Early symptoms of hemophilia

hemophiliaThe early symptoms of hemophilia may become apparent as early as circumcision, if the baby bleeds excessively after the surgical removal of the foreskin. Otherwise children who bruise easily may suffer from this inherited condition in which blood does not clot properly. The first instance of bleeding usually takes place by age 2.

Common hemophilia symptoms include:

  • Unexplained and heavy bleeding from minor cuts or injuries, or following surgery or dental work.
  • Many large or deep bruises.
  • Bleeding unusually after vaccination.
  • Pain, swelling, or tightness in the joints.
  • Bloody urine or stool.
  • Unexplained nosebleeds.
  • Unexplained irritability in infants.

The severity of symptoms varies depending on the person’s clotting-factor level.

Type of hemophilia

Clotting factor

A

Low levels of clotting factor VIII

B

Low levels of clotting factor IX

 

Hemophilia A is the most common type, affecting 8 in every 10 people who have this bleeding disorder. By way of comparison, people without hemophilia have 100% factor VIII activity, people with mild hemophilia have 5% to 40% of normal clotting factor, people with moderate hemophilia have 1% to 5% of normal clotting factor, and people with severe hemophilia have less than 1% of normal clotting factor. A slightly reduced clotting-factor level causes bleeding only after surgery or trauma only, whereas severe deficiency may cause spontaneous bleeding. The cause of hemophilia is hereditary. The defective genes that affects how the body produces blood clotting factors VIII and IX are found on the X chromosomes – of which females have two, while males have one plus a Y chromosome. A man with a hemophilia gene on his X chromosome will develop the disorder. A woman with a hemophilia gene on only one X chromosome is a ‘carrier.’

Inheritance pattern 1

Father

Mother

No hemophilia/normal copy of gene.

Carrier/one copy of hemophilia gene.

Daughter

Daughter

Son

Son

No hemophilia/normal copy of gene.

Carrier/one copy of hemophilia gene.

No hemophilia/normal copy of gene.

Hemophilia/one copy of hemophilia gene.

 

Inheritance pattern 2

Father

Mother

Hemophilia/one copy of hemophilia gene.

No hemophilia/normal copy of gene.

Daughter

Daughter

Son

Son

Carrier/one copy of hemophilia gene.

Carrier/one copy of hemophilia gene.

No hemophilia/normal copy of gene.

No hemophilia/normal copy of gene.

 

In rare cases hemophilia can acquired as opposed to hereditary. That is, the person does inherit it from their parents but develops it at one point in their lives as a result of forming antibodies that target the clotting factors in the bloodstream.

Back to the early symptoms of hemophilia, the bleeding characteristic of this disorder can occur externally or internally.

Symptoms of external bleeding

  • Bleeding in the mouth from a cut or bite or from losing a tooth.
  • Nosebleeds for no apparent reason.
  • Bleeding heavily from a minor cut.
  • Bleeding from a cut that continues after stopping for a while.

Symptoms of internal bleeding

  • Blood in urine.
  • Blood in stool.
  • Large bruises.

Bleeding internally is a greater concern than externally, in particular in the knees, ankles, and elbows which can cause tightness, loss of movement, and intense pain in the joints. Internal bleeding can also damage organs and tissues.

Other complications include:

  • Deep internal bleeding that causes the limbs to swell and press on the nerves, leading to numbness or pain.
  • Arthritis or destruction of the joint.
  • Infection.

There is no cure for hemophilia but there are treatments for bleeding episodes as well as ongoing care.

Hemophilia treatment

For bleeding disorders

  • Desmopressin.
  • Recombinant clotting factors.
  • Clotting factors derived from donated human blood.
  • Plasma infusions.

Ongoing

  • Regular infusions of DDAVP or clotting factor.
  • Antifibrinolytics.
  • Fibrin sealants.
  • Physical therapy.
  • First aid for minor cuts.

People can live with the early symptoms of hemophilia as long as they take measures to prevent adverse events and cope with the disorder, for example:

  • Swimming, bicycle riding and walking to build muscle and protect the joints. Football, hockey, wrestling, and other contact sports are not recommended.
  • Using acetaminophen instead of aspirin or ibuprofen for pain.
  • Avoiding heparin, warfarin, clopidogrel, prasugrel and other blood-thinning medications.
  • Practicing dental hygiene to prevent tooth extraction.
  • Wearing kneepads, elbow pads, helmets, and safety belts to prevent injuries.
  • Wearing a medical bracelet.

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