Ingaba igazi lakho lisemngciphekweni wokuqhekeka kwegazi? (Prothrombin Gene Mutation) Masifunde ngayo ngokulula

Ngaba wakha weva ngomntu odumbileyo, obuhlungu ngequbuliso aze axelelwe ngugqirha ukuba unegazi elijiyileyo emilenzeni yakhe? Okanye umntu oselula, osempilweni ngequbuliso onengxaki yokuphefumla kunye neentlungu esifubeni aze alaliswe esibhedlele? Xa sisiva izinto ezinje, sinokuzibuza ukuba kwenzeka ntoni. Uninzi lwexesha, sibona izinto ezinje ngokwaluphala kunye nokutyeba kakhulu njengembangela yoku. Nangona kunjalo, ngamanye amaxesha unobangela unokuba yinto efana nombala wamehlo ethu, ubume beenwele zethu, okanye i-gene esiyizuze kubazali bethu. Namhlanje siza kuthetha ngemeko enjalo yemfuza eyonyusa umngcipheko wegazi elijiyileyo. Oku kubizwa ngokuba yiProthrombin Gene Mutation .

Ngamafutshane, yintoni le Prothrombin Gene Mutation?

Oku kunokuvakala njengegama lesayensi, kodwa ibali lilula kakhulu. Masiqale sijonge indlela ukujiya kwegazi okwenzeka ngayo emzimbeni wethu. Xa ufumana ukwenzakala okuncinci, igazi elincinci liphuma lize lime emva kwexesha elithile, akunjalo? Kungenxa yokuba inkqubo yokujiya kwegazi emzimbeni wethu iyasebenza. Iintlobo ezininzi zeeproteni ziyanceda koku. Ezi protein sizibiza ngokuba ziiClotting Factors. IProthrombin yenye yeeproteni ezinjalo. Elinye igama lale nto yiFactor II . Ngokwesiqhelo, umzimba wethu wenza kuphela ubungakanani beProthrombin obufunekayo. Nangona kunjalo, emzimbeni womntu onotshintsho lwemfuza olubizwa ngokuba yiProthrombin Gene Mutation, le protein ebizwa ngokuba yiProthrombin iveliswa ngobuninzi obukhulu kunokuba kufuneka . Khawucinge, kuya kwenzeka ntoni ukuba umntu wongeza iipuni ezintlanu okanye ezintandathu zeswekile kwikomityi yeti endaweni yeepuni ezimbini zeswekile? Njengokuba iti inambitheka kamnandi kakhulu, xa amanqanaba eprothrombin enyuka, igazi lethu liba "linamathelayo," okanye lithambekele ekujiyeni. Oku kwandisa umngcipheko wokwakheka kwamahlwili egazi emithanjeni, nokuba akukho ngozi. La mahlwili egazi akheka kwimithambo enzulu yemilenze. Le meko siyibiza ngokuba yiDeep Vein Thrombosis (DVT) . Ngamanye amaxesha, iqhekeza lale hlwili legazi linokwaphuka lize livale umthambo emiphungeni. Le yimeko eyingozi kakhulu, ebizwa ngokuba yiPulmonary Embolism (PE) .

Siyifumana njani le gene? Zithini i-homozygous kunye ne-heterozygous?

Kulula kakhulu ukuyiqonda le nto. Sifumana nayiphi na ijini njengekopi enye evela kumama wethu kunye nekopi enye evela kutata wethu. Cinga ngale jini eyenza iProthrombin. 1. I-Heterozygous: Ufumana le jini inesiphene kumama okanye kutata wakho, oko kukuthi, komnye wabazali bakho kuphela. Omnye umntu ufumana ijini esempilweni neqhelekileyo. Abantu abaninzi eSri Lanka nakwihlabathi liphela banale meko. Kwimeko enjalo, umngcipheko wokuqhekeka kwegazi uphezulu kancinci kunomntu oqhelekileyo. Xa sithetha nje, abantu ababini okanye abathathu kwi-1,000 abanale meko banomngcipheko wokufumana ihlwili legazi. 2.I-Homozygous: Oku kunqabile kancinci. Okwenzekayo apha kukuba ufumana i-gene enesiphene kumama wakho nakutata wakho. Oku kuthetha ukuba ufumana zombini iikopi ze-gene enesiphene kubazali bobabini . Kwimeko enjalo, umngcipheko wokuqhekeka kwegazi uphezulu ngokuphindwe kaninzi kunabo bane-'Heterozygous'.

Ngaba abantwana bam baza kulizuza ilifa eli kum?

Le yingxaki ebanayo abazali abaninzi.

• Ukuba une -homozygous condition (oko kuthetha ukuba zombini iikopi ze-gene zinesiphako), ngokuqinisekileyo uza kudlulisela i-gene enye enesiphako kumntwana ngamnye wakho .
• Ukuba ungumntu one-heterozygous (oko kuthetha ukuba une-gene enye enesiphako), kukho ithuba elingama-50% lokuba omnye wabantwana bakho uza kuzuza elo gene. Kufana nokuphosa ingqekembe; usenokuyifumana okanye ungayifumani.

Zithini iimpawu zale meko?

Nantsi eyona nto ibalulekileyo. Akukho zimpawu zichaphazela utshintsho lwezakhi zofuzo ezibizwa ngokuba yiProthrombin Gene Mutation. Oko kukuthi, nokuba unalo jini emzimbeni wakho, awuyi kuva mahluko okanye ubunzima. Abantu abaninzi abazi nokuba banalo olu jini, kwaye baphila ubomi babo bonke ngaphandle kokwakheka kwamahlwili egazi. Ngoko ke ingxaki iphi? Ingxaki iza kuphela xa kuvela amahlwili egazi ngenxa yalo jini. Emva koko sibona iimpawu ezinxulumene naloo mahlwili egazi.

Ngaphandle kwezakhi zofuzo, ngaba zikhona ezinye izinto ezibangela umngcipheko wokuqhekeka kwegazi?

Ewe, ngokuqinisekileyo. Sithe ayinguye wonke umntu onale gene oya kuba namahlwili egazi. Nangona kunjalo, xa kukho enye okanye ezingaphezulu kwezi zinto zilandelayo, umngcipheko unokwanda nangakumbi. Kufana nokugalela ipetroli emlilweni.

• Ukutshaya: Ukutshaya konakalisa imithambo yegazi kwaye kwandisa umngcipheko wokuqhekeka kwegazi .
• Utyando: Emva kotyando olukhulu, ungalala ebhedini iintsuku ezininzi, nto leyo enokubangela ukuncipha kokuhamba kwegazi kunye nokuqhekeka kwamalungu omzimba.
• Ukutyeba kakhulu : Njengoko ubunzima bomzimba busanda, le ngozi iyanda njengoko uxinzelelo olungakumbi lubekwa kwimithambo yegazi.
• Ukukhulelwa: Ngexesha lokukhulelwa, umngcipheko wokuqhekeka kwegazi uyanda ngokwemvelo ngenxa yotshintsho lwehomoni emzimbeni kunye noxinzelelo kwimithambo yegazi olubangelwa ngumntwana okhulayo.
• Ukusela iipilisi zokulawula ukuzala okanye unyango lweehomoni: Umngcipheko unokwandiswa yihomoni ye-estrogen efumaneka kwezinye iipilisi zokulawula ukuzala kunye nonyango lweehomoni.
• Ukwaluphala: Umngcipheko wokuqhekeka kwegazi uyanda ngokwendalo njengoko ukhula.
• Ukuhlala kwindawo efanayo ixesha elide kakhulu:
• Ukulala esibhedlele iintsuku ezininzi.
• Ukunxiba isamente xa waphuke umlenze.
• Ukuhamba ngenqwelo-moya, ibhasi, okanye imoto iiyure ezininzi ngexesha.

Ndingafumanisa njani ukuba ndinale meko?

Oku akunakufunyanwa ngovavanyo lwegazi oluqhelekileyo (njengokubalwa kwegazi elipheleleyo). Kufuneka uvavanyo oluthile lwemfuza ukuze oku kwenzeke. Oku kwenziwa ngokuthatha isampuli yegazi. Nangona kunjalo, ugqirha akaxeleli wonke umntu ukuba enze olu vavanyo. Ngokwesiqhelo, ugqirha uyayikrokrela le nto aze ayiyalele uvavanyo kwezi meko zilandelayo:

• Ukuba ukhe waba namahlwili egazi angaphezu kwelinye ngaphambili.
• Ukuba uphuma igazi elijiyileyo uselula, usempilweni, kwaye ungenazo ezinye izifo.
• Ukuba isalamane esisondeleyo kusapho lwakho (umama, utata, abantakwenu) sinengxaki yokujiya kwegazi ngolu hlobo.

Iphathwa njani?

Apha kufuneka senze iingongoma ezimbini ezicacileyo. 1. Unyango lokuguqulwa kwezakhi zofuzo: Ngokwesayensi yezonyango yangoku, akukho ndlela yokunyanga okanye yokutshintsha izakhi zofuzo zethu. Oku kuthetha ukuba iProthrombin Gene Mutation iya kuba nawe ubomi bakho bonke. 2. Unyango lokuguqulwa kwezakhi zofuzo: Nangona kunjalo, singalawula umngcipheko wokuguqulwa kwezakhi zofuzo okubangelwa yile gene size sinyange i-blood clot eye yavela. Ukuba une-DVT okanye i-PE, ugqirha wakho uya kuqala unyango ngokukunika uhlobo lwamayeza oluthintela ukuqhekeka kwegazi (oko sidla ngokuba zii-blood thinners). Ngokwezonyango, ezi zibizwa ngokuba zii-anticoagulants . Kwezinye iimeko ezingxamisekileyo, amayeza abizwa ngokuba yi-thrombolytics anikwa ngenaliti ukuze anyibilikise kwaye asuse i-blood clot. Amaxesha amaninzi, i-catheter okanye utyando lunokusetyenziswa ukususa i-blood clot. Ubude bonyango buyahluka kumntu nomntu. Kwabanye abantu, ukuthatha amayeza malunga neenyanga ezintathu kwanele. Abanye banokufuna ukuthatha amayeza okunciphisa igazi ubomi babo bonke. Ugqirha wakho uya kwenza eso sigqibo ngokusekelwe kwimeko yakho kunye nezinto ezikubangela umngcipheko.

Le meko ikuchaphazela njani ukukhulelwa?

Le yingxaki ebalulekileyo kubafazi abaninzi.

• Ukuba une-Prothrombin Gene Mutation kwaye ukhe waba ne-blood clot ngaphambili , ugqirha wakho unokucebisa ukuba uthathe i-blood thinner yemihla ngemihla (efana ne-heparin) ngexesha lokukhulelwa kwakho nakwiiveki ezimbalwa emva kokuba umntwana wakho ezelwe. Olu hlobo lwe-injection alunabungozi kumntwana wakho.
• Nangona kunjalo, nokuba unale gene, ukuba awukaze ube negazi elijiyileyo ebomini bakho , awudingi naluphi na unyango ngexesha lokukhulelwa.

Ufanele uye nini kugqirha?

Oku kubaluleke kakhulu. Ukuqonda iimpawu nokuthatha amanyathelo kwangethuba kunokuthintela iimeko ezinzulu. Okokugqibela, musa ukoyika ukuba ufumanisa ukuba uneProthrombin Gene Mutation. Khumbula, uninzi lwabantu abanale gene banokuphila ubomi obusempilweni ngaphandle kweengxaki. Eyona nto ibalulekileyo kukwazi oku, uhlale kude nezinto ezinobungozi (ezifana nokutshaya, ukutyeba kakhulu), phila ubomi obusempilweni, kwaye ufune iingcebiso zonyango ngokukhawuleza ukuba ufumanisa naziphi na iimpawu zokuqhekeka kwegazi. Uguquko lweProthrombin Gene, uguquko lweFactor II, ukugabha kwegazi, iDeep Vein Thrombosis, iPulmonary Embolism, iDVT, iPE, Izifo zeGene, Izinto ezithiba igazi, iiAnticoagulants