Hemophilia – an inherited bleeding disorder

Posted Thursday, June 20, 2019

Did you know? People with hemophilia can live normal lives by avoiding activities that may cause injury or trauma.

Hemophilia is a genetic disorder that affects about 1 in every 5,000 male births.

 

Introduction

Hemophilia is a rare disorder that causes blood to clot abnormally. After an injury, this disorder can cause one to bleed longer than normal. It can be life-threatening due to spontaneous bleeding. Please use this guide to understand hemophilia cause, symptoms, diagnosis, and treatment.

Cause

This disorder is caused by a mutation on the X chromosome. It is more likely that a mother passes the defective gene to her children; her son is affected and her daughter is a carrier. Rarely the condition can be acquired from:

  • Autoimmune disorders
  • Cancer
  • Multiple sclerosis 

Symptoms

Depending on the level of clotting factors, the symptoms may vary and arise at different ages. Those affected, and some carriers, may experience:

  • Swelling or tightness in the knees, elbows, or ankles
  • Blood in urine or stool
  • Large, deep bruises
  • Excessive bleeding from cuts, injuries, or surgical/dental work
  • Bleeding after a vaccination
  • Unexplained irritability in babies
  • Frequent and uncontrollable nosebleeds

Diagnosis

To diagnose hemophilia, blood tests are performed to see if blood is clotting correctly. Additional tests can be ordered to diagnose the cause of the disorder.  Those with a family history of hemophilia can request for a blood test to be performed on their baby as soon as after birth.

Treatment

There is not yet a known cure for this disorder. Several factors must be considered to provide proper treatment for hemophilia. Factors include the level of clotting and how severe the condition is.  Treatment may include:

  • Physical therapy
  • First aid for minor cuts
  • Clot-preserving medication
  • Infusing prophylaxis
  • Injections of clotting factor or plasma

For more information on hemophilia and other bleeding disorders, please visit www.hemophilia.org

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References:

https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

https://www.cdc.gov/ncbddd/hemophilia/facts.html

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