HEMOPHILIA A

WHAT IS HEMOPHILIA A?

• A hereditary bleeding disorder
• Caused by a lack of blood clotting
• Without blood clotting, blood can't stop bleeding
• Factor VIII
• Essential blood-clotting protein

SYMPTOMS INCLUDE THE FOLLOWING

• Prolonged bleeding from lacerations or surgery
• Bruising
• Spontaneous bleeding
• Blood in urine or stool
• Bleeding into joints with swelling and pain

WHAT ARE THE CAUSES?

• Inherited by X-linked recessive trait
• Defective gene located on the X chromosome
• Females have 2 copies of X chromosome
• Males only have one making them more at risk
• Can also be caused by family history of bleeding

INHERITING HEMO A

• A woman is a carrier if she has a defective factor 8 gene
• Daughters and sons of such women have 50/50 chance of inheretance
• If the father is a carrier there is a 100% chance his daughters will be carriers
• If the mom is a carrier and the dad has hemo a, half of the time the son will have it
• The daughters will either be a carrier or have hemo a

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TREATMENTS

• Based on severity, weight, height, and site of bleeding
• Desmopressin (DDAVP) helps with the release of f8
• F8 is stored within blood vessel lining
• The introduction of f8 concentrates at first sight of bleeding
• Mainly include replacing missing clotting f8

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DIAGNOSING HEMO A

• Children and adults can have blood tests and physical exams
• How long your blood takes to clot
• Whether blood has low levels of clotting factors
• Whether those clotting factors are completely missing
• Pregnant woman can have unborn children tested as early as 12 weeks

GENETIC COUNSELING

• Can help make informed decisions on childbirth
• Includes addressing of wide ranging issues
• Offers diagnostic and carrier tests
• Personal perceptions and culture can influence the process
• Varies on facility availability for hemo care

HEMO A CAN EFFECT EVERYONE

APPLICATION OF RESEARCH

• the UNC School of Medicine and the Medical College of Wisconsin
• Usage of plasmapheresis machine and a blood-enrichment technique
• This involves the isolation of precursor platelets from the blood
• They then engineered those platelets to release f8 protein
• Scientists are hoping to transfer from dogs to humans

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