Haemophilia

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             Definition

-          The term “Haemophilia” comes from the words (haîma)  meaning 'blood' and (philía)  meaning 'love of' so it literally loves your blood it sucks it out!

-          Haemophilia is a rare inherited genetic disorder that is characterized by causing excessive bleeding by preventing your body from forming blood clots due to absence of proteins known as clotting factors.

-          Even a minor injury may cause you to bleed heavily and bruising would become more common.

Types of Haemophilia

There are 13 blood clotting factors named 1-13 that work like a chain to clot and prevent bleeding .

The disease has 2 major types based on absence of these factors  :  Hemophilia A → lack of factor VIII ( anti haemophilic factor)

-            Hemophilia B → lack of factor IX(also known as Christmas factor ) ( both of which are X linked  diseases and more likely to affect men )

-          Other less common types include :

-          Haemophilia C : lack of factor XI and much rarer than A or B

-          Acquired haemophilia : Not inherited  but caused later in life by the body producing antibodies against clotting factor .

Symptoms of haemophilia

  • -Easy bruising
  • Prolonged bleeding (cuts, surgery, dental work)
  • Frequent nosebleeds
  • Bleeding gums
  • Nose bleeds without a known cause
  •  

Internal bleeding:

  • Joint bleeding (hemarthrosis) → pain, swelling, stiffness
  • Muscle bleeding → swelling/hematoma
  • Blood in urine or stool

Severe cases:

  • Spontaneous bleeding (no injury)

·         Brain bleeding → seizures, paralysis, this may not evident at 1st but if the patient is suffering from persistent headaches, sensitivity to light and dizziness it might be an indicator. Since this is a life threatening stage of the disease visiting a physician is compulsory.

In females:

-          Prolonged menstral bleeding

-          Bleeding excessively after childbirth

 

-          A lot of damage in haemophilia comes from missed early bleeds, especially in joints.

 By the time swelling is obvious, damage may have already started. The dangers aren’t obvious , patients are advised to check with physicians even when detecting subtle signs as it may cause complications like :

-Anemia

-Dental complications

-Arthritis

-Anxiety or depression

-chronic pain

- increased risk of heart disease

- And on rarer cases HIV and Hepatitis

  Causes:

-          The most common cause is a genetic mutation which is inherited via the X chromosome. Men are more likely to acquire it because its enough for them to have it on 1 X chromosome, while females, can have 1 copy of it and still not get the disease because the other X chromosome masks the X linked disease.

Prevention and Treatment:

-Prevention is not possible when it comes to this disease but some precaution measures can be taken like avoiding blood thinning medications , and coming in contact with infectious blood products.

- There is also no known cure for the disease but common treatments include :

-          Factor transfusion/replacement therapy: which involves injecting missing factors into the bloodstream

       Gene therapy :

-          One-time treatment delivering working gene ,Can increase clotting factor production long-term

-          Medication drugs

-          Emicizumab us on the rise for being  game-changing treatment ,A non-factor therapy that mimics factor VIII

 

 

 


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