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


Diagnosis Test

  • Activated partial thromboplastin time (aPTT) test – allows for an immediate screening of the intrinsic pathway (factors VIII [FVIII], IX, XI, and XII) with rapid results.

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.

Acquired haemophilia (condition caused from other diseases/condition /medication) i.e.

Medications

  • Penicillins
  • Cephalosporins
  • Interferons

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 can lead to:

  • Severe soft tissue and mucosal hemorrhages

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).

  • Medical News Today

    Medical news and health news headlines posted throughout the day, every day.

  • Medscape (Professional level)

    Latest medical news and expert commentary in your specialty as well as disease information.

  • Healthline

    Medical Information and health advice you can trust

  • EveryDay Health

    Wellness inspired. Wellness enabled.

  • Pharmaceutical Journal (Professional level)

    The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.

  • NHS

    Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).

  • WebMD

    Better Information. Better Health.

  • Cleveland Clinic

    Pushing the Standards of care.

  • Mayo Clinic

    No.1 Hospital in the Nation (America)

  • Drugs.com

    Know more. Be sure.

  • National Organisation of Rare Diseases

    NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.

  • Verywell Health

    Know more. Fell better.

  • Nathnac

    Travel health guidance for health professionals advising travellers and for travellers going overseas from the UK.

  • DR Axe

    Health and fitness news. Recipes, Natural Remedies

  • Better health - NHS

    Healthy changes start with little changes. Whether you want to lose weight, drink less alcohol, get active or quit smoking, you have access to lots of free tools and support through Better Health. You can also find simple ways to lift your mood with Every Mind Matters.

    There has never been a better time to kickstart your health. Let’s do this!