guide to mild hemophilia

7/28/2019 Guide to Mild Hemophilia

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Your Guide to

Mild Hemophil


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MILD HEMOPHILIA

What is Hemophilia? Hemophilia is a bleeding disorder that

prevents blood rom clotting normally. Hemophilia is caused by a shortage or

defciency o one o the proteins in bloodresponsible or blood clotting.

There are two major types o hemophilia Hemophilia A or a defciency o the actor VIIIprotein; and Hemophilia B, a defciency o theactor IX protein.

Hemophilia is a genetic disorder that may

becarried by emales, but usually only malesactually have symptoms o hemophilia. Female hemophilia carriers with lower than

normal levels o actor VIII or IX may havebleeding problems similar to males with mildhemophilia. Some emale carriers have normalclotting protein levels and do not have abnormalbleeding.

Hemophilia occurs in varying degrees o severity depending upon the amount o normal clotting protein that the individual

can manu acture. Individuals with very smallamounts o actor VIII or actor IX have themost severe symptoms. Those with nearlynormal amounts (mild hemophilia) usually havevery mild symptoms.

A person with mild hemophilia will usually notbleed unless he sustains a major injury or hassurgery or a dental procedure.

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Region VIII and Region X Authors:Susan Geraghty

Jane Ellen JonesMary Lou DamianoRenee KillianKyme Groller Copyright 2009


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Both type o hemophilia and severity are inherited characteristics and will bethe same in all a ected amily members.

There is no cure or hemophilia at thepresent time but there are treatments to

prevent or to stop bleeding and preventcomplications o the disease.

Factor VIII or IXlevel in blood

Bleedingsymptoms

Normal 50-150% None

Hemophilia carriers 15-150% Bleeding withsurgery, major trauma at lower factor levels

Mild hemophilia Greater than 5% Major trauma,surgery, dentalprocedures

Moderatehemophilia

1-5% Surgery, possiblemuscle/jointbleeding after trauma

Severe hemophilia Less than 1% Surgery,spontaneousbleeding intomuscles/joints

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Diagnosing Mild Hemophilia There are two ways to diagnose hemophilia

by taking a blood sample to determine actorVIII or IX activity level, or i there is a knownamily member with mild hemophilia, DNAtesting can be done to confrm the diagnosis inadditional amily members.

DNA testing may also be done prenatally whena emale carrier and her amily would like toknow i their unborn child will have hemophilia.

An infant may be diagnosed shortly after birth,either by testing blood rom the umbilical cordor by drawing blood rom the babys vein.

If there is no family history of hemophilia,the diagnosis is o ten not made during thechildhood years unless the child has had somesignifcant trauma or a surgical procedure.

These might include: Circumcision Tonsillectomy Dental extractions Sports injuries Accidents

Diagnosis in teens and adults can occurollowing unexplained bleeding during or a tera medical procedure, surgery, or sutures, orollowing a sports injury or other injury thatrequired a longer than normal time or healing.

Many adult males are diagnosed when surgeryis scheduled and pre-operative screening testsindicate that they may be at risk or excessivebleeding. A re erral or additional laboratorystudies o ten reveals a diagnosis o mildhemophilia.

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Some males are diagnosed when a commonsurgical procedure (such as appendectomy,prostate surgery, hernia repair, gall bladder

surgery or dental extraction) is complicated byexcessive bleeding or prolonged healing. A primary care physician or a hematologist may

diagnose hemophilia but re erral to a hemophiliatreatment center (HTC) should take place soona ter diagnosis.

Once diagnosis is con rmed it is important tohave a amily pedigree constructed so thatamily members who may be at risk o havinghemophilia or o being a hemophilia carriermay be alerted. At risk individuals can then beo ered laboratory testing and counseling.

Correct diagnosis and education are always thebest ways to prevent bleeding complicationsrom occurring. Education is most e ectivewhen done at a scheduled appointment in

a calm environment that is conducive toopen discussion regarding diagnosis and thedevelopment o a hemophilia treatment plan.The newly diagnosed individual should haveample opportunity to have any and all questionsregarding hemophilia diagnosis and managementanswered by knowledgeable hemophilia experts.

Genetics of Hemophilia Hemophilia is a sex-linked (or X-linked) geneticdisorder. It is carried by emales, but only

males actually have hemophilia with its bleedingcomplications.

The gene for hemophilia is carried on the Xchromosome

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Females have two X chromosomes.In hemophilia, one o the X chromosomes isnormal and one o them carries the hemophilia

gene. The hemophilia X chromosome resultsin a defciency or absence o the actor VIII orIX protein required or normal blood clotting.

In a female carrier of hemophilia, the normalgene overrides the hemophilia gene andalthough the emale carries the disorder, shedoes not ully express the disease and usuallydoes not have major bleeding symptoms.

Males have an X and Y chromosome. TheY is inherited from their father and the X isinherited rom their mother. I a male child

inherits the mothers hemophilia X, he willbe a ected by hemophilia. I he inherits hernormal X, he will not have hemophilia.

Each son of a hemophilia carrier has a 50%chance o having hemophilia; each daughter hasa 50% chance of being a carrier. Carrier statuscan be accurately determined by having blooddrawn or DNA testing.

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Inheritance Pattern in Hemophilia

Carrier mother Unaffected family

Carrier mother andfather with hemophilia

Spontaneous mutation

Father with hemophilia

xxFemale - Hemophilia

xyUnaffected Male

xyMale - Hemophilia

xxNon Carrier

xxCarrier


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Hemophilia Carriers The rst indication of whether someone may

be at risk or being a carrier is the amily

history. I there are a ected males in a amily,then some emales are at risk o being carriers.

Women that have at least two sons withhemophilia, or one son and another bloodrelative with hemophilia are proven hemophilia

carriers. Women that have one affected son or noother blood relatives with hemophilia may ormay not be carriers. They will need genetictesting to determine whether they carry thegene or hemophilia.

Obligate carriers are the daughters of menwith hemophilia. They must inherit thehemophilia X rom their ather and a normalX rom their mother. This XX combinationautomatically makes them obligatory carriers.

Obligate carriers do not need genetictesting to determine whether they carrythe hemophilia gene. They do and they havea 50% chance of passing the gene to each of their children.

In 1 out of 3 families where hemophilia hasnever been diagnosed be ore, a new andspontaneous mutation may have occurredwhich caused hemophilia to occur in a amilymember.

Both carriers and obligate carriers need tohave actor VIII or IX activity levels determinedby a laboratory analysis. Many carriers havelower than normal actor levels. These levelscan be as low as those in mild hemophilia andmay put the carrier at risk or bleeding.

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If a carrier has low (50% or less) factor VIII or IXlevels, she may need clotting actor or DDAVP orinjuries, dental or surgical procedures. She shouldcontact the Hemophilia Treatment Center i anyprocedures are being planned so that a treatmentplan can be ormulated.

In an emergency situation, when a carriers factorVIII or IX level has not yet been determined, itshould be assumed that her level is


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TreatmentBleeding

Bleeding episodes respond best i treated

promptly by raising the clotting actor at least abovethe 50% level to stop the bleeding

I in doubt as to whether treatment is needed,contact your HTC or hematologist to discuss yourinjury or planned surgery

General CareClean superfcial wounds with soap and water,

apply pressure until bleeding stops, and use a Band-aid or a pressure bandage i necessary

More serious lacerations in the person with

hemophilia require the same frst aid treatment as aperson without hemophilia, however i sutures areneeded to close a wound, it is important to seek treatment recommendations rom a physician at theHTC or a hematologist with hemophilia expertise.

For muscle, joint or so t tissue injuries or traumathe frst line o treatment is RICE

While each patient and each bleeding episodemay be handled di erently, the ollowing actorconcentrates or medications are used in thetreatment o mild hemophilia

R est rest the injured/bleeding part whichmay include a sling or crutchesI ce apply ice over a thin cloth; exible icepack or bagged loose ice is best. Leave the icepack on for no longer than 20 minutes at atime. This should be done several times a dayor the frst 48 hours ollowing an injury

C ompression use carefully applied

compression bandage where appropriate.E levation raise the affected area abovethe level o the heart

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Treatment ProductsHemophilia ADesmopressin Acetate (DDAVP):

DDAVP may be the treatment o choice or somepeople with mild hemophilia A. This synthetichormone can be administered either intravenously(in the vein), subcutaneously (under the skin) or asa nasal spray called Stimate (1.5mg/ml strength).

DDAVP works by causing Factor VIII stored inthe lining o blood vessels to be released into theblood stream to control bleeding. While responseto DDAVP varies among individuals and evenamily members, it can raise ones level by 3- old

(3 times the circulating level or baseline level o actor VIII). No individuals response to DDAVP is predictable,

thus making it important to have a test dose withlevels o Factor VIII measured be ore and a ter thedose. This will help the HTC determine i andwhen this drug can be used to control bleeding.

Some people do not respond to DDAVP or mayhave other health conditions that would preventthe sa e use o this medication thus eliminatingDDAVP as a treatment option or that person.

DDAVP is not e ective or Factor IXdefciency

While DDAVP (or Stimate) is generally sa e ormost people, there are potential side e ects andprecautions to be considered. I a person requires

more than two doses o DDAVP or Stimate orthe same bleeding episode, the storage sites mightbe temporarily depleted causing inadequate actorVIII to be released. Depending upon the situation,a clotting actor concentrate might be required.

Factor VIII Concentrates: There are numerous actor VIII products availableranging rom plasma-derived products to products

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that are primarily recombinant with plasmaprotein additions to completely synthetic actormade in the laboratory.

All three types are currently available or patientchoice. All o these concentrates come as areeze-dried powder which is mixed with sterilewater and administered into a vein.

The Medical & Scientifc Advisory Council(MASAC) o the National Hemophilia Foundation

states that recombinant actor VIII productsare the recommended treatment o choiceor patients with hemophilia A. (MASACGuideline #151).

While there is a theoretical risk of viral orother pathogenic transmission rom the use o clotting actor concentrate, it is worth noting thatthere have been no reports o pathogens beingtransmitted by any of these products in 20 years.

Hemophilia B

Factor IX Concentrates: Persons with a defciency o actor IX have

hemophilia B and require a actor IX clottingconcentrate to prevent or treat bleeding

As with actor VIII products, actor IXconcentrates can be either plasma derived orrecombinant (genetically engineered)

Prothrombin Complex Concentrates. Plasmaderived actor IX products that also containother clotting actors and have the potentialto cause excessive clotting

Highly purifed plasma derived actor IXconcentrate contains only actor IX.

Recombinant actor IX concentrate containsno human or animal proteins

All classifcations o actor IX products areavailable or patient choice

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Preventing BleedingAs a person with mild hemophiliathere are things you can do to helpprevent bleeding:

Always noti y your HTC i you are planning tohave an invasive procedure, surgery or dentalwork so that treatment recommendations canbe made to prevent bleeding.

These procedures might include: Dental work

Routine cleaningFillings requiring injection or anesthesiaDental procedures such as tooth extraction,or work on gum tissue

Surgical proceduresInvasive or diagnostic proceduresEye surgeriesColonoscopyBiopsies

ImmunizationsSubcutaneous orintramuscular

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When an injury occurs remember frst and oremost you have a bleeding disorder.Contact your HTC or recommendations

or treatment i you have an injury.

Watch or signs and symptoms o bleedingSwelling o a joint, so t tissue or musclePainArea is warm to touch

Injury or blow to the head, neck or abdomen Noti y your HTC immediately or evaluationand treatment

Things to avoid:

Contact sports such as ootball or hockey;as well as other high risk activities

Aspirin or aspirin containing products Be prepared when traveling

Contact your HTC be ore travelingAlways carry your actor product, suppliesor Stimate with youCarry a letter explaining your hemophilia,need or treatment, dosage and HTCcontact in ormation

Obtain contact information for the HTCin the area to which you are traveling inorder to access appropriate hemophiliacare i needed

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Be Proactive

Wear protective gear such as helmets and

knee pads when doing activities that mayput you at risk or injury and bleeding

Practice good dental hygiene to avoid toothdecay and gum disease

Eat a nutritional diet and maintain a healthyweightExercise regularly or strong muscles andhealthy joints

Wear a medic alert bracelet or necklace

Get immunized against Hepatitis A andHepatitis B

Noti y all o your physicians including yourdentist about your hemophilia

Use caution with homeopathic or herbalremediesGet yearly comprehensive hemophiliaevaluations

Always maintain health insurance

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Conclusions Mild hemophilia is a very manageable disorder

when appropriate treatment is sought.

A knowledgeable patient is a sa e patient seek in ormation and education regardinghemophilia.

Regular contact with the HTC is highlyrecommended even when there are noobvious bleeding problems. Once a year or

an every other year visit is optimal or goodpreventive management.

Contact your HTC or hematologist priorto any invasive procedures, surgery ordental work or appropriate treatmentrecommendations.

Remember that an INJURY EQUALS ABLEEDING EPISODE. Dont just treat theinjury. Call the HTC and inquire about yourbleeding risk.

Live li e to the ullest and have un!!

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My Hemophilia Diagnosis:

Type of Hemophilia

Severity

Funded by CSL Behring Foundation Grant

guide to mild hemophilia

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