Hemophilia - Causes, Symptoms, Diagnosis and Treatment

Hemophilia: A Bleeding Disorder

Dr.Shyam A Rathi profile Authored by Dr.Shyam A Rathi on 6 Mar 2015 - 12:58.


Hemophilia is a rare blood clotting disorder that restricts normal blood clotting, causing prolonged internal bleeding after an injury. Internal bleeding poses a severe risk (as compared to external cuts) by damaging surrounding organs and tissues including joints, brain, muscles, etc.This disorder occurs due to clotting disability (specific proteins responsible for regulating blood clotting process) caused due to genetic mutations. Hemophilia is a rare disorder but can lead to life-threatening events.

There are two major types of Hemophilia; Classic hemophilia (hemophilia A) and Christmas disease (hemophilia B), while hemophilia A is most common affecting almost 1 in 5,000 males across the globe. Although these both types can affect anyone, these are much more common in males as compared to females. Other forms of hemophilia include hemophilia C and acquired hemophilia (not caused by inherited gene mutations). 



Hemophilia is a genetic disorder caused due to alterations in the F8gene (causes hemophilia A) and F9 gene (causes hemophilia B). These genes F8 and F9 are responsible for the synthesis of clotting factors “factor VIII” and “factor IX”, respectively. As a result of alteration in these genes, either it produces insufficient clotting factor/s (or sometimes fails to produce any) or produces abnormal forms of clotting factors, thereby slowing down the blood clotting process.

Moreover, hemophilia C is caused due to insufficient clotting factor XI and acquired hemophilia results from an attack of auto-antibodies produced against clotting factor VII. In most of the cases, production of autoantibodies may be linked with pregnancy, any underlying immune disorders, cancer, and allergy to specific medications. While in rest, the cause of acquired hemophilia may remain unknown.

Almost 70 percent of hemophilia’s are inherited (acquired from parents), while almost 30 percent of hemophilia patients acquire this disorder as a result of sudden mutations in respective gene.

Inheritance of hemophilia varies with the specific underlying type of hemophilia:

Hemophilia A or B – It can be only passed from mother to her child, especially son, as the specific genes regulating respective factors are located inthe X chromosome.

Hemophilia C-  It can be passed from either of the parentsto both girls and boys.



Signs and symptoms of hemophilia may differ bythe number and level of abnormal clotting factors involved in the condition and extent of gene mutations. Usually, mildly dropped the level of clotting factors do not cause spontaneous bleeding, rather it is characterized by prolonged bleeding after a surgical procedure or injury.

The first episode of bleeding often occurs at the age of two years or later. Severe drop in clotting factors (due to significant mutations in the gene) often causes spontaneous bleeding; this is characterized by following signs and symptoms:

  • Uncontrolled prolonged bleeding on injury, cuts, post-surgery or during dental procedures like tooth extraction
  • Large or deep lesion
  • Abnormal bleeding after injection or following vaccination
  • Painful joints
  • Swelling in the joints
  • Appearance of blood in urine or stool
  • Frequent and prolonged nosebleeds
  • Irritation, especially in children

The occurrence of certain severe signs and symptoms of hemophilia may need emergency medical care. These may include:

  • Sudden pain in the joints
  • Feeling warmth in the joints and muscles
  • Excessive bleeding even from a minor injury or cut 
  • Severe headache that often lasts longer than usual
  • Feeling extremely tired
  • Frequent vomiting
  • Pain the neck region
  • Diplopia (double vision)

When to see a doctor?

Abnormal bleeding after the cut, injury or surgery that lasts for longer is usually the first alarming sign to see your doctor immediately for further consultation. Moreover, it is advised to see a doctor immediately if:

  • You notice multiple emergency signs (as mentioned above)
  • Excessive and easy bruising, especially in children
  • Have a family history of hemophilia and planning to conceive




Abnormally prolonged bleeding is enough to suspect hemophilia while experts often take certain tests to confirm the diagnosis. Sometimes, milder forms of the disorder may remain undiagnosed for a long time, until one undergoes surgical procedure and experiences prolonged bleeding. These may include:

  • Assessment of history: family history of bleeding, occurrence of other signs, etc.
  • Physical examinations
  • Blood tests: specific to clotting factors
  • Genetic testing:genetic alterations


Following are the common complications associated with hemophilia:

  • Excessive internal bleeding that may cause swelling in the muscles that often leads to severe pain and numbness.
  • Arthritis
  • Extensive damage or injury to the joints
  • Increased risk of having an infection due to frequent blood transfusions
  • A variety of adverse reactions to the treatment received 

As such, none of the treatments guarantee the cure of this disorder, but proper and timely self and medical care may help one to lead productive lives. Treatment for hemophilia can be divided into two categories: Ongoing treatments and treatments for bleeding control during a hemophilia episode. These may include:

Approaches towards bleeding episodes:

  • Treating milder form of hemophilia A – Treatment of mild hemophilia A often involves hormone injection (i.v.) or as a nasal medication. The hormone, Desmopressin stimulates excess production of deficient clotting factors and stops bleeding.
  • Treating moderate or severe hemophilia A/ B: Treatment of severe or moderate hemophilia A and / or B often involves infusion of recombinant clotting factors. Recombinant clotting factors are obtained from donated blood of healthy and matching individual.
  • Treating hemophilia C: Treatment of hemophilia is not easily available and requires plasma infusions.
    Continuous treatment approaches: To reduce bleeding time, complications and hospital stay, the approaches may include-Regular hormone infusion: Desmopressin (DDAVP) may be given regularly.
  • Drugs and medications: Medications like antifibrinolytics may be prescribed, which helps to prevent clot from dissolving. Further, a medicine like fibrin sealants may be appliedtoa cut or injury to speed up blood clotting.
  • Physical therapy:To strengthen muscles and joints.
  • Gene therapy: Hemophilia B can be treated using gene therapy where F9 gene is inserted (via i.v.) into the adeno-associated virus-8 vector which further produces factor IX. As there are chances of rejection, treatment demands the suppression of immune response using steroids.

Lifestyle interventions and home remedies:

  • First aid box should be carried along to manage minor cuts and injury
  • Use ice packs
  • Use ice pops for dental injury, or gum bleeding
  • Get vaccinated against hepatitis A and B
  • Exercise regularly (talk to the experts to choosethe right form of exercise for you)
  • Avoid contact sports like wrestling, football, etc.
  • Avoid certain OTC pain relievers, e.g. Aspirin and Ibuprofen
  • Avoid anticoagulant medications like heparin, warfarin, etc.
  • Maintain a good oral hygiene
  • Protect yourself and/ or your child from injuries
  • Maintain a healthy weight

Diet and nutrition recommendations

Eat these:

  • Whole grains
  • Fresh fruits and vegetables
  • Food low in solid-fats
  • Foods with added sugars
  • Sodium rich foods
  • Beans, nuts and seeds
  • Foods rich in vitamin K e.g. Spinach, oats, broccoli, wheat breads, soybeans, etc.
  • Foods rich in vitamin C, e.g.Blueberries, kiwi, variety of fruits and vegetables, oranges, etc.
  • Foods rich in calcium, e.g.Milk and other dairy products, soy milk, kale, asparagus, broccoli, etc.
  • Take supplements containing multiple vitamins, minerals, etc.

Avoid these:

  • Snack foods high in fat and calories
  • Soft drinks
  • Deep fried and processed foods
  • Avoid sleeping or nap in day time
  • Avoid sauces, heavy gravies and toppings
  • Butter and lard.



*Disclaimer This is not medical advice. The content is for educational purposes only. Please contact your doctor for any health care issues.