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Analize Genetice

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ANALIZE GENETICE – TROMBOFILIA EREDITARA

Cum definim trombofilia

De fiecare data cand un vas sangvin este lezat, sangeram pentru scurt timp deoarece se formeaza un cheag (tromb) care aderă de vas si opreste hemoragia. Trombul este rezultatul unui proces complex de coagulare, in care sunt implicate anumite celule, proteine si enzime.
Trombofilia este o anomalie a coagularii ce creste riscul de tromboza – formarea de trombi (cheaguri) in vasele sangvine. Frecvent, trombii se formează la nivelul venelor membrelor inferioare si determina tumefiere, roseata si discomfort la acel nivel. Astfel apare tromboza venoasa profunda ce poate fi diagnosticata la ecografie si tratata cu anti-coagulante. Trombofilia apare la 1 din 5 oameni. Un simplu test genetic iti poate arata daca te numeri printre ei.
Conditii care favorizeaza coagularea pot fi: sarcina, contraceptivele orale, fumatul, terapia estrogenica, varsta inaintata, hiperhomocisteinemia, malignitatile, accident vascular cerebral cu pareza extremitatilor, traumatismele, obezitatea, alimentatia neechilibrata, interventiile chirurgicale majore, diabetul zaharat, lupusul anticoagulant, imobilizarea prelungita, sedentarismul.

Care sunt tipurile de trombofilie

Trombofilia poate fi ereditara (atunci cand gena respectiva este mostenita) sau dobandita (apare mai tarziu in viata, dupa interventii chirurgicale, traume ale membrelor, cancer). Cele mai frecvente tipuri de trombofilii ereditare sunt mutatii ale factorului V Leiden si ale protrombinei (factorul II). Alte forme mai rare sunt: deficitul de antitrombina, proteina C si S si mutatia MTHFR (mutatie la nivelul genei cu rol in metabolismul acidului folic).

Cum putem descoperi trombofilia

Diagnosticarea precoce in cazul trombofiliei se poate face printr-un test genetic, iar diagnosticul trombofiliei ereditare se face prin testarea ADN-ului pentru anumite mutatii ce pot cauza:
– tromboze venoase, paralizie (prin accident vascular cerebral) la vârstă relativ tânără, infarct miocardic;
– infertilitate, eşec fertilizare in vitro
– avorturi spontane;
– hipotrofie fetală;
– deces fetal în timpul travaliului;
– anomalii congenitale multiple la nou-născut;
– gravide cu preeclampsie severă, abrupţia placentei, retard al creşterii intrauterine, mortinatalitate (raportul dintre numărul copiilor născuți morți și nașterile normale).

Indicatii pentru analize

– Factorul V (Mutatia Leiden);
– Protrombina (PTH; Factor II) G20210A;
– PAI-1 (Inhibitorul Activatorului Plasminogenului tisular tip 1) 4G/5G;
– MTHFR C677T (Metilentetrahidrofolat reductaza);
– MTHFR A1298C (Metilentetrahidrofolat reductaza);
– MTRR A66G (Metionin sintaza reductaza);
– MTR A2756G (Metionin sintaza).

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