Ingabe igazi lakho lisengozini yokujiya? (Ukuguqulwa Kwezakhi Zofuzo ze-Prothrombin) Ake sifunde ngakho kalula

Wake wezwa ngomuntu ovele evuvukele, ebuhlungu umlenze bese etshelwa udokotela ukuthi unegazi eligobile emlenzeni wakhe? Noma umuntu osemusha, ophilile, ovele abe nobunzima bokuphefumula nobuhlungu esifubeni bese elaliswa esibhedlela? Uma sizwa izinto ezinjengalezi, singase sizibuze ukuthi kwenzekani. Esikhathini esiningi, sibona izinto ezinjengokuguga nokukhuluphala njengembangela yalokhu. Kodwa-ke, ngezinye izikhathi imbangela ingaba yinto efana nombala wamehlo ethu, ukuthungwa kwezinwele zethu, noma i-gene esiyizuza kubazali bethu. Namuhla sizokhuluma ngesimo esinjalo sezakhi zofuzo esanda ingozi yama-blood clots. Lokhu kubizwa ngokuthi i-Prothrombin Gene Mutation .

Kalula nje, kuyini lokhu kuguqulwa kwezakhi zofuzo ze-Prothrombin?

Lokhu kungase kuzwakale njengegama lesayensi, kodwa indaba ilula kakhulu. Ake siqale sibheke ukuthi ukujiya kwegazi kuvame kanjani emzimbeni wethu. Uma uthola ukulimala okuncane, igazi elincane liyageleza bese liyayeka ngemva kwesikhashana, akunjalo? Lokho kungenxa yokuthi uhlelo lokujiya kwegazi emzimbeni wethu luyasebenza. Izinhlobo eziningi zamaprotheni ziyasiza kulokhu. Sibiza la maprotheni ngokuthi Izinto Ezijiyayo. I-Prothrombin ingenye yamaprotheni anjalo. Elinye igama lalokhu yi -Factor II . Ngokuvamile, umzimba wethu wenza kuphela inani le-Prothrombin elidingayo. Kodwa-ke, emzimbeni womuntu onoguquko lwezakhi zofuzo olubizwa ngokuthi i-Prothrombin Gene Mutation, le phrotheni ebizwa ngokuthi i-Prothrombin ikhiqizwa ngenani elikhulu kakhulu kunalokho okudingekayo . Cabanga, bekuzokwenzekani uma othile engeza izipuni ezinhlanu noma eziyisithupha zikashukela enkomishini yetiye esikhundleni sezipuni ezimbili zikashukela? Njengoba nje itiye linambitheka kamnandi kakhulu, lapho amazinga e-prothrombin ekhuphuka, igazi lethu liba "linamathelayo" kancane, noma lithambekele kakhulu ekujiyeni. Lokhu kwandisa ingozi yokwakheka kwamaqhubu egazi emithanjeni, ngisho nangaphandle kokulimala. La maqhubu egazi akheka emithanjeni ejulile yemilenze. Lesi simo sisibiza ngokuthi i-Deep Vein Thrombosis (DVT) . Ngezinye izikhathi, ingxenye yaleli qhubu legazi ingaphuka futhi ivimbe umthambo emaphashini. Lesi yisimo esiyingozi kakhulu, esibizwa ngokuthi i-Pulmonary Embolism (PE) .

Siyithola kanjani le gene? Yini i-homozygous kanye ne-heterozygous?

Lokhu kulula kakhulu ukukuqonda. Sithola noma yisiphi isakhi sofuzo njengekhophi eyodwa evela kumama wethu kanye nekhophi eyodwa evela kubaba wethu. Cabanga ngalesi sakhi sofuzo esenza i-Prothrombin. 1. I-Heterozygous: Uthola lesi sakhi sofuzo esinamaphutha kumama wakho noma kuyihlo, okungukuthi, komunye wabazali bakho kuphela. Omunye umuntu uthola isakhi sofuzo esinempilo nesijwayelekile. Abantu abaningi eSri Lanka nasemhlabeni jikelele banalesi simo. Kulesi simo, ingozi yokuqhekeka kwegazi iphakeme kancane kunomuntu ojwayelekile. Cishe, abantu ababili noma abathathu kwabayi-1,000 abanalesi simo basengozini yokuthola ihlule legazi. 2.I-Homozygous: Lokhu kuyinto engavamile. Okwenzekayo lapha ukuthi uthola isakhi sofuzo esinamaphutha kumama wakho nakubaba wakho. Lokhu kusho ukuthi uthola womabili amakhophi esakhi sofuzo esinamaphutha kubazali bobabili . Kulesi simo, ingozi yokuqhekeka kwegazi iphakeme kaningana kunalabo abanesifo 'se-Heterozygous'.

Ingabe izingane zami zizozuza lokhu kimi?

Lena inkinga abazali abaningi abanayo.

• Uma unesimo se -homozygous (okusho ukuthi womabili amakhophi esakhi sofuzo anephutha), uzodlulisela isakhi sofuzo esisodwa esinephutha enganeni ngayinye yakho .
• Uma ungumuntu we-heterozygous (okusho ukuthi une-gene eyodwa enephutha), kunethuba elingu-50% lokuthi omunye wezingane zakho uzozuza leso gene njengefa. Kufana nokuphonsa uhlamvu lwemali; ungase uluthole noma ungalutholi.

Ziyini izimpawu zalesi simo?

Nansi into ebaluleke kakhulu. Azikho izimpawu eziqondene ngqo nokuguqulwa kwezakhi zofuzo okubizwa ngokuthi i-Prothrombin Gene Mutation. Okusho ukuthi, noma ngabe unalesi sakhi sofuzo emzimbeni wakho, ngeke uzwe mehluko noma ubunzima. Abantu abaningi abazi nokuthi banalesi sakhi sofuzo, futhi baphila impilo yabo yonke ngaphandle kokwakheka kwamahlule egazi. Pho inkinga ikuphi? Inkinga iza kuphela uma kwakheka amahlule egazi ngenxa yalesi sakhi sofuzo. Bese sibona izimpawu ezihlobene nalelo hlule legazi.

Ngaphandle kwezakhi zofuzo, ingabe zikhona ezinye izinto ezandisa ingozi yokuqhekeka kwegazi?

Yebo, impela. Sithe akuwona wonke umuntu onalesi sakhi sofuzo ozoba namahlule egazi. Kodwa-ke, uma kukhona esinye noma ngaphezulu sezici ezilandelayo, ingozi inganda kakhulu. Kufana nokuthela uphethiloli emlilweni.

• Ukubhema: Ukubhema konakalisa imithambo yegazi futhi kwandisa ingozi yokuqhekeka kwegazi .
• Ukuhlinzwa: Ngemva kokuhlinzwa okukhulu, ungase ulale embhedeni izinsuku eziningana, okungaholela ekunciphiseni ukugeleza kwegazi kanye nokuqhekeka kwegazi.
• Ukukhuluphala ngokweqile : Njengoba isisindo somzimba sikhula, le ngozi iyanda njengoba kufakwa ingcindezi eyengeziwe emithanjeni.
• Ukukhulelwa: Ngesikhathi sokukhulelwa, ingozi yokuqhekeka kwegazi iyanda ngokwemvelo ngenxa yezinguquko zamahomoni emzimbeni kanye nokucindezeleka emithanjeni okubangelwa ingane ekhulayo.
• Ukuthatha amaphilisi okuvimbela inzalo noma ukwelashwa ngama-hormone: Ingozi ingandiswa yi-hormone ye-estrogen equkethwe kwamanye amaphilisi okuvimbela inzalo kanye nokwelashwa ngama-hormone.
• Ukuguga: Ingozi yokuqhekeka kwegazi iyanda ngokwemvelo njengoba ukhula.
• Ukuhlala endaweni efanayo isikhathi eside kakhulu:
• Ukulala esibhedlela izinsuku eziningi.
• Ukugqoka i-cast uma uphuka umlenze.
• Ukuhamba ngendiza, ibhasi, noma imoto amahora amaningi ngesikhathi.

Ngingathola kanjani ukuthi nginalesi simo?

Lokhu akukwazi ukutholwa ngokuhlolwa kwegazi okuvamile (njengokubalwa kwegazi okugcwele). Kudingeka ukuhlolwa kofuzo oluthile kulokhu. Lokhu kwenziwa ngokuthatha isampula yegazi. Kodwa-ke, udokotela akatsheli wonke umuntu ukuthi enze lokhu kuhlolwa. Ngokuvamile, udokotela usola lokhu bese eyala ukuhlolwa ezimweni ezilandelayo:

• Uma uke waba namahlule egazi angaphezu kwelilodwa ngaphambili.
• Uma uba namahlwili egazi usemncane, uphilile, futhi ungenazo ezinye izifo.
• Uma isihlobo esiseduze emndenini wakho (umama, ubaba, izingane zakini) sinalolu hlobo lwenkinga yokujiya kwegazi.

Iphathwa kanjani?

Lapha sidinga ukuveza amaphuzu amabili acacile. 1. Ukwelashwa kokuguquka kwezakhi zofuzo: Ngokwesayensi yezokwelapha yamanje, ayikho indlela yokwelapha noma yokushintsha izakhi zofuzo zethu. Lokhu kusho ukuthi i-Prothrombin Gene Mutation izoba nawe impilo yakho yonke. 2. Ukwelashwa kwamahlule egazi: Kodwa-ke, singalawula ingozi yamahlule egazi abangelwa yilesi sakhi sofuzo futhi selaphe amahlule egazi asele . Uma une-DVT noma i-PE, udokotela wakho uvame ukuqala ukwelashwa ngokukunikeza uhlobo lomuthi ovimbela amahlule egazi (lokho esivame ukukubiza ngokuthi ama-blood thinners). Ngokwezokwelapha, lokhu kubizwa ngokuthi ama-anticoagulants . Kwezinye izimo eziphuthumayo, imithi ebizwa ngokuthi ama-thrombolytics inikezwa ngomjovo ukuze incibilikise futhi isuse amahlule egazi. Akuvamile kakhulu, i-catheter noma ukuhlinzwa kungasetshenziswa ukususa amahlule egazi. Isikhathi sokwelashwa siyahlukahluka kuye ngomuntu nomuntu. Kwabanye abantu, ukuthatha umuthi cishe izinyanga ezintathu kwanele. Abanye kungadingeka bathathe imithi yokunciphisa igazi impilo yabo yonke. Udokotela wakho uzothatha leso sinqumo ngokusekelwe esimweni sakho kanye nezici zakho eziyingozi.

Lesi simo sithinta kanjani ukukhulelwa?

Lolu udaba olubalulekile kwabesifazane abaningi.

• Uma unale Prothrombin Gene Mutation futhi uke waba ne-blood clot esikhathini esidlule , udokotela wakho angase akuncome ukuthi uthathe i-blood thinner yansuku zonke (njenge-heparin) enomthamo ophansi (ovimbelayo) phakathi nokukhulelwa kwakho kanye namasonto ambalwa ngemva kokuzalwa kwengane yakho. Lezi zinhlobo zemijovo azilimazi ingane yakho.
• Kodwa-ke, noma ngabe unalesi sakhi sofuzo, uma ungakaze ube nehlule legazi empilweni yakho , ngokuvamile awudingi ukwelashwa ngesikhathi sokukhulelwa.

Kufanele ubonane nini nodokotela?

Lokhu kubaluleke kakhulu. Ukuqaphela izimpawu nokuthatha isinyathelo kusenesikhathi kungavimbela izimo ezibucayi. Okokugcina, ungesabi uma uthola ukuthi une-Prothrombin Gene Mutation. Khumbula, iningi labantu abanalesi sakhi sofuzo lingaphila impilo enempilo ngaphandle kwezinkinga. Into ebaluleke kakhulu ukuqaphela lokhu, ugweme izinto eziyingozi (njengokubhema, ukukhuluphala ngokweqile), uphile impilo enempilo, futhi ufune iseluleko sezokwelapha ngokushesha uma uthola izimpawu zokuqhekeka kwegazi. Ukuguqulwa Kwezakhi Zofuzo ze-Prothrombin, Ukuguqulwa Kwesici II, Ukujiya Kwegazi, I-Deep Vein Thrombosis, I-Pulmonary Embolism, i-DVT, i-PE, Izifo Zofuzo, Izinto Ezinciphisa Igazi, Izinto Ezilwa Nokugabha Ama-coagulant