Transfusion dependent beta thalassemia

major(TDTM):
Thepreventionofthisgeneticdisorderisthefirstandhasbecomeamodelforimplantationofprenatal
diagnosisforotherdiseases.Thatisthereasonforcoveringitinmoredetails.Itisthemostprevalent
20

genetic disease in the country as well as in the world. Before the activation of a taskforce for
preventionofthedisease,atleast1000newthepatientsusedtobeborneachyear.

21,22

Financialburden

23

ofdiseaseonthehealthsystemandhumanitarianaspectwerecatastrophic. TMwasthefirstdisease
18,19

thatwas acceptedforlegallyinducedabortionin2005.
ThepreventionofTMstartedintheearly
eighteenth century. In the beginning, the main strategies were: increasing professional and public
awareness,providinglaboratoryequipmentandskilledtechnicians,prenatalscreeningofcouples,genetic
counselingofatriskcouples,aswellaspreventionofunwantedpregnancyofalreadymarriedgene
carriers(minorcouples).

20,21

ThecarrierrateintheMazandaranseaborderandsouthofIranisabout11%
22

ofthepopulationandinthewholecountryisabout4%. About50%ofatriskcouplesdecidetomarry,
22,24

wherethereispotentially1inevery40couplesatriskofhavingTMchild.
Unwantedpregnancyrate
isreportedasupto60%inthecountry.Also,thereareresearches(unpublished)thatillegalabortions
weremoreprevalentinfamilieswhohadanaffectedTMchildcomparingwith matchedunaffected
families.Asaresult,itisindicatedthatlegalabortionofaffectedfetuseswasamustforthesuccess
ofpreventionprograms.Theprogramwassuccessful,asnewcasesdroppedtoathirdofbefore
23

preventionprogramhasstarted. InsomeprovincessuchasMazandaranwiththepatient/population
of1/1000whichisthehighestrateofIrannewcasesofTMinthewholeprovincebecamefewer
ChorionicVillusSampling(CVS)isthepreferredmethodformeasuring,becauseityieldsresultsat
24,25

anearliertimethanamniosynthesis.
Inordertodecreaseemotionalstressofcouplesandfamily
and no contraindication by laws, the best method for diagnosis of affected zygotes is Pre
implantation Genetic Diagnosis Preimplantation Genetic Diagnosis (PGD), which is recently
26

availableinIran. Sofar,thistechniqueisbeingusedforhavingachild,aschoiceofapreferred
gender is an option. Illegal abortion is not popular in order to have preferred gender. Periodic
27

assessmentoftheprotocols isbeingdonebyresearchers, as wellastheacceptanceofatrisk

populationandphysicians.

28,29

Thereareatleast24mutationsthatcanbediagnosedinthecountry.
30,31

ThemostprevalentmutationisIVSIIIwiththeprevalenceof5080percentindifferentareas.
TherearetwoPNDcentersundertheMinistryofHealthinTehranandMazandaranprovincesplus
manyprivatecenters.Thereisageneticnetworkwhichcontainsuptodateinformationofthefield.
Cost is covered by medical insurances since 2008. Therefore, there now seems to be a wider
32

acceptanceinthepublicforPNDservices. Oneofthemostpuzzlingdifferentialdiagnosisofbeing
minor thalassemia (beta gene mutation carrier) is alpha globin gene deletions/mutation. The
definitivediagnosis ofalphaglobingenedeletion/mutationispossibleandneonatalscreeningis
recommendedbysomecolleagues.

33