TALASEMIJE PRI OTROCIH V SLOVENIJI V LETIH OD 2001 DO 2011
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1 TALASEMIJE PRI OTROCIH V SLOVENIJI V LETIH OD 2001 DO 2011 Aleksandra Zorko Brodnik, dr.med., UKC Maribor prim. Majda Benedik Dolničar, dr. med., UKC Ljubljana Olimje,
2 MOTNJE V SINTEZI HEMOGLOBINA skupina AR dednih bolezni TALASEMIJE kvantitativne motnje zmanjšanje ali odsotnost sinteze ene globinske verige v tetrameru Hb HEMOGLOBINOPATIJE kvalitativne motne spremembe zaporedja aminokislin v globinski verigi vzrok: mutacija genov, ki nadzirajo sintezo Hb
3 EPIDEMIOLOGIJA ime izhaja iz grškega termina: thalassa morje in haema kri talasemija se pojavlja v endemskih območjih malarije heterozigoti za talasemijo - so zaščiteni pred težko obliko malarije sodijo med najpogostejše genetske motnje Po podatkih WHO: 5% populacije nosilcev genov za talasemijo ali Hbpatijo.
4 PATOFIZIOLOGIJA glavni prenašalni protein za O 2 je HbA (α2,β2), poleg še HbF (α2,γ2) in HbA2 (α2,δ2) geni za α verige so kodirani na kr. 16 (4 aleli), geni za β ali ne-α verige so na kr. 11 (2 alela) Kvantitativne motnje v nastanku Hb - posledica neravnovesja v nastajanju α ali β globinskih verig v tetrameru Hb. Vzrok: mutacije genov, ki nadzirajo sintezo Hb. Poznanih >200 mutacij značilno: zmanjšanje ali odsotnost nastanka globinskih verig, ki so sicer strukturno normalne.
5 BETA TALASEMIJE zmanjšana ali odsotna sinteza β globinske verige 3 klinične oblike: - prenašalec (minor oblika) - intermediarna oblika - talasemija major Klinične težave se stopnjujejo od stanja brez težav z le tipičnimi spremembami v hemogramu pri prenašalstvu do odvisnosti od transfuzij pri β major obliki.
6 TALASEMIJA ΒETA MINOR heterozigoti asimptomatska laboratorijski izvidi: mikrocitna hipokromna anemija lahke stopnje (DD: sideropenična anemija), št. Eri, RDW N, lahko Rtc v razmazu periferne krvi lahko tarčne celice UZ lahko malo povečana vranica, tipna v <20% elektroforeza Hb (>90% HbA, HbA2>3,5-7%, HbF pri cca.50% pacientov) v nosečnosti lahko nastopi poglobljena fiziološka anemija, lahko tudi potreba po transfuziji? protektiven učinek pred trombemboličnimi dogodki pri moških
7 ALFA TALASEMIJE zmanjšana ali odsotna sinteza alfa globinske verige poznane 4 klinične oblike: - tiho prenašalstvo (brez slabokrvnosti, normalni Eri) - prenašalstvo z anemijo lahke stopnje ter hipokromnimi in mikrocitnimi Eri - hemoglobin H (β4) - smrt v maternici (hidrops fetalis)
8 HEMOGLOBINOPATIJA LEPORE hemoglobin Lepore je sestavljen iz dveh α in ene β in ene δ/β hibridne globinske verige pri heterozigotni mutaciji so prisotni klinični znaki beta talasemije minor, ker nastaja manj β globinske verige
9 PREVALENCA V REPUBLIKAH BIVŠE SFRJ v endemsko območje talasemij mediteranskega tipa sodijo republike bivše Jugoslavije, razen Slovenije povprečna incidenca β talasemij je 1,2% najvišja: Makedonija - 2,9%, najnižja: Hrvaška - 0,8% z molekularno analizo DNA so ugotavili 18 različnih β talasemičnih mutacij, v >70% prisotni 3 najpogostejši tipi mutacij Efremov s sod. Hemoglobinopathies in Yugoslavia: an update. Hemoglobin, 1992; 16(6):
10 POJAVNOST TALASEMIJ IN HB-PATIJ V SLOVENIJI preučili smo dokumentacijo otrok, ki jim je bila v letih postavljena diagnoza talasemije oz. hemoglobinopatije Rezultati : otrok s težko obliko talasemije nismo odkrili talasemija beta lahke stopnje (minor): 102 otroka (74 v Ljubljani, 26 v Mariboru, 2 v Celju) talasemije alfa prenašalstvo: 1 otrok hemoglobinopatija Lepore: 21 otrok (19 v Ljubljani in 2 v Mariboru)
11 NOVOODKRITE TALASEMIJE BETA MINOR IN HB-PATIJE LEPORE V LJUBLJANI talasemije Lepore podatki proteinskega laboratorija UKC Ljubljana
12 LAB. ZNAČILNOSTI TALASEMIJ IN HB-PATIJ V SLOVENIJI povprečni Hb 110,3 g/l ref. vred.: > 115 g/l povprečno št. Eri 5,67x10 12 /l ref. vred.: 4,5-6,3x10 12 /l povprečni MCV 60,5 fl ref. vred.: > 70,0 fl povprečni MCH pg ref. vred.: pg značilna za starost > 2leti Mentzerjev indeks (= MCV/Eri; za talasemijo značilen <11,5) je bil pozitiven pri 69/102 (67,6%) otrocih Ugotavljali smo: normalno ali zmerno zvišano vrednost Rtc normalni status Fe ++ oz. vztrajanje hipokromije in mikrocitoze, če je bil otrok zdravljen s preparati Fe ++ diagnozo smo potrdili z elektroforetsko analizo Hb (Hb A 2 >3,5, Hb F>0,5)
13 TALASEMIJA BETA MINOR RAZVRSTITEV GLEDE NA IZVID ELEKTROFOREZE HB : 102 otroka: 74 otrok iz Ljubljane, 26 otrok iz Maribora in 2 otroka iz Celja 1. skupina HbA 2 (3,5-5,8%) in N/ zmerno HbF (<1-5%) 47 (46%) otrok 2. skupina N HbA 2 (<3,5%) in HbF (5-15%) 35 (34%) otrok 3. skupina Hb A 2 (3,5-20%) in HbF (5-20%) 11 (11%) otrok 4. skupina HbA 2 in HbF N, le mikrocitoza, hipokromija, št. Eri 9 (9%) otrok
14 HEMOGLOBINOPATIJE HbS - prisoten v 40% pri bratu in sestri očeta Afričana in matere Slovenke HbC (napaka v nastajanju globinske verige beta) prisoten pri novorojenčku (odkrit ob presejanju v banki za shranjevanje popkovnične krvi)
15 GENETSKO SVETOVANJE talasemije se v glavnem pojavljajo kot asimptomatske oz. lažje oblike slabokrvnosti talasemije minor naravna selekcija izloči težje oblike (talasemija α major ni združljiva z življenjem) WHO - priporočila za primarno preventivni program: -odkrivanje heterozigotnih nosilcev -genetsko svetovanje rizičnim parom -možnost prenatalne diagnostike
16 GENETSKO SVETOVANJE Mediteranske države so na ta način že uspešno znižale incidenco beta talasemije major na skoraj nič. V času večjih preseljevanj - problem v severni Evropi v tako imenovanih ne-endemskih deželah - velike multietnične imigracijske skupnosti, poroke med bližnjimi sorodniki.
17 ZAKLJUČEK Slovenija NE sodi med endemska območja za talasemijo. Ugotavljamo primere asimptomatske talasemije beta minor, navadno pri otrocih priseljenih staršev. Pomembno je, da te prepoznamo, da jih po nepotrebnem ne zdravimo s preparati železa. Pri parih, kjer sta oba heterozigota za talasemijo beta, je potrebno genetsko svetovanje.
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