Blood in the urine, also known as hematuria, is a symptom that occurs when red blood cells are present in the urine. It can range from a few drops to a large amount of blood and may be accompanied by pain, a burning sensation, or difficulty urinating. The color of the urine may be pink, red, or brow...

Age: any ageAccociated with 41 diseases

Joint pain

(Arthritis, Rheumatism, Aches, Stiffness, Inflammation, Tenderness, Soreness, Swollen joints, Stabbing pain, Throbbing pain, Sharp pain, Dull ache)

Joint pain is a common symptom that can range from mild to severe. It is often caused by inflammation or injury to the joints, muscles, or tendons. It can be localized to one joint or affect multiple joints. It can be acute, lasting only a few days or chronic, lasting weeks or months. It may manifes...

Age: any ageAccociated with 130 diseases