"To Catch A Thief"

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KRISTI BOEKER

MARCH 7, 00

4TH

HEMOPHILIA RESEARCH PAPER

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HEMOPHILIA IS A HEREDITARY DISEASE, IN WHICH THE BLOODS ABILITY TO CLOT IS MARKEDLY IMPAIRED. WHEN A NORMAL PERSON RECEIVES A CUT OR OTHER INJURY, BLOOD FLOWING FROM THE DAMAGED BLOOD VESSELS RAPIDLY FORMS A CLOT THAT SERVES TO STOP THE BLEEDING. WHEN A HEMOPHILIAC RECEIVES A CUT OR OTHER INJURY, HE MAY BLEED FOR HOURS OR EVEN DAYS. ALTHOUGH SOME HEMOPHILIACS LIVE FAIRLY NORMAL LIVES, OTHERS ARE SEVERLY DEBILITATED AND MANY DIE PREMATURELY. THIS DISEASE AFFECTS MOSTLY MALES. WOMEN WITH A BLEEDING DISORDER MAY HAVE FREQUENT MISCARRIAGES, ESPECIALLY DURING THE FIRST TRIMESTER. DISEASES IN THIS CATEGORY INCLUDE HEMOPHILIA AHEMOPHILIA BVON WILLEBRANDS DISEASE. THERE ARE TWO BASIC TYPES OF HEMOPHILIA. IN HEMOPHILIA A, WHICH IS ALSO CALLED CLASSICAL HEMOPHILIA, A PARTICULAR BLOOD CLOTTING FACTOR, KNOWN AS THE ANTHEMOPHILIC GLOBULIN, AHG, OR FACTOR VIII, IS ABSENT OR GREATLY DIMINISHED. IN HEMOPHILIA B, A DIFFERENT CLOTTING FACTOR, CALLED PLASMA THROMBOPLASTIN COMPONENT, PTC, OR FACTOR IX, IS LACKING OR DEFICIENT. HEMOPHILIA B IS SOMETIMES CALLED CHRISTMAS DISEASE, AFTER THE FAMILY NAME OF THE FIRST PATIENT WHO WAS FOUND TO HAVE THIS TYPE OF HEMOPHILIA.

BOTH HEMOPHILIA A AND HEMOPHILIA B ARE INHERITED DISEASES THAT ARE TRANSMITTED FROM ONE GENERATION TO THE NEXT BY A RECESSIVE GENE LOCATED ON THE X CHROMOSOME, ONE OF THE TWO SEX CHROMOSOME. BECAUSE MEN HAVE ONLY ONE X CHROMOSOME, THE EFFECT OF A RECESSIVE GENE ON THE CHROMOSOME CANNOT BE COUNTERBALANCED, AND NEARLY ALL HEMOPHILIACS ARE MALES. WOMEN HAVE TWO X CHROMOSOMES, SO THAT EVEN IF A WOMAN CARRIES A GENE FOR HEMOPHILIA ON ONE X CHROMOSOME, IT IS VERY LIKELY THAT HER OTHER X CHROMOSOME WILL CARRY A GENE FOR NORMAL BLOOD CLOTTING, AND THE NORMAL GENE, WHICH IS DOMINANT, WILL PREVENT HER FROM HAVING THE DISEASE. HEMOPHILIA, THEN, IS EXTREMELY RARE IN WOMEN, BUT A WOMAN CARRYING A GENE FOR THE DISEASE MAY TRANSMIT IT TO HER SONS, AND HER DAUGHTERS MAY TRANSMIT IT TO THEIR SONS.

AN INDIVIDUAL WITH HEMOPHILIA A HAS POOR BLOOD CLOTTING. THE MISSING CLOTTING PROTEIN, WHICH IS CALLED FACTOR VIII, CAUSES THE PROBLEM. HEMOPHILIA A IS ONE OF THE MOST COMMON INHERITED BLEEDING DISORDERS. IT AFFECTS PRIMARILY MEN. PROBLEMS USUALLY START IN EARLY CHILDHOOD. SEVERE CASES WILL CAUSE BLEEDING PROBLEMS, BRUISING WITHOUT INJURY, NOSEBLEEDS, JOINT BLEEDING LEADING TO ARTHRITIS AND DEFORMITIES, INTERNAL AND BOWEL BLEEDING, BLOOD IN THE URINE. IN SOMEONE WITH MILD HEMOPHILIA, EXCESSIVE BLEEDING MAY OCCUR ONLY WITH INJURY OR SURGERY. HEMOPHILIA A IS DIAGNOSED BY MEASURING THE LEVEL OF FACTOR VIII IN THE BLOOD. OTHER BLOOD TESTS MAY ALSO BE PERFORMED TO MAKE SURE THERE IS NOT ANOTHER CLAUSE FOR LOW FACTOR VIII LEVELS. IF YOUR DOCTOR SUSPECTS THAT YOU HAVE HEMOPHILIA, THE DOCTOR WILL PERFORM BLOOD TESTS TO EXAMINE HOW WELL YOUR BLOOD COAGULATES. NORMALLY, WHEN BLEEDING BEGINS, A COMPLEX SERIES OF CHEMICAL EVENTS PRODUCES A PLUG TO STOP THE BLEEDING; THIS PLUG IS CALLED A FIBRIN CLOT. DIAGNOSIS OF HEMOPHILIA USUALLY INVOLVES CAREFULLY CONTROLLED EVALUATION OF THE LENGTH OF TIME IT TAKES BLOOD, MIXED WITH SPECIFIC CHEMICALS IN A TEST TUBE, TO PRODUCE A FIBRIN CLOT. IF SUCH SCREENING TESTS ARE ABNORMAL, OTHER BLOOD TESTS ARE RUN TO DETERMINE THE AMOUNTS OF FACTORS VIII AND IX IN THE BLOOD. THESE TESTS HELP DOCTORS DIAGNOSE THE TYPE OF HEMOPHILIA AND ITS SEVERITY.

A PERSON WIHT HEMOPHILIA A MAY RECEIVE REGULAR TRANSFUSIONS OF FACTOR VIII. OTHER TRANSFUSIONS MAY BE NEEDED IN AN EMERGENCY OR BEFORE SURGERY. MEDICATIONS MAY ALSO BE NEEDED FOR TREATMENT OF THE CONDITION OR COMPLICATIONS. FOR EXAMPLE, A MEDICATION CALLED DDAVP MAY INCREASE FACTOR VIII LEVELS. FACTOR VIII IS GIVEN BY SLOW, INTRAVENOUS INFUSION. A PERSON CAN DO THIS AT HOME. A PERSON WHO REQUIRES FREQUENT INFUSIONS OFTEN HAS A CENTRAL LINE SURGICALLY IMPLANTED. THIS IS A CATHETER THAT GOES INTO ONE OF THE LARGE VEINS, AND PROVIDES A PAINLESS WAY TO GIVE THE FACTOR VIII. SERIOUS HEMORRHAGE MAY REQUIRE TREATMENT IN THE HOSPITAL. SOME PERSONS HAVE IMMUNE SYSTEM PROBLEMS THAT MAKE HEMOPHILIA A WORSE. THESE PERSONS MAY REQUIRE TREATMENT WITH MEDICATIONS TO SUPPRESS THE IMMUNE SYSTEM. CHRONIC JOINT DEFORMITY DUE TO HEMOPHILIA IS BECOMING LESS COMMON. HOWEVER, SOME INDIVIDUALS REQUIRE OPERATIONS TO JOINT PROBLEMS. THE MOST COMMON SITES FOR SURGERY INCLUDE THE WEIGHT BEARING BONES OF THE HIPS AND KNEES. ALL MEDICATIONS HAVE SIDE EFFECTS, INCLUDING ALLERGIC REACTIONS AND STOMACH UPSET. SURGERY CARRIES A RISK OF BLEEDING, INFECTION OR ALLERGIC REACTION TO THE ANESTHESIA. BEFORE CURRENT SCREENING PROCEDURES, A FACTOR VIII TRANSFUSION CARRIED A RISK OF HIV OR HEPATITIS. CURRENTLY WITH PRESENT SCREENING TECHNIQUES FOR FACTOR VIII PRODUCTS, THE RISK OF ACQUIRING HEPATITIS AND HIV IS VERY LOW. INDIVIDUALS WHO HAVE ONLY BEEN RECEIVING BLOOD PRODUCTS IN THE PAST 10 YEARS HAVE A VERY LOW RISK OF ACQUIRING HEPATITIS AND HIV FROM FACTOR VIII. LIFELONG TREATMENT AND MONITORING ARE GENERALLY REQUIRED.

HEMOPHILIA A IS A GENETIC DISEASE. THE DISEASE CANNOT BE PREVENTED IN A PERSON WHO IS BORN WITH THIS GENE. GENETIC SCREENING CAN TELL INDIVIDUALS IF THEY ARE CARRIERS OF THE DISEASE. SINCE HEMOPHILIA A IS A TREATABLE DISEASE, GENETIC COUNSELING BEFORE OR DURING PREGNANCY CAN BE HELPFUL TO COUPLES WITH A FAMILY OF THE DISEASE. AN UNBORN FETUS CAN ALSO BE TESTED FOR HEMOPHILIA. THE TESTING CAN BE DONE AS EARLY AS THE FIRST TRIMESTER, WITH CHORIONIC VILLI SAMPLING OR AMNIOCENTESIS. THESE TESTS CARRY A SMALL RISK OF CAUSING A MISCARRIAGE. LONG TERM EFFECTS OF HEMOPHILIA A ARE USUALLY ONLY SEEN WITH MODERATE TO SEVERRE DISEASE. POSSIBILITIES INCLUDES ANEMIA, OR SHORTAGE OF RED BLOOD CELLS BLEEDING INTO THE BRAIN, RESULTING IN STROKES AND MENTAL DISABILITIES DAMAGE FROM BLEEDING. THIS INCLUDES JOINT DEFORMITY; ARTHRITIS, AND MUSCLE STIFFNESS ABNORMAL IRON DEPOSITS IN THE LIVER AND OTHER ORGANS, WHICH MAY CAUSE DAMAGE. THIS IS NOT A CONTAGIOUS DISEASE SOMEONE WITH HEMOPHILIA OR A FAMILY HISTORY OF HEMOPHILIA MAY FIND GENETIC COUNSELING HELPFUL. THIS WILL DETERMINE THE RISK OF PASSING ON THE ABNORMAL GENE TO THE CHILDREN OR GRANDCHILDREN. AN INDIVIDUAL WITH SEVERE DISEASE MAY NEED TO HAVE FACTOR VIII LEVELS CHECKED OFTEN. OTHERS MAY REQUIRE ONLY PERIODIC MONITORING.

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