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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)
Haemochromatosis-YourQuestionsAnswered4
• 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%
Haemochromatosis-YourQuestionsAnswered 5
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
Haemochromatosis-YourQuestionsAnswered6
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.
Haemochromatosis-YourQuestionsAnswered 7
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.
Haemochromatosis-YourQuestionsAnswered8
Somegeneticmutationsgivehumansanadvantage.Itisthoughtthat the mutation that causes haemochromatosis was anadvantage2000yearsagowhereironinthedietwasscarce.ThemutationfirstoccurredintheCeltsandVikingsandspreadaroundtheworldwhenCeltsandVikingsmovedtodifferentpartsoftheworld.
Ourgenesareinourbodyevenbeforewearebornandarethereinourbodyuntilwedie.Wecan’tchangethegenesthatwegetfromourmother’seggcellandourfather’sspermcell.Assumingnormalconception,wecannotcontrolthegeneswhichwepassontoourchildren.
Haemochromatosis-YourQuestionsAnswered 9
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
Haemochromatosis-YourQuestionsAnswered10
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.
Haemochromatosis-YourQuestionsAnswered 11
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
Haemochromatosis-YourQuestionsAnswered12
• 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).
Haemochromatosis-YourQuestionsAnswered 13
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.
Haemochromatosis-YourQuestionsAnswered14
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.
Haemochromatosis-YourQuestionsAnswered 15
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.
Haemochromatosis-YourQuestionsAnswered16
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”
Haemochromatosis-YourQuestionsAnswered 17
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.
Haemochromatosis-YourQuestionsAnswered18
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.
Haemochromatosis-YourQuestionsAnswered 19
Haemochromatosis-YourQuestionsAnswered20
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.
Haemochromatosis-YourQuestionsAnswered 21
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.
Haemochromatosis-YourQuestionsAnswered22
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.
Haemochromatosis-YourQuestionsAnswered 23
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.
Haemochromatosis-YourQuestionsAnswered24
Haemochromatosis-YourQuestionsAnswered 25
Further information and supportHaemochromatosisAustralia
HaemochromatosisAustralia isthenot-for-profitsupport,advocacyandhealthpromotiongroupforAustraliansaffectedbyhaemochromatosis.
• Weprovidesupportandinformationforpeoplewithhaemochromatosisandtheirfamilies.
• Wepromoteawarenessofthedisorderandtheneedforearlydiagnosis.• Weencourageandfosterresearchintohaemochromatosis
FormoreinformationcontactusonourInformationLine1300019028.LocalcallfeefromanylandlineinAustralia,Monday-Friday9:00am-5:00pm.Orvisitourwebsitewww.ha.org.au
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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.
Haemochromatosis-YourQuestionsAnswered 27
Firstedition:May2012Secondedition:May2013Thirdedition:August2014Fourthedition:May2017©HaemochromatosisAustralia
ISBN-13978-0-9875581-2-1
PublishedbyHaemochromatosisAustralia,thenotforprofitsupportandadvocacygroupforpeoplewithhaemochromatosisandtheirfamilies.
Contact Us:INFOLINE1300019028www.ha.org.auPublications@ha.org.auPOBox6185MERIDANPLAINSQLD4551