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HaemochromatosisYour questions answered

HaemochromatosisSome fast facts

• Haemochromatosisisthemostcommongenetic disorder,affectingapproximately1inevery200 AustraliansofEuropeanorigin.

• Symptomstendtooccuraftertheageof40,butmay beearlierorlater.Earlysymptomsmayincludefatigue, abdominalpainandjointaches.

• Apersonwithhaemochromatosis,ifuntreated,isat riskofabsorbingtoomuchironfromtheirfood.This‘iron overload’buildsupinvariouspartsofthebodyand causesdamageinadults.

• Earlyironoverloadmighthavenosymptoms,even thoughorgandamageisoccurring.

• Organsthatmaybedamagedbyironoverloadinclude theliver,heart,pancreas,jointsandsexorgans.

• Ironoverloadcanbedetectedbyabloodtest.

• Thegeneticconditionofhaemochromatosisisalso detectedbyabloodtest.

• Haemochromatosisiseasilytreated.Excessironis removedfromthebodybytakingbloodinthesame wayasdonatingbloodatabloodbank.

• Earlydiagnosisandtreatmentpreventscomplications andresultsinnormalhealthandlifeexpectancy.

• Haemochromatosiscannotbetreatedbydietalone.

Haemochromatosis-YourQuestionsAnswered2

Frequently Asked questions

• HowdoIknowifIhavehaemochromatosis?................4

• Whogetshaemochromatosisandhow?.......................6

• Whatmighthaemochromatosisdotome?...................11

• DoIneedtoseeaspecialist?..........................................14

• Howishaemochromatosistreated?...............................15

• WheredoIgoforvenesection?......................................22

• WherecanIgetfurtherhelpandsupport?....................25

• Explainingsomewords......................................................27

These questions are answered in the following pages by some of Australia’s foremost experts on the subject:

Professor Lawrie Powell AC, MD, PhD, FRACP, FRCP (Lond.)Director,RoyalBrisbaneWomensHospitalCentrefortheAdvancementofClinicalResearchProfessorEmeritusTheUniversityofQueenslandBrisbane

Professor Martin Delatycki MBBS, FRACP, PhD. Director,ClinicalGenetics-AustinHealthDirector,BruceLefroyCentre-MurdochChildrensResearchInstitute

Professor John Olynyk BMedSc, MBBS, FRACP, MD.DirectorofGastroenterology,FremantleHospital

Dr Barbara Bell, NationalBloodServicesManager,AustralianRedCrossBloodService

Assisted by-Dr Katie Goot MBBS, BSc, FACRRMGPLiaisonOfficerforHaemochromatosisAustralia

Haemochromatosis-YourQuestionsAnswered 3

How do I know if I have haemochromatosis?

Quick answerYourdoctorcanorderbloodtests(knownasironstudies)tocheckyourironlevels.Ifthereisareasontosuspecthaemochromatosisyoucanbetestedforthegenesbyanotherbloodtest.

More information - Contributed by Professor Lawrie Powell

Regular check upsManycasesof haemochromatosis are nowdiagnosedwhenapersonattendsaGP fora“checkup”. Indoing thestandard laboratory teststheGPwillnoticearaisedserumironlevelandfollowthisupwithmorespecifictestsforhaemochromatosis.

You should be tested for haemochromatosis in the following situationsYouhavesomesymptomsthatsuggesthaemochromatosisGeneralsymptomsrelatingtoincreasedlevelsofstoredironinthewholebodyincludefatigue,weakness,lethargy,apathy,weightloss,abdominalpainandjointaches–inparticular,acheswithinthejointsofthefingers.Ifyouhave thesesymptoms,areCaucasian (ofEuropean racialorigin)andovertheageof30,thenhaemochromatosisshouldbesuspected.If you have any of the complications that can be caused byhaemochromatosis (including liver disease, liver cancer, heart failure,diabetes, impotence, loss of libido, earlymenopause, pigmented skin,arthritis),thenyoushouldbetestedforhaemochromatosis. YouhavefamilymemberswhohavehaemochromatosisIfyourbrother,sister,child,parentorgrandparenthashaemochromatosis,thenyou shouldbe testedas your riskofhaving the samecondition ismuchincreased.Ifyourcousin,auntorunclehashaemochromatosisthenyoushouldalsobetested,althoughtheriskisnotasgreatasinthelistabove.

You should be tested if a relative died from one of the following conditions which might have been caused by haemochromatosis

• liverdiseasebutdidnothavehepatitisBorhepatitisCanddidnotdrinkalcohol

• livercanceratayoungage(under60yearsold)


• heartfailurewherethecauseofheartfailurewasnotknown• “bronzediabetes”(pigmentedskinanddiabetes)

Blood testsIfyouhaveeverhadabloodtestwhichshowsthatyouhaveincreasediron levelsorthatyouhaveabnormal liver functionthenyoushouldbetestedforhaemochromatosis.

Thereareanumberof reasonsapart fromhaemochromatosis thatcanleadtoincreasedironlevelsandabnormal liverfunction.TheseincludehepatitisBinfection,hepatitisCinfection,alcoholicliverdiseaseandfattyliver(alsocalledNon-AlcoholicFattyLiverDiseaseorNAFLD).

IronlevelstestnameAbnormalrange

forfemalesAbnormalrange

formales

SerumIron Above30µmol/L Above30µmol/L

SerumFerritin(SF) Above200µg/L Above300µg/L

TransferrinSaturation(TS%) Above45% Above50%


µmol/L=micromolesperlitreandµg/L=microgramsperlitre

Thresholdtoconsiderhaemochromatosis

Who gets haemochromatosis and how?

Quick answerHaemochromatosis is an inherited condition. To be affected youmustreceiveafaultygenefromeachparent

More information - Contributed by Professor Martin Delatycki

Genes and haemochromatosisWehaveabout25,000pairsofgenes ineachcell. Haemochromatosisoccursduetoapersoninheritinggenefaultswhicharetechnicallycalledmutations.Faultsinanumberofdifferentgenescancausehaemochromatosis,butinAustraliamostpeoplewiththeconditionhaveitduetofaultsintheHFEgene.

Our genes come in pairs, one inherited from each parent. To havehaemochromatosisapersonneeds tohavea fault inbothof theirHFEgenes(seefigure).Thisisknownasautosomalrecessiveinheritance.

h = normal HFE geneH = faulty HFE gene

h h

HhHh HH

HH

HhHh

hh

Geneticcarrierfor

haemochromatosis

(mother)

Geneticcarrierfor

haemochromatosis

(father)

Geneticcarrierfor

haemochromatosis

2outof4chances

50%

non-carrier

1outof4chance

25%

predisposedtodevelop

haemochromatosis

1outof4chance

25%

spermeggs


Therearetwocommonfaults intheHFEgene.ThesearecalledC282YandH63D. AlmostallpeoplewithseverehaemochromatosishavetwocopiesoftheC282Ygenefault.

Around80%ofmenand60%ofwomenwiththedoubledoseoftheC282Ygenefaultwillhaveraisedironlevelsintheirbody.Itisestimatedthatupto45%ofmenand10%ofwomenwhohaveadoubledoseoftheC282Ygenefaultwilldevelopsignificantproblemsfromthissuchaslivercirrhosis.Anunknownpercentagewillhavelesssevereproblems.Thereasonwhysomehaveveryhighironlevelsandseveremedicalproblemswhilstothershavemilderorevennoproblemsisnotwellunderstood.

IfapersonhastwocopiesoftheH63Dgenefault it isveryunlikelythattheywillhaveanyproblemsatall.IfapersonhasonecopyofC282YandonecopyofH63Dtheymaygetraisedironlevels,butitisveryunlikelythattheywillhavesevereproblemssuchaslivercirrhosis.

Therearesomerarer formsofhaemochromatosis thatareduetofaultsindifferentgenes.Ifapersonisdiagnosedwithhaemochromatosisbuthasnormal test results for theHFEgene, testingofothergenescanbearranged.TestingforfaultsotherthanHFEC282YandH63Discomplexand isgenerallydonethroughaclinicalgeneticsdepartment. ClinicalgeneticsdepartmentsexistinallAustralianstates.

How many people are at risk of haemochromatosis?

InAustralia,around1in5peoplehaveasinglecopyoftheH63Dgenefaultand1 in9asingleC282Ygenefault. Around1 in200willhaveadoubledoseoftheC282Ygenefaultandaround1in50hasonecopyofeachoftheC282YandH63Dgenefaults.


Who should be tested?

IfapersonhashaemochromatosisduetofaultsintheHFEgenethentheirrelativesareatincreasedriskofalsohavinghaemochromatosis. Brothersandsistershaveat leasta1in4chanceofhavingthegenefaultsandshouldbeencouraged tobe tested. Childrenofoneparentwhohashaemochromatosishavearounda1in20chanceofhavingthecondition.

ChildrenIt is recommendedthat, ratherthantestingyoungchildrendirectly,thepartneroftheparentwithhaemochromatosisistestedinthefirstinstance.Thishastwopurposes.Firstly,thepartnercanknowwhetherornottheyare at risk of haemochromatosis themselves. Secondly, if they haveneitherC282YnorH63Dthentheirchildrenareatverylowriskofhavinghaemochromatosisanddonotneedtobetested.Ifthepartnerhasoneortwocopiesofthesegenefaultsthenthechildrencanbetested.

It is recommended that thechildren shouldbe tested in late teenageyears or early adulthood so that they can understand the issues thatarerelevanttothemandmakean informedchoiceabouttestinganditsconsequences.ThereisnoevidencethathaemochromatosisduetofaultsintheHFEgeneresultsinsignificantproblemsbeforeadulthoodandthereforethereisnoneedtotestyoungchildren.

OtherrelativesBecause thegene faults for haemochromatosisare socommon,moredistant relatives, including aunts, uncles and cousins, should also beencouragedtobetested.


Somegeneticmutationsgivehumansanadvantage.Itisthoughtthat the mutation that causes haemochromatosis was anadvantage2000yearsagowhereironinthedietwasscarce.ThemutationfirstoccurredintheCeltsandVikingsandspreadaroundtheworldwhenCeltsandVikingsmovedtodifferentpartsoftheworld.

Ourgenesareinourbodyevenbeforewearebornandarethereinourbodyuntilwedie.Wecan’tchangethegenesthatwegetfromourmother’seggcellandourfather’sspermcell.Assumingnormalconception,wecannotcontrolthegeneswhichwepassontoourchildren.


Genotype* Riskofironoverload

Howmanycaucasian

Australianshavethisgenotype?

Normalgenotype noincreasedrisk 2in3

HeterozygousH63Dprobablynoincreased

risk1in5

HeterozygousC282Yprobablynoincreased

risk1in9

HomozygousH63Dveryslightlyincreased

risk1in100

CompoundHeterozygousC282Y/H63D

increasedrisk 1in50

HomozygousC282Y greatlyincreasedrisk 1in200

What is the risk of developing haemochromatosis in my lifetime?

* See Explaining some wordsinsidethebackpageforthemeaningofgenotypes


What might haemochromatosis do to me?

Quick answerIf youhave thegenetic faults for haemochromatosis youareat risk ofoverloadingiron.Toomuchironcandamagevariouspartsofyourbody.Dependingonthelevelofironinyourbodyyoumaydeveloponeormoresymptomsincludingchronicfatigue,jointpain,liverandheartproblems

More information - Contributed by Professor John Olynyk

DevelopingironoverloadThe degree of iron overload which is present in haemochromatosis isinfluencedbymanythings.Thesemaybethoughtofbroadlyasfactorswhichpositively (+) enhanceor reduce (-) thedegreeof iron loading,including:

+aperson’sage(increasedageprovidesalongertimetodevelopironoverload)+theamountofironinaperson’sdiet+theamountofironapersontakesinvitaminpillsandmedications+theamountofalcoholapersondrinks+unidentifiedotherfactorsincludingothergenes–thenumberoftimesapersonhasdonatedblood–bleedingforanyreasonsuchasaccidentsandoperations–formenstruatingwomen,theamountofbloodlostintheirperiods–numberofchildren(pregnancyusesupstorediron)–unidentifiedotherfactorsincludingothergenes

Symptoms of iron overload

Symptomsofhaemochromatosisdonotnecessarilyappearinaparticularorderandnoteverypersonwithhaemochromatosiswillhavesymptoms.Many individuals, especially those who are younger, may have nosymptomsatall.Eachpersonhastheirownindividuallevelatwhichtheymightfeelsymptomsofironoverload.

Generally symptoms develop as iron levels increase. However, somepeoplecanhavehighlevelsofstoredironwithnosymptoms.Theabsenceofsymptomsdoesnotnecessarilyindicatethatthereisnosignificantbodytissuedamageoccurring.


General symptoms of iron overload

Fatigue,weakness,lethargy,apathy,weightloss,abdominalpainandjointaches.

Symptoms of higher levels of iron overload in certain organs

LiverIron overload in the liver causes fibrosis, which generally repairs whenironstoresarereduced.Higherlevelsofironleadtocirrhosis(irreversiblescarringandthedeathoflivercells).

Symptomsinclude:• Painintheliver(underyourrightribcage)duetoliverdamage• Enlargedliver,whichdoctorscallhepatomegaly• Fatigueandweakness• Jaundice(yellownessoftheskinandwhitesoftheeyes)• Reducedbodyhair,itching,easybruisingInthemostseriouscasesironoverloadleadstolivercancer.

HeartIronoverloadintheheartleadsto:• Irregularheartbeatorpalpitationsduetoheartmuscledamage• Shortnessofbreath,breathlessnesswithphysicalactivity• Fatigue• SwollenanklesInthemostseriouscasesironoverloadleadstoheartfailure.

PancreasIronoverloadinthepancreascausesdiabetes.Thesymptomsofthisare:• Thirst• Increasedneedtourinate• Tiredness


• Skininfectionsthatdon’thealwell• Blurryvision• Dizziness• Alwaysfeelinghungry,weightgainorweightloss

Diabetes,ifuntreated,maycausesevereillnessincludingblindness,kidneyfailure,heartattackanddeath.

JointsHaemochromatosis is associated with arthritis. The most commonlyaffectedjointsarethehands,wrists,shoulders,hips,kneesandankles.

SkinIronoverloadmaycausegreyorbronzediscolourationoftheskin.

SexorgansIronoverloadmaycause:• Inwomen,irregularperiods,earlymenopause,lossoflibido• In men, impotence (inability to get or maintain an erection), loss

of libido, shrinking testicles (which doctors call testicular atrophy),developmentofmanboobs(whichdoctorscallgynaecomastia).


Will it happen to me?

Not every person with the commonest genetic mutations linked tohaemochromatosiswilldevelopironoverload.

InAustraliaabout1in3malesand1in30femaleswhoareagedbetween40and70yearsandarehomozygousC282Ywill,atsomestage,developclinicalfeaturesofironoverloaddisease.

Itisdifficulttopredictifandwhensomeonewithgeneticmutationslinkedtohaemochromatosiswilldevelopironoverload,so life-longmonitoringof iron levels iscrucial.Mostmenandwomenwhowilldevelopclinicalproblemsrelatedtoironoverloadwillhavedonesobytheageof55-60years.

Itisimportanttorememberthatmanyofthesymptomsthatareassociatedwith haemochromatosis may have other causes. If a new, unusual orworryingsymptomdevelops,it’sagoodideatogetacheck-upwithyourdoctor.

Do I need to see a specialist?

Quick answerEveryGPhastheirown levelofexperience in lookingafterpeoplewithhaemochromatosis.Your GP might have lots of experience and feel very comfortable inlookingafteryou.However,yourGPmightnothavemuchexperienceinlookingafterpeoplewithhaemochromatosisandmightwishtoaskfortheadviceandinputofaspecialist.

More information - Contributed by Professor Lawrie Powell

Thefollowingaresomereasonsforapersonwhohashaemochromatosistobereferredtoaspecialist:

• SerumFerritin(SF)morethan1000µg/Latthetimeofdiagnosis• Ironoverloadwithouttypicalgenotype(HomozygousC282Yor

CompoundHeterozygousC282Y/H63D)• Abnormalliverfunctiontestsatthetimeofdiagnosis• Enlargedliveratthetimeofdiagnosis• Alcoholdependency.


Sometimes,furthertestsareneededtogetabetterideaofwhetherthereareanycomplicationsofhaemochromatosis.

Theorganmostdirectlyaffectedbythisconditionistheliver.Thereforethespecialistsmostoftenusedaregastroenterologistsorhepatologists.Otherspecialistswilladviseonheart,jointandothermattersasrequired.

Inanycase,youalwayshavethe right toseekanotheropinion fromadifferentGPorfromaspecialist.

How is haemochromatosis treated?

Quick answerKeepironstoresatasafelevel.Havebloodteststocheckyourlevelandhavebloodtakenasnecessarytounloadiron.

More information - Contributed by Professor John Olynyk

The goals of treatmentThegoaloftreatmentofhaemochromatosis istorestoreironlevelstoasafelevelassoonaspossible,andtomaintainlife-longsafeironlevels.Thisisbecausehavingsafeironlevelsreducesthesymptomsofironoverloadandcanhelpavoidthecomplicationsofhaemochromatosis.

Early diagnosis and treatment prevents complications and results in anormallifeexpectancy.

What if I have the genetic mutations but do not have iron overload?

Youshouldarrangewithyourdoctortomonitoryourironlevelsevery12months.YouneedtakenootheractioniftheyremaininthenormalrangeSerumferritin-20–300µg/lformen,10–200µg/lforwomen.


How can iron levels be reduced?

Venesection, or removal of 300-500mls of blood via a needle into thearm(thesamemethodasblooddonation),isthemaintreatmentofironoverloadinpeoplewithhaemochromatosis.

Sincethe1940s,venesectionshavebeensafelyusedinthetreatmentofhaemochromatosis. This treatment isa safe,effective,andeconomicalway of removing iron from the body. Rarely, some individuals cannotreceivevenesectiontherapy.Forthesepeople,specialdrugscalled“ironchelators”canbeadministeredtoremovestoredironfromorganssuchastheliver,heart,andpancreas.

Haemochromatosisisnotablooddisease.Thustheredbloodcellsofanindividual with haemochromatosis can be safely transfused into otherindividuals,providingthepersonhasnoothercontraindicationtobeingablooddonor.ThisisthemainreasonwhytheAustralianRedCrossBloodServiceprovides treatment tohaemochromatosispatients – theyareawonderfulsourceofblooddonors.

How can removal of blood remove stored iron?

Yourbodycontainsabout5litresofblood.Yourbonemarrowisthebloodcell factoryofyourbody.Routinely inthehumanbody, redbloodcellsarerecycledevery3months.Ifyoulosebloodbybleedingordonatingblood,yourbonemarrowcanreplacethatlostbloodaslongasyouhaveenoughiron,vitaminB12andfolate.Thisisbecauseiron,vitaminB12andfolateareingredientsusedtomakenewredbloodcells.

Afterbloodisremovedbyavenesection,someoftheironthatisstoredinthebodymovesoutofstorageandbecomesavailabletohelpmakenewredbloodcells.

If you have haemochromatosis and are iron overloaded and haveadequate vitamin B12and folateavailable, yourbonemarrowwill beabletomakenewredbloodcellseverytimeyouhaveavenesection.


Astandard500mlvenesectionremoves0.25gramsofironfromthebody.(Thatisequivalenttotheamountofironina40mmnail).

Ittakes4venesectionstoremove1gramofexcessiron(4nails)Apersonwithmoderateironoverloadmayhavebetween4and10gramsofexcessiron,whichwilltakebetween16and40venesectionstoreducetonormallevels.

Severe iron overloadmaybe up to 40 grams of excess ironwhichwillrequireupto160venesectionstoreducetonormallevels.

This is one way of understanding the iron level test results*notveryusefulinthediagnosisandmonitoringofironoverload**veryusefulinthediagnosisandmonitoringofironoverload

Ironleveltestname ExplanationIfitwasmoney,itwouldrepresent

SerumIron* ironinthebloodstream“loosechangeinyourpocket”

TIBC*abilitytogeteven

moreiron“greedinessformoremoney”

TransferrinSaturation**irontransportedaround

thebody“moneykeptinyourwallet”

SerumFerritin** ironstored“thesavingsyouhave

inyourbank”


The treatment of haemochromatosis is in two phases:

1. Iron unloading phase Thiscontinuesuntilstoredbodyironlevelsareatthelowerendofnormal• weeklyvenesections• itmaytakemanymonthstounloadexcessstorediron• theaimistohaveanormalhaemoglobinandSerumFerritinofabout

20-50µg/L(alownormalrangevalue)

2. Life-long maintenance phase• monitoringironlevelsatleastevery12months,usuallyevery3months• enoughvenesectionseveryyearofyour lifetokeepyour ironstores

atasafelevel

The number of venesections required tomaintain your iron stores at asafelevelishighlyvariablebetweenindividuals.Herearesomeinterestingfacts:• inwomenwhomenstruate,bloodlosseachyearisaboutthesameas

2venesectionseachyear• menstruatingwomenusuallyneed1-2venesectionseachyear• men and non-menstruating women usually need 3-4 venesections

eachyear

How do I know if my treatment is on track?

Therearea fewthings to lookatwhen interpretingyourbloodtests,asthesetestresultsguidehowoftenvenesectionsarerequired.

Firstly,thenumberofredbloodcellsinyourblood.this is measured by Haematocrit or Haemoglobin. You need to havea normal Haemoglobin before having a venesection. Having lowhaemoglobin is called anaemia – avoid this! You should not have avenesectionifyouareanaemic.

Secondly,theamountofstoredironinyourbody,oryourironlevels.ThebestguideofyourironstoresisyourSerumFerritinLevelitisthemostusefultesttoguidehowmanyvenesectionsareneeded.

Venesections need to be slowed down if:

1.YourHaemoglobinistoolowbecauseyourbodyhasn’treplacedyourredbloodcellsjustyet.2.YourSerumFerritinistoolowbecauseyouarenolongerironoverloaded.


What about diet?

Youshouldhaveahealthy,nutritiousdiet.Thiswillincludefoodswiththesmallamountofironthatyoucontinuetoneed.

Haemochromatosiscannotbetreatedbydiet.

Anyexcessironabsorbedbythebodymustberemovedbyvenesectioneventually.

A500mlvenesectionremoves0.25gofiron,whichisroughlyequivalentto2to6months’worthofironabsorbedfromyourdiet.

Soeatwhatyoulike,aslongasyouparticipateinlife-longmonitoringofironlevelsandyouhaveenoughvenesectionseveryyearofyourlifetokeepyourironstoresatsafelevels.

IfyouarehavinglotsofvenesectionsextravitaminB12andfolate,eitherinyourdietortakenasasupplement,canbeveryhelpful.

What about seafood?

Peoplewithhighironlevelsshouldbecarefuleatingrawseafood.

• Vibriovulnificusisabacteriumthatcancauserapidandlifethreateningsepticaemia

• ItisrarebutnotunknowninAustralianwaters• ItthrivesinthebloodofpeoplewithhighSerumFerritin• Itisfoundinrawseafood,particularlyinrawoystersandrawclams• Cookingtheseafooddestroysthebacterium• ItcanbefoundinseafoodfromIndia,AsiaandMexico• Peoplewithhighserumferritinshouldwatchcutsandabrasionswhichoccurinseawaterandseekhelpiftheydonothealwell.


A healthy, nutritious diet

Forgoodhealth,choosefresh,unprocessedfoodsthatarehighinnutrientsandlowinsaturatedfats.Enjoyawidevarietyofnutritiousfoods:• eatplentyofvegetables, fruitsand legumes (beans,bakedbeans,

chickpeas,lentils)• eat plenty of cereals (including breads, rice, pasta and noodles),

preferablywholegrain• includeleanmeat,fish,poultryorvegetarianalternatives• includelow-fatdairyfoodssuchasmilk,yoghurtandcheeses• drinkplentyofwater

andtakecareto:• eatonlymoderateamountsofsugarsandfoodscontainingadded

sugars• choose lower fat foods and limit saturated fat in your diet (butter,

cream,meatfats)• choosefoodslowinsalt• drinkwithinthesafelimitsifyouchoosetodrink(maximum2standard

drinksperdaywithtwoalcohol-freedayseachweek).

Iron supplements are best avoided.Iron fortified foods and drinks are best avoided. These include somebreakfastcereals,somekindsofmilk,orangejuices,‘energyfooddrinks’andmanysportsenergybarsanddrinks.

What about alcohol?

Any alcohol consumed can increase liver problems and increaseiron absorption. Limit your alcohol intake to safe drinking levels asrecommendedbytheNationalHealthandMedicalResearchCouncilofAustralia.

Ifyouhaveanyliverinjurythenyoushouldnotconsumeanyalcohol.

AustralianAlcoholGuidelines• For healthymenandwomen,drinkingnomore than two standard

drinks on any day reduces your risk of harm from alcohol-relateddiseaseorinjuryoveralifetime.

• Drinking no more than four standard drinks on a single occasionreducestheriskofalcohol-relatedinjuryarisingfromthatoccasion.


Where do I go for venesection?

Quick answerTalktoyourdoctorabouttheoptionsinyourarea.Haemochromatosisisnotabloodcondition.Subjecttootherillnessortreatment,yourbloodisusefulforotherpeople.

Some options

Red Cross Blood Service

Contributed by - Dr Barbara Bell, National Blood Services ManagerAustralian Red Cross Blood ServiceThe Australian Red Cross Blood Service (the Blood Service) has atherapeuticvenesectionprogramforindividualswhohaveironoverloadasaresultofhereditaryhaemochromatosis(HH),whichisfundedbytheNationalBloodAuthorityonbehalfofallAustraliangovernments.

ManypeoplewithhaemochromatosiscanattendtheBloodServiceforvenesectionandtheBloodServiceisabletouseyourdonationtohelpsavelives.Ifyouarenoteligibletodonatebloodwhichcanbeusedtotreatpatientsbecauseofmedicalor lifestyleconsiderations, theBloodServicemaybeabletoofferatherapeuticvenesectionservice.

It is of utmost importance thatwhen you attend the Blood Serviceyoualwaysanswerourquestionshonestly inordertoensureyoursafetyandthesafetyofthepatientswhomayreceiveyourblood.WhilstmanypeoplewithhaemochromatosisandironoverloadareeligibletoundergotherapeuticvenesectionwiththeBloodService,therearesomepeopleforwhomthisisnotanoption. Because ensuring the safety of Australia’s blood supply is the BloodService’spriority,peoplewhohaveevidenceof infectionwithanyviruswhich is spread through exposure to infected blood (hepatitis B,hepatitis C or HIV infection)arenoteligible for the Blood Servicetherapeuticvenesectionprogram.TheBloodServicetestsforthesevirusesateveryattendance.Ifyouhaveoneoftheseinfections,yourdoctorwillneedtoorganisetreatmentelsewhere.


TheBloodService iscommittedtocaringfordonors’healthandsafety.It is not able to provide one-on-one nursing ormedical supervision fordonors,andbecauseof this thereareanumberofmedicalconditionswhichmakeindividualsunsuitableforvenesectionattheBloodService.

Peoplewithknownheartdisease(heartattack,angina,heartfailure,andabnormalitiesofheartrhythm),andthosewhohavesufferedfromothervasculardisease(stroke,TIA,diseaseofthebloodvesselsinthelegs)arenotabletoundergovenesectionwiththeBloodService.Ifyouhaveoneoftheseconditions,yourdoctorwillneedtoorganisetreatmentinafacilitywherehighlevelsofmedicalandnursingsupervisionoftheprocedureispossible.

Individualswhocarryonegeneforhaemochromatosisarenoteligibleforthetherapeuticvenesectionprogram.However,theyareabletoattendtheBloodServiceanddonateasanormalblooddonor,atamaximumfrequency of once every 12 weeks. It is important to note that theseindividualsmustmeetallthedonoreligibilitycriteriaforblooddonation.Moreinformationabouteligibilityasablooddonorcanbefoundatwww.donateblood.com.au. TheBlood Servicedoesnotperformanymonitoringof ferritin levels fortherapeuticdonorsandit isofutmost importancethateveryonewhoisontheBloodServicetherapeuticvenesectionprogramcontinuestoseetheirtreatingdoctorregularly.

Ifyouneedvenesectionmorefrequentlythanonceevery12weeks,yourdoctorwillneedtoreviewyourvenesectionscheduleregularly(atleastonceevery12months).Ifyouundergovenesectiononceevery12weeksorlessoften,annualreviewisnotrequiredunlessyourdoctorconsidersitisnecessarytoincreasethefrequencyofyourvenesection.


Online Referral to Australian Red Cross Blood Service TheAustralianRedCrossBloodServiceoffersanonlinereferralserviceforyourdoctortoreferyoutothetherapeuticdonorprogram.The High Ferritin application allows doctors to provide all necessaryinformation required to assess your suitability for the program so thatvenesectionscancommencequickly.Treatingdoctorscanaccessthereferralapplicationatwww.highferritin.transfusion.com.au

Forthedetailsofthetherapeuticvenesectionpolicyyourdoctorcanreferto www.transfusion.com.au/high_ferritin

Public HospitalsSome public hospitals offer venesection through gastroenterology,haematologyorcanceroutpatientclinics.Thisserviceisfree.Generally theblood isdiscardedbut somehospitalclinics, suchas theoneattheRoyalBrisbaneandWomen’sHospital,makegooduseofthebloodforresearchpurposes.

Private Pathology ServicesSomeprivatepathologyservicesoffervenesectionona fee for servicebasis.AproportionofthesewillcollectthefullfeedirectlyfromMedicare.Others will charge the patient who then gains partial recovery fromMedicare.Thebloodcollectedisdiscarded. General Practice and Medical ClinicsSomeGeneralPracticeandmedicalclinicsoffervenesection.Paymentarrangementsare the sameas forprivatepathology servicesand thusfreeforsomepatientsbutatasubsidisedcosttoothers.Thebloodcollectedisdiscarded.

Day SurgeryOccasionally people with particular difficulties are admitted to daysurgery units for venesection. In public hospitals this service is free ofcharge.Feesatprivatehospitalsmaybepartlyorfullycoveredbyprivatehealthinsurance.Thebloodcollectedisdiscarded.



Further information and supportHaemochromatosisAustralia

HaemochromatosisAustralia isthenot-for-profitsupport,advocacyandhealthpromotiongroupforAustraliansaffectedbyhaemochromatosis.

• Weprovidesupportandinformationforpeoplewithhaemochromatosisandtheirfamilies.

• Wepromoteawarenessofthedisorderandtheneedforearlydiagnosis.• Weencourageandfosterresearchintohaemochromatosis

FormoreinformationcontactusonourInformationLine1300019028.LocalcallfeefromanylandlineinAustralia,Monday-Friday9:00am-5:00pm.Orvisitourwebsitewww.ha.org.au

Become a memberYou can join or make a donation to Haemochromatosis Australia onourwebsitewww.ha.org.au/supportus, by completing the form on thefollowingpageorbycalling1300019028.Bybecomingamemberormakingadonationyouwillhelpustoreducetheimpactofhaemochromatosis.Membersreceivearegularnewsletteranduptodateinformation.

Haemochromatosis VideosView our helpful haemochromatosis videos at www.youtube.com.au/haemochromatosisaust

A Practical Guide to Haemochromatosis This is a most comprehensive book that has been prepared byMargaretRankinAM,founderofHaemochromatosisAustralia.Itwasfirstpublishedin1991andhasbeenregularlyupdated.Itisprovidedfreeofchargetoallnewmembers.

More organisations providing support and information• ArthritisAustralia-www.arthritisaustralia.com.au1800011041

• DiabetesAustralia-www.diabetesaustralia.com.au1300136588

• HeartFoundation-www.heartfoundation.org.au1300362787

• AustralianRedCrossBloodServicewww.donateblood.com.au 131495

• DigestiveHealthFoundation(GastroenterologicalSocietyofAustralia)

www.gesa.org.au

26 Haemochromatosis-YourQuestionsAnswered

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Explaining some words

Genotype-thedescriptionofageneMutation-afaultinageneNormal genotype- nomutationHeterozygous-onemutatedgeneandonenormalgeneHomozygous- twomutatedgeneswiththesamemutationCompound Heterozygous-twomutatedgeneswithdifferentmutationsVenesection and Phlebotomy-bothwordsmeangivingblood Does having the genetic mutations mean that I have haemochromatosis?

Some people would say that you do not havehaemochromatosisunlessanduntilyouhaveironoverload.They would say that if you are homozygous C282Y orcompoundheterozygousthenyouhaveapredisposition to haemochromatosis. Thismeansyouareoneof thepeoplewhomaydevelopironoverload.

Otherswouldsaythatifyouhavethemutationsyouhavegotthecondition.

Thereisnoclearagreementonthisuseoftheword.

In some places haemochromatosis is called Inherited Iron Overload Disorder.

Insomeplacesitisspelthemochromatosis.


Firstedition:May2012Secondedition:May2013Thirdedition:August2014Fourthedition:May2017©HaemochromatosisAustralia

ISBN-13978-0-9875581-2-1

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