HEMOPHILIA DOCTOR’S

REPORT
SYMPTOMS, TREATMENT, CURABILITY..
 DOCTOR’S REPORT:
SYMPTOMS
• BLEEDING GOES ON FOR A LONG TIME AFTER DRAWING BLOOD
AND HEEL STICKS (PRICKING THE INFANT’S HEEL TO DRAW
BLOOD FOR NEWBORN SCREENING TESTS).
• BLEEDING IN THE HEAD (SCALP OR BRAIN) AFTER A DIFFICULT
DELIVERY OR AFTER USING SPECIAL DEVICES OR INSTRUMENTS
TO HELP DELIVER THE BABY (E.G., VACUUM OR FORCEPS).
• UNUSUAL RAISED BRUISES OR LARGE NUMBERS OF BRUISES. IF A
CHILD IS NOT DIAGNOSED WITH HEMOPHILIA DURING THE
NEWBORN PERIOD, THE FAMILY MIGHT NOTICE UNUSUAL
BRUISING ONCE THE CHILD BEGINS STANDING OR CRAWLING.
• THOSE WITH SEVERE HEMOPHILIA CAN HAVE SERIOUS BLEEDING
PROBLEMS RIGHT AWAY. THUS, THEY OFTEN ARE DIAGNOSED
DURING THE FIRST YEAR OF LIFE. PEOPLE WITH MILDER FORMS
OF HEMOPHILIA MIGHT NOT BE DIAGNOSED UNTIL LATER IN
LIFE.
 DOCTOR’S REPORT: TREATMENT OPTIONS

• THE BEST WAY TO TREAT HEMOPHILIA IS TO REPLACE THE MISSING BLOOD CLOTTING FACTOR SO
THAT THE BLOOD CAN CLOT PROPERLY. THIS IS TYPICALLY DONE BY INJECTING TREATMENT
PRODUCTS, CALLED CLOTTING FACTOR CONCENTRATES, INTO A PERSON’S VEIN. CLINICIANS
TYPICALLY PRESCRIBE TREATMENT PRODUCTS FOR EPISODIC CARE OR PROPHYLACTIC CARE.
• EPISODIC CARE IS USED TO STOP A PATIENT’S BLEEDING EPISODES; PROPHYLACTIC CARE IS USED
TO PREVENT BLEEDING EPISODES FROM OCCURRING.
• TODAY, IT’S POSSIBLE FOR PEOPLE WITH HEMOPHILIA, AND THEIR FAMILIES, TO LEARN HOW TO
GIVE THEIR OWN CLOTTING TREATMENT AT THEIR HOME. THIS CAN SAVE TIME AND THE TROUBLE
OF GOING TO THE DOCTOR. IF YOU GIVE A FACTOR TREATMENT PRODUCT AT HOME THEN “BLEEDS
CAN BE TREATED QUICKER, RESULTING IN LESS SERIOUS BLEEDING AND FEWER SIDE EFFECTS.”
DOCTOR’S
REPORT: SURGERY
AND MEDICINE
• THE TWO MAIN TYPES OF
CLOTTING FACTOR
CONCENTRATES AVAILABLE ARE:
• PLASMA-DERIVED FACTOR
CONCENTRATES WHICH IS
PLASMA DRAWN FROM PEOPLE
AND GONE THROUGH SEVERAL
PROCESSES TO MAKE THE
PLASMA USABLE FOR DISEASES
SUCH AS CLOTTING FACTORS.
• RECOMBINANT FACTOR
CONCENTRATES WHICH
REMOVES OR KILLS BLOOD
BORNE VIRUSES.
 DOCTOR’S REPORT: STATISTICS

• HEMOPHILIA A AFFECTS 1 IN 5,000 MALE BIRTHS. ABOUT 400 BABIES ARE BORN WITH HEMOPHILIA A
EACH YEAR.
• THE EXACT NUMBER OF ALL THE PEOPLE IN THE UNITED STATES WITH HEMOPHILIA IS NOT KNOWN.
“BUT, BASED ON A RECENT STUDY THAT USED DATA THAT WAS COLLECTED ON PATIENTS RECEIVING CARE
IN HEMOPHILIA TREATMENT CENTERS, DURING THE PERIOD 2012-2018, AS MANY AS 33,000 MALES IN
THE UNITED STATES ARE LIVING WITH THE DISORDER.”
•
IN ABOUT TWO THIRDS OF THOSE CASES, THERE IS A FAMILY HISTORY OF HEMOPHILIA. THE DIAGNOSIS
OF HEMOPHILIA IS MADE USING A SPECIAL BLOOD TEST. MOST BABIES CAN BE TESTED VERY SOON
AFTER BIRTH AND SOMETIMES PRENATAL GENETIC TESTING IS DONE TO DIAGNOSE HEMOPHILIA BEFORE
BIRTH AS WELL.
 DOCTOR’S REPORT: CURABLE?

• THERE IS CURRENTLY NO CURE FOR HEMOPHILIA

• BUT THERE ARE CERTAIN MEDICATIONS THAT PATIENTS CAN TAKE
• PEOPLE WITH HEMOPHILIA HAVE LITTLE OR NO CLOTTING FACTOR
• BECAUSE OF THIS THEY MAY BLEED VERY MUCH FOR A LARGE AMOUNT OF TIME
WHICH CAN BE VERY DEADLY TO THE HUMAN.
 DOCTOR’S REPORT: RESEARCH BEING DONE
ON HEMOPHILIA
• THE CURRENT TREATMENT FOR SEVERE CASES IS GETTING REGULAR OF CLOTTING FACTOR
TO HELP WITH THE BLEEDING. HOWEVER, A MAJORITY OF PATIENTS IN THE WORLD WITH
THE DISORDER DON’T HAVE ACCESS TO THIS TREATMENT, WHICH COSTS $400,000 PER YEAR.
• PLUS, ABOUT A THIRD OF PATIENTS DEVELOP ANTIBODIES TO THE TREATMENT. FOR THESE
REASONS, BEING ABLE TO CURE HEMOPHILIA WITH STEM CELL TRANSPLANTS WOULD BE
OUTSTANDING. RESEARCHERS AT WAKE FOREST INSTITUTE FOR REGENERATIVE MEDICINE
(WFIRM) HOPE THAT IF THEIR RESEARCH AND STUDIES AREN’T SUCCESSFUL AT CURING THE
DISEASE, IT WOULD AT LEAST SOLVE THE ANTIBODY PROBLEM SO THAT CURRENT
TREATMENT WOULD BE MORE EFFECTIVE.
DOCTOR’S REPORT: AVAILABLE TECHNOLOGY
OR PRODUCTS TO ASSIST IN LIVING WITH
HEMOPHILIA
• SOME OF THE WAYS TO LIVE WITH THIS DISEASE ARE TO:
• FIND GOOD MEDICAL CARE
• ENROLL IN COMMUNITY COUNTS
• FIND A SUPPORT NETWORK
• BE PREPARED FOR AN EMERGENCY
• GET VACCINATED
• GET TESTED REGULARLY FOR BLOOD BORNE INFECTIONS
 HEMOPHILIA GENETIC
COUNSELOR’S REPORT
HOW INHERITED, DOMINANT OR RECESSIVE, GENOTYPES OF
PARENTS…
 GENETIC COUNSELOR’S
REPORT: HOW WAS THIS
INHERITED?
• MOST PEOPLE WHO HAVE HEMOPHILIA ARE BORN WITH IT. IT ALMOST ALWAYS IS
PASSED DOWN FROM A PARENT TO A CHILD. “BOTH HEMOPHILIA A AND B ARE
INHERITED IN THE SAME WAY, BECAUSE BOTH THE GENES FOR FACTOR VIII AND
FACTOR IX ARE LOCATED ON THE X CHROMOSOME (CHROMOSOMES ARE
STRUCTURES WITHIN THE BODY’S CELLS THAT CONTAIN THE GENES).”

• THE X AND Y CHROMOSOMES DETERMINE WHETHER A PERSON’S SEX IS A MALE OR

FEMALE; FEMALES HAVE TWO X CHROMOSOMES (XX) AND MALES HAVE ONE X
CHROMOSOME AND ONE Y CHROMOSOME (XY). THERE ARE NO GENES FOR
CLOTTING FACTORS ON THE Y CHROMOSOME SINCE IT DETERMINES SEX. THIS
MEANS THAT MALES ONLY HAVE ONE ALLELE FOR EACH FACTOR. IT ALSO MEANS
THAT THEY ONLY HAVE TWO POSSIBILITIES, HAVING IT OR NOT HAVING IT.

• THEREFORE, IF A MALE HAS A HEMOPHILIA ALLELE ON HIS ONLY X CHROMOSOME,

HE WILL HAVE THE DISORDER REGARDLESS. FEMALES THOUGH CAN HAVE A
HEMOPHILIA ALLELE ON ONE OF THEIR X’S AND BE FINE. THESE FEMALES ARE
CARRIERS OF THE DISEASE, BUT DON’T HAVE THE DISEASE. IF THE FEMALE HAS
HEMOPHILIA ON BOTH OF HER XX’S, THEN SHE WILL HAVE THE DISEASE AND
POSSIBLY PASS IT DOWN TO HER OFFSPRING.
 GENETIC COUNSELOR’S REPORT: DOMINANT
OR RECESSIVE, GENE OR CHROMOSOME
MUTATION, SEX-LINKED OR AUTOSOMAL.
• THIS DISEASE IS RECESSIVE DISORDER, CARRIED ON THE X CHROMOSOME.
• HEMOPHILIA IS A GENE MUTATION BECAUSE ONE OF THE GENES THAT PROVIDES
INSTRUCTIONS FOR MAKING THE PROTEIN NEEDED TO FORM A BLOOD CLOT, IS
CHANGED OR MUTATED.
• HEMOPHILIA IS A SEX-LINKED DISORDER MEANING THAT MALES ARE MORE
LIKELY TO GET IT THAN FEMALES.
 • GENOTYPES WOULD HAVE TO BE: FEMALE: X BIG H, X
LITTLE H OR X LITTLE H, X LITTLE H
GENETIC • MALE: X BIG H Y OR X LITTLE H Y
COUNSELOR’S • IF THE MALE HAD X BIG H Y AND THE FEMALE WAS A
REPORT: WHAT CARRIER THEN EACH DAUGHTER AND SON WOULD
GENOTYPES HAVE A 25% CHANCE OF GETTING HEMOPHILIA.

WOULD THE
PARENTS HAVE
TO BE TO HAVE
A CHILD WITH
HEMOPHILIA?
GENETIC COUNSELOR’S REPORT: CHANCES OF
GETTING PASSED ON
• IF A MOTHER IS HETEROZYGOUS (A CARRIER) FOR HEMOPHILIA AND THE FATHER DOES NOT HAVE
HEMOPHILIA, EACH SON HAS A 1 IN 2 (50%) CHANCE OF GETTING HIS MOTHER’S HEMOPHILIA ALLELE AND
HAVING HEMOPHILIA. EACH DAUGHTER HAS A 1 IN 2 (50%) CHANCE OF GETTING HER MOTHER’S
HEMOPHILIA ALLELE AND BEING HETEROZYGOUS.
• OVERALL, THERE IS A 1 IN 4 (25%) CHANCE FOR EVERY PREGNANCY THAT THE BABY WILL BE A SON WITH
HEMOPHILIA AND A 1 IN 4 (25%) CHANCE THAT THE BABY WILL BE A HETEROZYGOUS DAUGHTER. THERE
ALSO IS A 1 IN 2 (50%) CHANCE THAT THE BABY (EITHER A SON OR A DAUGHTER) WILL NOT GET THE
HEMOPHILIA ALLELE AT ALL AND, THEREFORE, CAN’T PASS IT DOWN TO HIS OR HER CHILDREN.
• OVERALL FOR MALES, THERE IS A 1 IN 2 (50%) CHANCE THAT THE CHILD WILL BE A SON WHO DOES NOT HAVE
HEMOPHILIA AND A 1 IN 2 (50%) CHANCE THAT THE CHILD WILL BE A DAUGHTER WHO IS HETEROZYGOUS (A
CARRIER). THIS IS TRUE IF THE MOTHER DOES NOT HAVE A HEMOPHILIA ALLELE HERSELF.
 PUNNET SQUARE OF PROBABILITY OF BEING
PASSED DOWN
• THE PROBABILITY HERE IS 25% CHANCE OF GETTING
HEMOPHILIA SINCE THE MALE IS NORMAL AND THE
FEMALE IS A CARRIER
• ANOTHER EXAMPLE WOULD BE IF THE MALE HAS
HEMOPHILIA AND THE FEMALE IS A CARRIER.
• THE PROBABILITY WOULD BE 50% OF GETTING
HEMOPHILIA.
• A SIMILAR EXAMPLE IS IF BOTH THE PARENTS HAVE
HEMOPHILIA, THEN THE PROBABILITY WOULD BE 100%
CHANCE FOR THE OFFSPRING TO GET HEMOPHILIA.
PEDIGREE OF
OUR FUTURE
FAMILY
• THIS PEDIGREE SHOWS THE MOM AS A
CARRIER AND THE DAD NORMAL. THIS
WOULD EXPLAIN HOW OUR SON HAS
THE CHANCE OF GETTING
HEMOPHILIA.
• THE DISEASE IS PASSED ON TO THE
NEXT GENERATION: ONE FEMALE IS A
CARRIER AND ONE MALE GETS THE
DISEASE FROM THE MOTHER’S
HEMOPHILIA X ALLELE.
• THE NEXT GENERATION, TWO
FEMALES BECOME CARRIERS OF THE
DISEASE, JUST LIKE THE MOTHERS OF
THOSE KIDS WAS.
 HEMOPHILIA: PARENT’S
REPORT
CHANGES TO DAILY ROUTINE, MEDICAL COSTS, EMOTIONAL
IMPACT…
 PARENT’S REPORT:
CHANGES TO DAILY
ROUTINE
• MUST BE CAREFUL WHEN PLAYING,
JUMPING OR FALLING FROM A HIGH PLACE
• IF MY CHILD HIT A CERTAIN BODY PART
JUST A LITTLE TOO HARD THEY WILL START
UNCONTROLLABLY BLEEDING
• THIS MEANS MY CHILD MUST BE CAREFUL
WHEN HE/SHE IS OUT AND ABOUT
• AVOID ROUGH PLAY AND TALL FALLS
 PARENTS REPORT: ACCOMMODATIONS THAT
MUST BE MADE
• MY CHILD MUST:
• EXERCISE REGULARLY
• AVOID CERTAIN PAIN MEDICATIONS
• AVOID BLOOD THINNING MEDICATIONS
• PRACTICE GOOD DENTAL HYGIENE
• GET VACCINATIONS
• PROTECT CHILD FROM INJURIES THAT COULD CAUSE BLEEDING
 PARENTS REPORT: MEDICAL COSTS

• ACCORDING TO THE NATIONAL HEMOPHILIA ASSOCIATION, “THE AVERAGE

ANNUAL COST OF CLOTTING FACTOR THERAPIES FOR A PERSON WITH
SEVERE HEMOPHILIA IS ROUGHLY $300,000. A PERSON WITH AN INHIBITOR (AN
IMMUNE RESPONSE TO REPLACEMENT CLOTTING FACTOR) USUALLY HAS
EXPENSES OVER A MILLION DOLLARS A YEAR.”
 PARENTS REPORT: EMOTIONAL IMPACT ON
FAMILY
• MY FAMILY MAY EXPERIENCE MANY DRAMATIC EMOTIONS: SHOCK, WORRY,
BLAME, DENIAL, GUILT, STRESS, AND ANGER, TO NAME A FEW. WE MAY FACE
EMERGENCIES. WE MAY HAVE TO OVERSEE OUR CHILD’S SAFETY IN SCHOOL
AND SOCIAL SETTINGS.
• WITH ALL THESE PRESSURES, RELATIONSHIPS BETWEEN SPOUSES, SIBLINGS, OR
PARTNERS MAY BECOME STRESSFUL AND BURDENSOME.
 PARENTS REPORT: WILL WE HAVE TO MOVE
TO BE CLOSER TO SUPPORT CENTERS? WILL
MY CHILD BE TREATED DIFFERENTLY? HOW
WILL THIS AFFECT THEM?
• WE WILL NOT HAVE TO MOVE CLOSER TO ANY SUPPORT CENTERS BECAUSE WE
ARE NEAR A BUNCH OF THEM
• MY CHILD I BELIEVE WILL BE TREATED NORMALLY JUST LIKE ANYONE ELSE
WITH HEMOPHILIA
• THE MAIN TREATMENT FOR HEMOPHILIA IS FACTOR REPLACEMENT SURGERY
• THIS GIVES MY CHILD THE CLOTTING FACTOR IT NEEDS
• THEY WILL RECEIVE THE THERAPY THROUGH A VEIN
HEMOPHILIA: COMMUNITY
RESOURCES
LOCAL TREATMENT CENTERS, LOCAL SUPPORT GROUPS,
NATIONAL FOUNDATIONS…
COMMUNITY RESOURCES: LOCAL TREATMENT
CENTERS
• “HTCS ARE SPECIALIZED HEALTH CARE CENTERS THAT BRING TOGETHER A TEAM OF DOCTORS, NURSES, AND OTHER HEALTH PROFESSIONALS EXPERIENCED
IN TREATING PEOPLE WITH HEMOPHILIA.”
• SOME NEARBY LYNCHBURG:
• CHILDREN’S HOSPITAL OF THE KING’S DAUGHTERS (CHKD)
• PEDIATRIC TREATMENT CENTER: HEMOSTASIS AND THROMBOSIS CENTER AT CHKD, CHILDREN’S CANCER AND BLOOD DISORDERS CENTER, 601
CHILDREN’S LANE, NORFOLK, VA 23507
• MEDICAL DIRECTOR: KEVIN TODD, MD
CONTACT: CATHERINE WALLACE DE MELENDEZ, MSN, RN, CNL, CATHERINE.WALLACEDEMELENDEZ@CHKD.ORG
CLINIC PHONE NUMBER: 757-668-7243
• UNIVERSITY OF VIRGINIA
• PEDIATRIC HEMOPHILIA TREATMENT CENTER: DIVISION OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, 5TH FLOOR BATTLE BUILDING, 1204 MAIN
STREET, CHARLOTTESVILLE, VA 22903
• PEDIATRIC MEDICAL DIRECTOR: COLLEEN DRUZGAL, MD
CONTACT: MARGY SENNETT, PNP MMS9D@VIRGINIA.EDU
CLINIC PHONE NUMBER: 434-924-8499
 COMMUNITY RESOURCES: LOCAL SUPPORT
GROUPS
• WORLD FEDERATION OF HEMOPHILIA
• EMAIL WFH OR CALL +1 514-875-7944
• AMERICAN SOCIETY OF HEMATOLOGY
• CALL 866-828-1231 OR 001-202-776-0544 (INTERNATIONAL CALLERS)
 COMMUNITY RESOURCES: NATIONAL
FOUNDATIONS THAT PROVIDE GRANTS OR
OTHER SUPPORT
• THE NATIONAL HEMOPHILIA FOUNDATION:
• CALL 800.424.2634 OR EMAIL
HANDI@HEMOPHILIA.ORG.

• THE HEMOPHILIA FEDERATION OF AMERICA:

• THIS ONE WE MAY HAVE TO DRIVE A LITTLE
FAR…
• 999 N CAPITOL STREET NE, SUITE 301
WASHINGTON, D.C. 20002
PHONE: (202) 675-6984
 COMMUNITY RESOURCES: SPECIAL SCHOOL
OR PROGRAMS CHILD WOULD NEED TO
ATTEND
• STUDENTS WITH HEMOPHILIA MAY ATTEND SCHOOL AND PARTICIPATE IN MOST ACTIVITIES
• STUDENTS WITH HEMOPHILIA FREQUENTLY MISS SCHOOL. THEY MAY REQUIRE
HOSPITALIZATIONS FROM TIME TO TIME, SOMETIMES FOR SEVERAL DAYS OR WEEKS.
FULL-TIME AND/OR INTERMITTENT HOSPITAL HOMEBOUND SERVICES SUSPENSION OF
ATTENDANCE REQUIREMENTS FOR ABSENCES DUE TO MEDICAL APPOINTMENTS AND
ILLNESS, INCLUDING ALLOWANCES FOR STUDENT TO PARTICIPATE IN EXTRA-CURRICULAR
PROGRAMS AND EVENTS WITHOUT PENALTY DUE TO ABSENCES.
• PARTIAL-DAY ATTENDANCE, AS NECESSARY ABILITY TO SIT OUT DURING STRENUOUS
ACTIVITIES AND NOT PARTICIPATE IN CONTACT SPORTS AND/ ORP.E. WHILE IN SCHOOL
 LOCAL BUSINESSES THAT PROVIDE
FINANCIAL SUPPORT AND ONLINE SUPPORT
• GREATER LYNCHBURG HABITAT FOR HUMANITY
• 4.0(4) · NON-PROFIT ORGANIZATION
• 360 ALLEGHANY AVE · (434) 528-3774
• OPEN ⋅ CLOSES 6 PM
• THE NATIONAL HEMOPHILIA FOUNDATION IS ALSO A GREAT FINANCIAL SUPPORT OPTION AS IT
IS A NATIONAL FOUNDATION. THEY PROVIDE PROGRAMS THAT HELP WITH FINANCIAL NEEDS.
• THE NATIONAL HEMOPHILIA FOUNDATION:

• CALL 800.424.2634 OR EMAIL HANDI@HEMOPHILIA.ORG.

 WORKS CITED

• “INFORMATION FOR PEOPLE WITH HEMOPHILIA.” CENTERS FOR DISEASE CONTROL

AND PREVENTION, AUGUST 25, 2022, HTTPS://WWW.CDC.GOV/NCBDDD
/HEMOPHILIA/PEOPLE.HTML. MARCH 7, 2023.
• “GENE THERAPY.” HEMOPHILIA NEWS TODAY, FEBRUARY 14, 2020, HTTPS://
HEMOPHILIANEWSTODAY.COM/GENE-THERAPY/. MARCH 8, 2023.
• “RESEARCHING A TREATMENT FOR HEMOPHILIA.” WAKE UNIVERSITY SCHOOL OF
MEDICINE, HTTPS://SCHOOL.WAKEHEALTH.EDU
/RESEARCH/INSTITUTES-AND-CENTERS/WAKE-FOREST-INSTITUTE-FOR-REGENERATI
VE-MEDICINE/RESEARCH/CELL-AND-GENE-THERAPY-RESEARCH/RESEARCHING-A-T
REATMENT-FOR-HEMOPHILIA
. MARCH 8, 2023.