Haemophilia - Medtick

Haemophilia

What is it?

A condition that affects the blood’s ability to clot.

  • For ones blood to clot one needs blood cells calls platelets, the platelets have a sticky surface which join with other platelets to allow blood  to clot.
  •  On the surface of the platelet there are proteins which help to for a ‘web’ called fibrin this helps the platelets to stick together.
  • To form Fibrin one needs a series of reactions and cells/proteins called clotting factors, hemophilia is when one has a lack of certain clotting factors hence it takes longer to form fibrin and hence for the body to clot.
  • There are different types of  hemophilia depending to blood clotting factors affected:
  • This condition normally affects males.

  • However, females may have clinical bleeding if any of the following three conditions is present:
    • Extreme lyonization (i.e. inactivation of the normal factor VIII allele in one of the X chromosomes)
    • Homozygosity for the haemophilia gene (i.e. father with haemophilia and mother who is a carrier, two independent mutations, or some combination of inheritance and new mutations)
    • Turner syndrome (XO) associated with the affected haemophilia gene

Medscape

Cause

  • Family history
  • Mutated gene (a gene  contains our DNA  sequence and contains information of us in our cells), the DNA sequence has been altered  and affects the proteins in their cells to perform their functions.

Symptoms

  • Easy or unexplained bruising (purpura)?
  • Red or purple spots on the skin (petechiae)-not always?
  • Prolonged bleeding from small cuts?
  • Nose bleeds?
  • Bleeding gums when brushing?
  • Joint stiffness and pain?
  • Pain, numbness, burning and tingling (pins and needles) sensation in one’s hands and fingers (thumb and/or index finger and/or middle finger and/or ring finger and/or small finger)?
  • Pain and/or numbness and/or tingling sensation in one or both legs and/or foot area and/or leg aching which comes and goes?
  • Inflamed (hot, red and swollen) joints, tenderness and warmth to the touch?
  • Rectal bleeding?

Female:

  • Painful heavy periods?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

  • Stroke
  • Breathing difficulties
  • Bleeding from any orifice
  • Beware of bleeding in the skull symptoms:
    • Severe headache
    • Stiff neck
    • Vomiting
    • Change in mental state, such as confusion
    • Speaking difficulties, such as slurred speech
    • Changes in vision, such as double vision
    • loss of coordination and balance
    • Paralysis of some or all of the facial muscles

NHS Choices


Pregnancy


This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Haemophilia in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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  • Medscape

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  • Pharmaceutical Journal

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  • Healthline

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  • Medical News Today

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  • WebMD

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  • Cleveland Clinic

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  • Mayo Clinic

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  • Drugs.com

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  • National Organisation of Rare Diseases

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  • Verywell Health

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  • Fit for Travel

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  • DR Axe

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