ABGC Exam With 100% Correct And
Verified Answers 2025
Holt-OramTSyndromeT-TCorrectTAnswer-TBX5,TAD,ThighTpenetrance,T1/3TdeTnovo
UpperTlimbTdefectsT(preaxialTradialTrayTanomaly:Tradial,TcarpalTandTulnarTbones),Tcon
genitalTheartTmalformationT(mostlyTSecundumTatrialTseptalTdefect)TandTconductionTdis
ease.
ReferTtoTcardio,Torthopedist,ThandTsurgeon.
HereditaryTHemorrhagicTTelangiectasiaT-TCorrectTAnswer-
AD,TLOFTmutationsTinTENGT(40-60%),TACVRL1T(25-55%),TorTSMAD4T(1-
2%),TorTGDF2T(rare).TSMAD4TmutationsTcanTalsoTcauseTJuvenileTPolyposisTSyndrom
e.T
LargeTAVMsTcanTpresentTinTtheTlungs,Tliver,TandTbrain.TtelangiectasesTinToral/
nasalTcavity,Tlips,Tface,Tchest,TandTfingers,TusuallyTonsetTinTlateTteens.TFrequentTepist
axis:T95%,TonsetTatT12yo.
GITbleeding:T25%,TusuallyTonsetTafterT50yo
BrugadaTsyndromeT-TCorrectTAnswer-
AD,T23Tgenes,TusuallyTLOFTinTSMAD4.TonlyT1%TdeTnovo.
CardiacTconductionTabnormality,TcanTcauseTsyncope,TVTfib,TcardiacTarrest,TsuddenTde
athT(SIDSTorTSUNDS).
MostTcommonTinTSETAsians.
FactorTVTLeidenT-TCorrectTAnswer-MostTcommonTinheritedTthrombophilia:T3-8%TUS/
EUTpopTareThetsT(homosTatThigherTriskTofTVTEs).
AD,Tc.1691G>ATvariantTinTF5TgeneT->TfactorTVTnotTcleavedTbyTActivatedTProteinTCT-
>TpoorTcoagulation.TIncompleteTpenetrance.
ClinTfeat:TvenousTthromboembolismT(egTDVT),TPE,TespTduringTpreg.
HemophiliaTAT-TCorrectTAnswer-X-linked,TF8Tgene.
DeficiencyTinTfactorTVIIIT(8)TclottingTactivityT->TslowTcoagulation,TprolongedTbleeding.
100%TpenetrantTinTmales.T30%TofTfemaleThetsThaveTlowTclottingTactivityT(<40%)T-
>TatTriskTofTbleeding.
ClinTfeat:TlowTfactorTVIIITclottingTactivityTinTpresenceTofTnormalTvonTWillebrandTfactorTl
evel,TprolongedTaPTT,TnormalTPT.
Severe:T<1%TfactorTVIII,TdxTbyT2yo.TspontaneousTjointTbleedsT(hemarthrosis),Tbleedin
gTfromTmouthTinjuries,
spontaneousTdeep-muscleTbleeds/hematomas.
Moderate:TdxTbyT6yo,TrarelyTspontTbleeds,TprolongedToozing.
Mild:TdxTlaterTinTlifeTafterTsurgery/
trauma,TnoTspontTbleeds,TabnormalTbleedingTwithTsurgery.
HemophiliaTBT-TCorrectTAnswer-X-linked,TF9Tgene.
,DeficiencyTofTfactorTIXT(9)TclottingTactivityT-
>TprolongedToozingTafterTinjuries,TtoothTextractions,TorTsurgery,TandTdelayedTorTrecurr
entTbleeding.
LessTprevalentTthanTHemophiliaTA.
SeverityTscaleTsimilarTtoTHemoTA.
HereditaryTHemochromatosisT-TCorrectTAnswer-AR,THFETgeneT-
>TInappropriatelyThighTabsorptionTofTironTbyTsmallTintestine.
LowTpenetrance:T75%-
90%TofTindividualsTwithTHFEThemochromatosisTareTasymptomatic.
ClinTfeats:TabdominalTpain,Tweakness,Tlethargy,TheartTfailure,Tarrythmias,Tweightloss,T
diabetes,TliverTcirrhosis,TliverTcancer.
22q11.2TdeletionT-TCorrectTAnswer-
AD,TdelTincludesTTBX1Tgene.TCompleteTpenetrance,TvariableTexpressivity:TincludesTDi
GeorgeTandTVelocardiofacialTphenotypes.
MostTcommonTmicrodelTsyndrome.
ClinTfeats:TimmuneTdeficiencyTdueTtoTthymicThypoplasia,TpalatalTabnorms,TCHDT(espT
conotruncalTmalforms:TVSD,TTOF,TinterruptedTaorticTarch,TtruncusTarteriosus),Tdelays,
Tnonverbal,TcharacteristicTfacies,Tseizures,TrenalTabnorms,TpsychiatricTillness,THL.
AlagilleTsyndromeT-TCorrectTAnswer-AD,TJAG1T>TNOTCH2
·T>50%TdeTnovo
VariableTexpressivity,TevenTinTfamilies.TReducedTpenetrance.
ClinTfeats:TliverTdiseaseTbyT3mo,TbileTductTpaucity/
cholestasis,TCHDT(pulmonaryTstenosis,TTOF),TbutterflyTvertebrae,TophthoTabnorms,Tch
aracteristicTfacies,TrenalTabnorms.
AcuteTIntermittentTPorphyriaT(AIP)T-TCorrectTAnswer--
TAD,THMBSTgene,TlowTpenetranceT(1-10%,TmostlyTreproTageTfemales).
-TIncreasedTALATandTPBGT->Tneurotoxic.
GoldTstandardTtestTisTspotTurineTPBGTduringTacuteTattack.
-
TUrineTturnsTdarkTuponTstanding,TabdominalTpain,Tseizures,Thyponatremia,Ttachycardi
a,TbreathingTproblems,Tnausea,Tconfusion,TlowerTextremityTweakness.TCanTcauseTchr
onicTkidneyTdisease.
TX:TavoidTtriggers,TopiodsTforTpain,TheminTtx,TgivosiranT(siRNA),TliverTtransplant.
AlphaTThalassemiaT-TCorrectTAnswer-
AR,THBA1TandTHBA2TgenesT(chromT16,THBA2TtranscribedTmore,TencodeTalphaTglobi
nTchainT(NOTsubstitute!)).
Normally,TalphaTglobinTpairsTwithTbetaTglobinTtoTproduceTHbA.
LackTofTalphaTglobinT-
>TbetaTglobinTtetramersT(HbH)TorTgammaTglobinTtetramersTinTfetusT(HbBarts).
90%TdueTtoTdeletionsT(commonTalphaT3.7kbTdel).TConstantTSpringTmutationToccursTin
THBA2.
, HBA1/2TduplicationsTcombinedTwithTbetaTthalTtraitTcanTcauseTbetaTthalTintermedia.
MostTcommonTinTSETAsians,TAfricans,TMidTEasters.
Testing:TdoTCBCTandThemeTelect!
AlphaTthalassemia:T4TphenotypesT-TCorrectTAnswer--TSilentTcarrier:T(aa/
a-),TnormallyTasymptomatic.
-TTrait:T(a-/
a-)TorT(aa/--),TmildTanemia,TnoTchangesTonTHbTelect,ToftenTconfusedTwithTironTdeficie
ntTanemia.TCisTisTmoreTclinicallyTsignificant,TasTpotentialTtoThaveTbabyTwithTHydropsTf
etalisT(--/--)TifTpartnerTalsoTisTcarrierTinTcis.
-
THbHTdisease:T(a-/--)TorT(aCSa/--),Tanemia,Tsplenomegaly,Tjaundice,TsomeTrequireTtra
nsfusions.TConstantTSpringTphenotype:TmoreTsevereTthanTHbH,TmoreTtransfusionsTne
eded.
-THbBartsTdisease/
HydropsTfetalis:T(--/--),TincompatibleTwithTlifeT(unlessTinTuteroTtransfusionsTwithTBMT),T
usuallyTstillbornTofTneonatalTdeath.
BetaTThalassemiaT-TCorrectTAnswer-
AR,THBBTgeneT(chromT11)TencodesTbetaTglobinTsubunit.
95%TcarriersThaveTpointTmutations.TCanTbeTamelioratedTbyTcoinheritanceTofThereditar
yTpersistenceTofTfetalThemoglobinT(gammaTglobin).
CBCTmoreTaccurateTthanTgeneticTtesting.THbTelectTwillTshowTlowTorTnoTHbA.
BetaTThal:TQuantitativeTDefectTphenotypesT-TCorrectTAnswer--TBetaTthalTminorT(trait/
carrier):Thet,TusuallyTasymptomatic,TmildTanemia,TincreasedTHbFTandTHbA2T(canTbeT
maskedTbyTironTdeficientTanemia,TwhichTwillTlowerTHbA2).TAlsoTcheckTforTHBA1/2Tdu
plications!
-TBetaTthalTintermedia:ThomozygousTforTmilderTcomboTofTvariants,Tmild-
modTanemia,Thepatosplenomegaly,Tosteoporosis,TinfusionsTNOTTneeded.
-TBetaTthalTmajor/Cooley'sTanemia):ThomozygousTforTsevereTvariantsT-
>TnoTbetaTchainsTproduced,TsevereTheolyticTanemiaTbyT1yoT-
>TexpansionTofTboneTmarrowT-
>TskeletalTdeformities,Tjaundice,Thepatosplenomegaly,Themochromatosis,Tgallstones,T
delayedTgrowth,ThighTmortalityTw/oTtransfusions,TBMT/
cordTbloodTtransplantTareTcurative.
SickleTCellTDiseaseT(SCD)T-TCorrectTAnswer-AR,THbSTvariantTinTHBBT(p.Glu6Val)
-
TSickleTcellTtrait:ToneTHbSTallele.T1/12TAfricanTAmericansTareTSickleTcellTtrait.TUsually
Tasymptomatic,TriskTofTcomplicationsTatTaltitude,TextremeTexertion,Tdehydration:TPE,Tr
habdo,TsuddenTdeath.
-
TSickleTCellTDiseaseT(SCD):TAR,ThomoTforTHbSTalleleTorTcompoundTHbST+TotherTHB
BTalleleT(egTHbE,THbC),TsevereTanemia,TintermittentTvaso-occlusiveTeventsT-
>TPAIN,TswellingTofThands/feet,TorganTdamage,TreducedTlifeTexpectancy.
Verified Answers 2025
Holt-OramTSyndromeT-TCorrectTAnswer-TBX5,TAD,ThighTpenetrance,T1/3TdeTnovo
UpperTlimbTdefectsT(preaxialTradialTrayTanomaly:Tradial,TcarpalTandTulnarTbones),Tcon
genitalTheartTmalformationT(mostlyTSecundumTatrialTseptalTdefect)TandTconductionTdis
ease.
ReferTtoTcardio,Torthopedist,ThandTsurgeon.
HereditaryTHemorrhagicTTelangiectasiaT-TCorrectTAnswer-
AD,TLOFTmutationsTinTENGT(40-60%),TACVRL1T(25-55%),TorTSMAD4T(1-
2%),TorTGDF2T(rare).TSMAD4TmutationsTcanTalsoTcauseTJuvenileTPolyposisTSyndrom
e.T
LargeTAVMsTcanTpresentTinTtheTlungs,Tliver,TandTbrain.TtelangiectasesTinToral/
nasalTcavity,Tlips,Tface,Tchest,TandTfingers,TusuallyTonsetTinTlateTteens.TFrequentTepist
axis:T95%,TonsetTatT12yo.
GITbleeding:T25%,TusuallyTonsetTafterT50yo
BrugadaTsyndromeT-TCorrectTAnswer-
AD,T23Tgenes,TusuallyTLOFTinTSMAD4.TonlyT1%TdeTnovo.
CardiacTconductionTabnormality,TcanTcauseTsyncope,TVTfib,TcardiacTarrest,TsuddenTde
athT(SIDSTorTSUNDS).
MostTcommonTinTSETAsians.
FactorTVTLeidenT-TCorrectTAnswer-MostTcommonTinheritedTthrombophilia:T3-8%TUS/
EUTpopTareThetsT(homosTatThigherTriskTofTVTEs).
AD,Tc.1691G>ATvariantTinTF5TgeneT->TfactorTVTnotTcleavedTbyTActivatedTProteinTCT-
>TpoorTcoagulation.TIncompleteTpenetrance.
ClinTfeat:TvenousTthromboembolismT(egTDVT),TPE,TespTduringTpreg.
HemophiliaTAT-TCorrectTAnswer-X-linked,TF8Tgene.
DeficiencyTinTfactorTVIIIT(8)TclottingTactivityT->TslowTcoagulation,TprolongedTbleeding.
100%TpenetrantTinTmales.T30%TofTfemaleThetsThaveTlowTclottingTactivityT(<40%)T-
>TatTriskTofTbleeding.
ClinTfeat:TlowTfactorTVIIITclottingTactivityTinTpresenceTofTnormalTvonTWillebrandTfactorTl
evel,TprolongedTaPTT,TnormalTPT.
Severe:T<1%TfactorTVIII,TdxTbyT2yo.TspontaneousTjointTbleedsT(hemarthrosis),Tbleedin
gTfromTmouthTinjuries,
spontaneousTdeep-muscleTbleeds/hematomas.
Moderate:TdxTbyT6yo,TrarelyTspontTbleeds,TprolongedToozing.
Mild:TdxTlaterTinTlifeTafterTsurgery/
trauma,TnoTspontTbleeds,TabnormalTbleedingTwithTsurgery.
HemophiliaTBT-TCorrectTAnswer-X-linked,TF9Tgene.
,DeficiencyTofTfactorTIXT(9)TclottingTactivityT-
>TprolongedToozingTafterTinjuries,TtoothTextractions,TorTsurgery,TandTdelayedTorTrecurr
entTbleeding.
LessTprevalentTthanTHemophiliaTA.
SeverityTscaleTsimilarTtoTHemoTA.
HereditaryTHemochromatosisT-TCorrectTAnswer-AR,THFETgeneT-
>TInappropriatelyThighTabsorptionTofTironTbyTsmallTintestine.
LowTpenetrance:T75%-
90%TofTindividualsTwithTHFEThemochromatosisTareTasymptomatic.
ClinTfeats:TabdominalTpain,Tweakness,Tlethargy,TheartTfailure,Tarrythmias,Tweightloss,T
diabetes,TliverTcirrhosis,TliverTcancer.
22q11.2TdeletionT-TCorrectTAnswer-
AD,TdelTincludesTTBX1Tgene.TCompleteTpenetrance,TvariableTexpressivity:TincludesTDi
GeorgeTandTVelocardiofacialTphenotypes.
MostTcommonTmicrodelTsyndrome.
ClinTfeats:TimmuneTdeficiencyTdueTtoTthymicThypoplasia,TpalatalTabnorms,TCHDT(espT
conotruncalTmalforms:TVSD,TTOF,TinterruptedTaorticTarch,TtruncusTarteriosus),Tdelays,
Tnonverbal,TcharacteristicTfacies,Tseizures,TrenalTabnorms,TpsychiatricTillness,THL.
AlagilleTsyndromeT-TCorrectTAnswer-AD,TJAG1T>TNOTCH2
·T>50%TdeTnovo
VariableTexpressivity,TevenTinTfamilies.TReducedTpenetrance.
ClinTfeats:TliverTdiseaseTbyT3mo,TbileTductTpaucity/
cholestasis,TCHDT(pulmonaryTstenosis,TTOF),TbutterflyTvertebrae,TophthoTabnorms,Tch
aracteristicTfacies,TrenalTabnorms.
AcuteTIntermittentTPorphyriaT(AIP)T-TCorrectTAnswer--
TAD,THMBSTgene,TlowTpenetranceT(1-10%,TmostlyTreproTageTfemales).
-TIncreasedTALATandTPBGT->Tneurotoxic.
GoldTstandardTtestTisTspotTurineTPBGTduringTacuteTattack.
-
TUrineTturnsTdarkTuponTstanding,TabdominalTpain,Tseizures,Thyponatremia,Ttachycardi
a,TbreathingTproblems,Tnausea,Tconfusion,TlowerTextremityTweakness.TCanTcauseTchr
onicTkidneyTdisease.
TX:TavoidTtriggers,TopiodsTforTpain,TheminTtx,TgivosiranT(siRNA),TliverTtransplant.
AlphaTThalassemiaT-TCorrectTAnswer-
AR,THBA1TandTHBA2TgenesT(chromT16,THBA2TtranscribedTmore,TencodeTalphaTglobi
nTchainT(NOTsubstitute!)).
Normally,TalphaTglobinTpairsTwithTbetaTglobinTtoTproduceTHbA.
LackTofTalphaTglobinT-
>TbetaTglobinTtetramersT(HbH)TorTgammaTglobinTtetramersTinTfetusT(HbBarts).
90%TdueTtoTdeletionsT(commonTalphaT3.7kbTdel).TConstantTSpringTmutationToccursTin
THBA2.
, HBA1/2TduplicationsTcombinedTwithTbetaTthalTtraitTcanTcauseTbetaTthalTintermedia.
MostTcommonTinTSETAsians,TAfricans,TMidTEasters.
Testing:TdoTCBCTandThemeTelect!
AlphaTthalassemia:T4TphenotypesT-TCorrectTAnswer--TSilentTcarrier:T(aa/
a-),TnormallyTasymptomatic.
-TTrait:T(a-/
a-)TorT(aa/--),TmildTanemia,TnoTchangesTonTHbTelect,ToftenTconfusedTwithTironTdeficie
ntTanemia.TCisTisTmoreTclinicallyTsignificant,TasTpotentialTtoThaveTbabyTwithTHydropsTf
etalisT(--/--)TifTpartnerTalsoTisTcarrierTinTcis.
-
THbHTdisease:T(a-/--)TorT(aCSa/--),Tanemia,Tsplenomegaly,Tjaundice,TsomeTrequireTtra
nsfusions.TConstantTSpringTphenotype:TmoreTsevereTthanTHbH,TmoreTtransfusionsTne
eded.
-THbBartsTdisease/
HydropsTfetalis:T(--/--),TincompatibleTwithTlifeT(unlessTinTuteroTtransfusionsTwithTBMT),T
usuallyTstillbornTofTneonatalTdeath.
BetaTThalassemiaT-TCorrectTAnswer-
AR,THBBTgeneT(chromT11)TencodesTbetaTglobinTsubunit.
95%TcarriersThaveTpointTmutations.TCanTbeTamelioratedTbyTcoinheritanceTofThereditar
yTpersistenceTofTfetalThemoglobinT(gammaTglobin).
CBCTmoreTaccurateTthanTgeneticTtesting.THbTelectTwillTshowTlowTorTnoTHbA.
BetaTThal:TQuantitativeTDefectTphenotypesT-TCorrectTAnswer--TBetaTthalTminorT(trait/
carrier):Thet,TusuallyTasymptomatic,TmildTanemia,TincreasedTHbFTandTHbA2T(canTbeT
maskedTbyTironTdeficientTanemia,TwhichTwillTlowerTHbA2).TAlsoTcheckTforTHBA1/2Tdu
plications!
-TBetaTthalTintermedia:ThomozygousTforTmilderTcomboTofTvariants,Tmild-
modTanemia,Thepatosplenomegaly,Tosteoporosis,TinfusionsTNOTTneeded.
-TBetaTthalTmajor/Cooley'sTanemia):ThomozygousTforTsevereTvariantsT-
>TnoTbetaTchainsTproduced,TsevereTheolyticTanemiaTbyT1yoT-
>TexpansionTofTboneTmarrowT-
>TskeletalTdeformities,Tjaundice,Thepatosplenomegaly,Themochromatosis,Tgallstones,T
delayedTgrowth,ThighTmortalityTw/oTtransfusions,TBMT/
cordTbloodTtransplantTareTcurative.
SickleTCellTDiseaseT(SCD)T-TCorrectTAnswer-AR,THbSTvariantTinTHBBT(p.Glu6Val)
-
TSickleTcellTtrait:ToneTHbSTallele.T1/12TAfricanTAmericansTareTSickleTcellTtrait.TUsually
Tasymptomatic,TriskTofTcomplicationsTatTaltitude,TextremeTexertion,Tdehydration:TPE,Tr
habdo,TsuddenTdeath.
-
TSickleTCellTDiseaseT(SCD):TAR,ThomoTforTHbSTalleleTorTcompoundTHbST+TotherTHB
BTalleleT(egTHbE,THbC),TsevereTanemia,TintermittentTvaso-occlusiveTeventsT-
>TPAIN,TswellingTofThands/feet,TorganTdamage,TreducedTlifeTexpectancy.
