HEMOPHILIAHanisha Erica P. Villaester

OVERVIEW

HEALTHY

HEMOPHILIA

OVERVIEW

HISTORY OF HEMOPHILIA

"royal disease“ hemophilia gene was passed from Queen Victoria of England in 1837 to the ruling families of Russia, Spain, and Germany

In 1828, Dr. Schonlein first coined the term “haemorrhaphilia” for the hemorrhagic condition

HEMOPHILIA IN THE ROYAL FAMILY

WHAT IS HEMOPHILIA?

Hemophilia- “love of bleeding” Inherited hemorrhagic disorder caused by deficiency of factor VIII, factor IX or factor XI

X – Linked Recessive Inheritance Affects males only, females act as carriers

***Female who carry a single mutated gene are generally asymptomatic

COAGULATION CASCADE

OVERVIEW

TYPES OF HEMOPHILIA

DISEASE FACTOR DEFICIENCY INHERITANCE

HEMOPHILIA A VIII X-LINKED RECESSIVE

HEMOPHILIA B IX X-LINKED RECESSIVE

HEMOPHILIA C XI AUTOSOMAL RECESSIVE

PARAHEMOPHILIA (OWREN’s

DISEASE)V AUTOSOMAL

RECESSIVE

VON WILLEBRAND

DISEASE VIII:vW Autosomal dominant

HEMOPHILIA AX-linked Inherited DiseaseLack or abnormal production of FACTOR VIII

Factor VIII:C or antihemolytic factor

Most common : 85%1 in 5000-10000 males

60% with severe disease

Activity < 1%

HEMOPHILIA A

CLASSIFICATION

DISTRIBUTION

CLOTTING FACTOR

ACTIVITYSEVERE

HEMOPHILIA 50% <1%

MODERATE HEMOPHILIA 10% 1-5%

MILD HEMOPHILIA 30-40% 5-40%

HEMOPHILIA A

TWO MAJOR TYPES OF BLEEDING1.Spontaneous Bleeding• Severely affected haemophiliacs• Bleeding into muscles

(hematomas)• Bleeding into joints (hemarthrosis)• May result in crippling

2. Post traumatic Bleeding• Produce large hematomas• Dangerous: causes increase

pressure on nerves and blood vessels

• Vascular obstruction may develop into local gangrene

HEMOPHILIA B

Factor IX deficiency10% of all hemophilias

1 in 25000-35000 malesBleeding is not as severe

Factor IX is more stable than factor VIII

30% spontaneous mutation50% with mild to moderate disease

Activity > 1%Christmas disease (1952)

HEMOPHILIA C Rosenthal Syndrome

Least common: less than 5%Factor XI DeficiencyAutosomal Recessive Inherited Disease

Common among Ashkenazi Jews

CLINICAL MANIFESTATION

First discovered during infancy or early childhood

Bleeding into muscle Deep bruises after receiving shots Prolonged bleeding after male child is circumcised

Prolonged bleeding after umbilical cord is cut

CLINICAL MANIFESTATION

Bleeding into joints/muscle causes pain and swelling

Frequent nose bleeds and abnormal bleeding after injury or surgery

Blood found in urine and easy bruising

GENERAL SYMPTOMSCLINICAL MANIFESTATION

BLEEDING INTO MUSCLESSymptoms:

Bruising Swelling Muscle hardening Tenderness Pain

Especially when large muscle groups are affected

CLINICAL MANIFESTATION

CLINICAL MANIFESTATION

COMPARTMENT SYNDROME

Complication of bleeding to in certain muscles which puts pressure on arteries and nerves

Symptoms:Weakness and paleness in affected extremity

Swelling and numbnessSevere pain during movement Inability to move an extremity

PARALYSIS

TREATMENT

OVERVIEWGenetic

- Only women can be carriers- Can be determined by a blood

test Treatment starts at birthReplacement Therapy of deficient factor

Fresh frozen plasma Freeze dried purified concentrate of coagulation factors

HEMOPHILIA CARE Children with Hemophilia can

learn to self-administer their replacement clotting factors as young as 10 years old

CURRENT RESEARCH

FDA, Food and Drug Association has approved a new drug Drug containing clotting factor can be kept at room temperature

makes it easier for small hospitals who lack of freezers

Negative factor: can only be kept for two years instead of three

THERAPY

. .

Short TermLong Term Short Term

• The people have to take medicine for the rest of their lives.

• Have to be very careful about injuries

• Have to learn to recognize all of the symptoms of their

disease

Thank you!