This document provides information about hemophilia, an inherited bleeding disorder caused by deficient or defective clotting factors. It defines hemophilia and describes its causes, types (A, B, C), signs/symptoms, diagnostic evaluation, management, research, complications, and lifestyle recommendations. The main points are that hemophilia prevents proper blood clotting, leading to excessive bleeding from minor injuries; it is inherited through families via the X chromosome; and treatment involves replacing the missing clotting factor through medicines, therapies, and avoiding risky activities.

1. HEMOPHILIA
PRESENTED BY
R.PRIYA

2. INTRODUCTION
HEMOPHILIA IS AN INHERITED BLEEDING DISORDER IN WHICH A PERSON LACKS
OR HAS LOW LEVELS OF CERTAIN PROTEINS CALLED “CLOTTING FACTORS” AND
THE BLOOD DOESN’T CLOT PROPERLY AS A RESULT. THIS LEADS TO EXCESSIVE
BLEEDING. THERE ARE 13 TYPES OF CLOTTING FACTORS, AND THESE WORK WITH
PLATELETS TO HELP THE BLOOD CLOT. PLATELETS ARE SMALL BLOOD CELLS THAT
FORM IN YOUR BONE MARROW. ACCORDING TO THE WORLD FEDERATION OF
HEMOPHILIA (WFH), ABOUT ONE IN 10,000 PEOPLE ARE BORN WITH THIS DISEASE
.ACCORDING TO THE US CENTERS FOR DISEASE CONTROLAND PREVENTION (CDC), HEMOPHILIA
OCCURS IN APPROXIMATELY 1 IN 5,617 LIVE MALE BIRTHS. THERE ARE BETWEEN 30,000 – 33,000
MALES WITH HEMOPHILIA IN THE US*. MORE THAN HALF OF PEOPLE DIAGNOSED WITH HEMOPHILIAA
HAVE THE SEVERE FORM. HEMOPHILIAA IS FOUR TIMES AS COMMON AS HEMOPHILIA B. HEMOPHILIA
AFFECTS ALL RACES AND ETHNIC GROUPS.

3. DEFINITION
HEMOPHILIA MEDICAL CONDITION IN WHICH THE ABILITY
OF THE BLOOD TO CLOT IS SEVERELY REDUCED,
CAUSING THE SUFFERER TO BLEED SEVERELY FROM
EVEN A SLIGHT INJURY. THE CONDITION IS TYPICALLY
CAUSED BY A HEREDITARY LACK OF A COAGULATION
FACTOR, MOST OFTEN FACTOR VIII.
WHEN BLOOD CAN'T CLOT PROPERLY, EXCESSIVE
BLEEDING (EXTERNAL AND INTERNAL) OCCURS AFTER
ANY INJURY OR DAMAGE.

4. TYPES

5. TYPES
HEMOPHILIA IS CLASSIFIED BY ITS LEVELOF SEVERITY. HEMOPHILIA MAY BE MILD, MODERATE,OR SEVERE, DEPENDINGONTHE LEVELOFTHE
BLOOD CLOTTING FACTORS INTHE BLOOD.
THETHREE MAIN FORMSOF HEMOPHILIA INCLUDETHE FOLLOWING:
 HEMOPHILIAA: CAUSED BYA LACKOFTHE BLOOD CLOTTING FACTORVIII; APPROXIMATELY 85% OF HEMOPHILIACS HAVETYPE A DISEASE.
HEMOPHILIA A IS CAUSED BY A MUTATION IN THE GENE FOR FACTOR VIII, SO THERE IS DEFICIENCY OF THIS CLOTTING
FACTOR.
 HEMOPHILIA B: CAUSED BYA DEFICIENCYOF FACTOR IX. HEMOPHILIA B (ALSO CALLED CHRISTMAS DISEASE) RESULTS FROM A
DEFICIENCY OF FACTOR IX DUE TO A MUTATION IN THE CORRESPONDING GENE.
 HEMOPHILIA C: SOME DOCTORS USETHISTERMTO REFERTOA LACKOF CLOTTING FACTOR XIA CONDITION REFERRED TO AS
HEMOPHILIA C INVOLVES A DEFICIENCY OF CLOTTING FACTOR XI. THIS CONDITION IS MUCH RARER THAN HEMOPHILIA A AND
B AND TYPICALLY LEADS TO MILD SYMPTOMS
 VONWILLEBRAND DISEASE:A PARTOFTHE FACTORVIII MOLECULE KNOWN ASVONWILLEBRAND FACTOR OR RISTOCETINCOFACTOR IS
REDUCED.THEVONWILLEBRAND FACTOR INVOLVES HELPINGTHE PLATELETS (BLOOD CELLSTHAT CONTROL BLEEDING)ATTACHTOTHE
LINING OFAVEIN OR ARTERY.THIS MISSING FACTOR RESULTS IN PROLONGED BLEEDINGTIME BECAUSETHE PLATELETSARE UNABLETO
ATTACHTOTHEWALL OFTHEVESSELAND FORMA PLUGTO STOPTHE BLEEDING.THIS DISEASE IS SIMILARTO HEMOPHILIA, BUT IS NOT
USUALLYCALLED BYTHIS NAME. IT IS MORE COMMONAND USUALLY MILDERTHAN HEMOPHILIA.
 FACTOR V (PRONOUNCED FACTOR FIVE) IS A PROTEIN OF THE COAGULATION SYSTEM, RARELY REFERRED TO AS PROACCELERIN OR LABILE FACTOR. IN
CONTRAST TO MOST OTHER COAGULATION FACTORS, IT IS NOT ENZYMATICALLY ACTIVE BUT FUNCTIONS AS A COFACTOR. DEFICIENCY LEADS TO
PREDISPOSITION FOR HEMORRHAGE, WHILE SOME MUTATIONS (MOST NOTABLY FACTOR V LEIDEN) PREDISPOSE FOR THROMBOSIS

6. CAUSES
IMMUNE SYSTEM ATTACKS CLOTTING FACTORS IN THE BLOOD. IT CAN BE ASSOCIATED WITH:
•PREGNANCY
•AUTOIMMUNE CONDITIONS
•CANCER
MULTIPLE SCLEROSIS HEMOPHILIA IS AN INHERITED GENETIC CONDITION, MEANING IT IS PASSED DOWN THROUGH
FAMILIES. IT’S CAUSED BY A DEFECT IN THE GENE THAT DETERMINES HOW THE BODY MAKES FACTORS VIII, IX, OR XI.
THESE GENES ARE LOCATED ON THE X CHROMOSOME, MAKING HEMOPHILIA AN X-LINKED RECESSIVE DISEASE.
EACH PERSON INHERITS TWO SEX CHROMOSOMES FROM THEIR PARENTS. FEMALES HAVE TWO X CHROMOSOMES.
MALES HAVE ONE X AND ONE Y CHROMOSOME.
MALES INHERIT AN X CHROMOSOME FROM THEIR MOTHER AND A Y CHROMOSOME FROM THEIR FATHER. FEMALES
RECEIVE AN X CHROMOSOME FROM EACH PARENT. BECAUSE THE GENETIC DEFECT THAT CAUSES HEMOPHILIA IS
LOCATED ON THE X CHROMOSOME, FATHERS CAN’T PASS THE DISEASE TO THEIR SONS. THIS ALSO MEANS THAT IF A MALE
GETS THE X CHROMOSOME WITH THE ALTERED GENE FROM HIS MOTHER, HE’LL HAVE HEMOPHILIA. A FEMALE WITH ONE X
CHROMOSOME THAT HAS THE ALTERED GENE HAS A 50 PERCENT CHANCE OF PASSING THAT GENE TO HER CHILDREN,
MALE OR FEMALE.
A FEMALE WHO HAS THE ALTERED GENE ON ONE OF HER X CHROMOSOMES IS TYPICALLY CALLED A “CARRIER.” THIS
MEANS SHE MAY PASS THE DISEASE TO HER CHILDREN BUT SHE DOESN’T HAVE THE DISEASE HERSELF. THIS IS BECAUSE
SHE HAS SUFFICIENT CLOTTING FACTORS FROM HER NORMAL X CHROMOSOME TO AVOID SERIOUS BLEEDING ISSUES.
HOWEVER, FEMALES WHO ARE CARRIERS OFTEN HAVE AN INCREASED RISK OF BLEEDING.
MALES WITH AN X CHROMOSOME THAT HAS THE ALTERED GENE MAY PASS IT ON TO THEIR DAUGHTERS, MAKING THEM
CARRIERS. A FEMALE MUST HAVE THIS ALTERED GENE ON BOTH OF HER X CHROMOSOMES TO HAVE HEMOPHILIA.
HOWEVER, THIS IS VERY RARE.

7. CAUSES

8. PATHOPHYSIOLOGY

9. SIGNS AND SYMPTOMS
SPONTANEOUS BLEEDING CAN CAUSE THE FOLLOWING:
•BLOOD IN THE URINE
•BLOOD IN THE STOOL
•DEEP BRUISES
•LARGE, UNEXPLAINED BRUISES
•EXCESSIVE BLEEDING
•BLEEDING GUMS
•FREQUENT NOSEBLEEDS
•PAIN IN THE JOINTS
•TIGHT JOINTS
•IRRITABILITY (IN CHILDREN)
•A SEVERE HEADACHE
•VOMITING REPEATEDLY
•NECK PAIN
•BLURRED OR DOUBLED VISION
•EXTREME SLEEPINESS
•CONTINUOUS BLEEDING FROM AN INJURY

10. DIAGNOSTIC EVALUATION
BEFORE PREGNANCY
GENETIC TESTING AND COUNSELLING ARE AVAILABLE TO HELP DETERMINE THE RISK OF PASSING THE CONDITION ONTO A
CHILD. THIS MAY INVOLVE TESTING A SAMPLE OF TISSUE OR BLOOD TO LOOK FOR SIGNS OF THE GENETIC MUTATION THAT CAUSES
HEMOPHILIA.
DURING PREGNANCY
A PREGNANT WOMAN WITH A HISTORY OF HEMOPHILIA IN HER FAMILY CAN TEST FOR THE HEMOPHILIA GENE. SUCH TESTS INCLUDE:
•CHORIONIC VILLUS SAMPLING (CVS): A SMALL SAMPLE OF THE PLACENTA IS REMOVED FROM THE WOMB AND TESTED FOR THE
HEMOPHILIA GENE, USUALLY DURING WEEKS 11–14 OF PREGNANCY
•AMNIOCENTESIS: A SAMPLE OF AMNIOTIC FLUID IS TAKEN FOR TESTING, USUALLY DURING WEEKS 15–20 OF PREGNANCY
THERE IS A SMALL RISK OF THESE PROCEDURES CAUSING PROBLEMS SUCH AS MISCARRIAGE OR PREMATURE LABOR, SO THE
WOMAN MAY DISCUSS THIS WITH THE DOCTOR IN CHARGE OF HER CARE
AFTER BIRTH
IF HEMOPHILIA IS SUSPECTED AFTER A CHILD HAS BEEN BORN, A BLOOD TEST CAN USUALLY CONFIRM THE DIAGNOSIS. BLOOD FROM
THE UMBILICAL CORD CAN BE TESTED AT BIRTH IF THERE'S A FAMILY HISTORY OF HEMOPHILIA.

11. MANAGEMENT
•DESMOPRESSIN. IN SOME FORMS OF MILD HEMOPHILIA, THIS HORMONE CAN STIMULATE YOUR BODY TO RELEASE MORE CLOTTING
FACTOR. IT CAN BE INJECTED SLOWLY INTO A VEIN OR PROVIDED AS A NASAL SPRAY.
•CLOT-PRESERVING MEDICATIONS. THESE MEDICATIONS HELP PREVENT CLOTS FROM BREAKING DOWN.
•FIBRIN SEALANTS. THESE MEDICATIONS CAN BE APPLIED DIRECTLY TO WOUND SITES TO PROMOTE CLOTTING AND HEALING. FIBRIN
SEALANTS ARE ESPECIALLY USEFUL IN DENTAL THERAPY.
•PHYSICAL THERAPY. IT CAN EASE SIGNS AND SYMPTOMS IF INTERNAL BLEEDING HAS DAMAGED YOUR JOINTS. IF INTERNAL BLEEDING
HAS CAUSED SEVERE DAMAGE, YOU MAY NEED SURGERY.
•FIRST AID FOR MINOR CUTS. USING PRESSURE AND A BANDAGE WILL GENERALLY TAKE CARE OF THE BLEEDING. FOR SMALL AREAS OF
BLEEDING BENEATH THE SKIN, USE AN ICE PACK. ICE POPS CAN BE USED TO SLOW DOWN MINOR BLEEDING IN THE MOUTH.
•VACCINATIONS. ALTHOUGH BLOOD PRODUCTS ARE SCREENED, IT'S STILL POSSIBLE FOR PEOPLE WHO RELY ON THEM TO CONTRACT
DISEASES. IF YOU HAVE HEMOPHILIA, CONSIDER RECEIVING IMMUNIZATION AGAINST HEPATITIS A AND B.
HAEMOPHILIA A TREATED TRANEXAMIC ACID OR EPSILON AMINOCAPROIC ACID MAY BE GIVEN ALONG WITH CLOTTING FACTORS TO
PREVENT BREAKDOWN OF CLOTS.
PAIN MEDICINES, STEROIDS, AND PHYSICAL THERAPY MAY BE USED TO REDUCE PAIN AND SWELLING IN AN AFFECTED JOINT. IN THOSE
WITH SEVERE HEMOPHILIA A ALREADY RECEIVING FVIII, EMICIZUMAB MAY PROVIDE SOME BENEFIT.
IN RARE CASES A THIRD ROUTE OR TREATMENT IS USED, HIGH DOSES OF INTRAVENOUS IMMUNOGLOBULIN OR IMMUNOSORBENT THAT
WORKS TO HELP CONTROL BLEEDING INSTEAD OF BATTLING THE AUTO-ANTIBODIES.

12. RESEARCH
• A TRIAL COMPARING ON-DEMAND TREATMENT OF BOYS (< 30 MONTHS) WITH HEMOPHILIAC A
WITH PROPHYLACTIC TREATMENT (INFUSIONS OF 25 IU/KG BODY WEIGHT OF FACTOR VIII EVERY
OTHER DAY) IN RESPECT TO ITS EFFECT ON THE PREVENTION OF JOINT-DISEASES. WHEN THE
BOYS REACHED 6 YEARS OF AGE, 93% OF THOSE IN THE PROPHYLAXIS GROUP AND 55% OF THOSE
IN THE EPISODIC-THERAPY GROUP HAD A NORMAL INDEX JOINT-STRUCTURE
ON MRI.[36] PREVENTATIVE TREATMENT, HOWEVER, RESULTED IN AVERAGE COSTS OF $300,000 PER
YEAR. THE AUTHOR OF AN EDITORIAL PUBLISHED IN THE SAME ISSUE OF THE NEJM SUPPORTS
THE IDEA THAT PROPHYLACTIC TREATMENT NOT ONLY IS MORE EFFECTIVE THAN ON DEMAND
TREATMENT BUT ALSO SUGGESTS THAT STARTING AFTER THE FIRST SERIOUS JOINT-RELATED
HEMORRHAGE MAY BE MORE COST EFFECTIVE THAN WAITING UNTIL THE FIXED AGE TO
BEGIN. MOST HEMOPHILIACS IN THIRD WORLD COUNTRIES HAVE LIMITED OR NO ACCESS TO
COMMERCIAL BLOOD CLOTTING FACTOR PRODUCTS.

13. COMPLICATION
•DEEP INTERNAL BLEEDING. BLEEDING THAT OCCURS IN DEEP MUSCLE CAN CAUSE YOUR LIMBS TO
SWELL. THE SWELLING MAY PRESS ON NERVES AND LEAD TO NUMBNESS OR PAIN.
•DAMAGE TO JOINTS. INTERNAL BLEEDING MAY ALSO PUT PRESSURE ON YOUR JOINTS, CAUSING SEVERE
PAIN. LEFT UNTREATED, FREQUENT INTERNAL BLEEDING MAY CAUSE ARTHRITIS OR DESTRUCTION OF THE
JOINT.
•INFECTION. PEOPLE WITH HEMOPHILIA ARE LIKELIER TO HAVE BLOOD TRANSFUSIONS, INCREASING THEIR
RISK OF RECEIVING CONTAMINATED BLOOD PRODUCTS. BLOOD PRODUCTS BECAME SAFER AFTER THE
MID-1980S DUE TO SCREENING OF DONATED BLOOD FOR HEPATITIS AND HIV.
•ADVERSE REACTION TO CLOTTING FACTOR TREATMENT. IN SOME PEOPLE WITH SEVERE HEMOPHILIA,
THE IMMUNE SYSTEM HAS A NEGATIVE REACTION TO THE CLOTTING FACTORS USED TO TREAT BLEEDING.
WHEN THIS HAPPENS, THE IMMUNE SYSTEM DEVELOPS PROTEINS (KNOWN AS INHIBITORS) THAT
INACTIVATE THE CLOTTING FACTORS, MAKING TREATMENT LESS EFFECTIVE.

14. LIFE STYLE AND HOME REMIDIES
TO AVOID EXCESSIVE BLEEDING AND PROTECT YOUR JOINTS:
•EXERCISE REGULARLY. ACTIVITIES SUCH AS SWIMMING, BICYCLE RIDING AND WALKING
CAN BUILD UP MUSCLES WHILE PROTECTING JOINTS. CONTACT SPORTS — SUCH AS
FOOTBALL, HOCKEY OR WRESTLING — ARE NOT SAFE FOR PEOPLE WITH HEMOPHILIA.
•AVOID CERTAIN PAIN MEDICATIONS. DRUGS THAT CAN AGGRAVATE BLEEDING INCLUDE
ASPIRIN AND IBUPROFEN (ADVIL, MOTRIN IB, OTHERS). INSTEAD, USE ACETAMINOPHEN
(TYLENOL, OTHERS), WHICH IS A SAFER ALTERNATIVE FOR MILD PAIN RELIEF.
•AVOID BLOOD-THINNING MEDICATIONS. MEDICATIONS THAT PREVENT BLOOD FROM
CLOTTING INCLUDE HEPARIN, WARFARIN (COUMADIN, JANTOVEN), CLOPIDOGREL (PLAVIX),
PRASUGREL (EFFIENT), TICAGRELOR (BRILINTA), RIVAROXABAN (XARELTO), APIXABAN
(ELIQUIS), EDOXABAN (SAVAYSA) AND DABIGATRAN (PRADAXA).
•PRACTICE GOOD DENTAL HYGIENE. THE GOAL IS TO PREVENT TOOTH EXTRACTION,
WHICH CAN LEAD TO EXCESSIVE BLEEDING.
•PROTECT YOUR CHILD FROM INJURIES THAT COULD CAUSE BLEEDING. KNEEPADS,
ELBOW PADS, HELMETS AND SAFETY BELTS ALL MAY HELP PREVENT INJURIES FROM
FALLS AND OTHER ACCIDENTS. KEEP YOUR HOME FREE OF FURNITURE WITH SHARP
CORNERS.