Ukusilela kwe-antithrombin III yokuzalwa

Ukusilela kwe-antithrombin III ye-Congenital sisifo semfuza esibangela ukuba igazi lijiye ngaphezulu kwesiqhelo.

I-Antithrombin III yiprotein esegazini ethintela amahlwili egazi angaqhelekanga ekwakhiweni. Inceda umzimba ugcine ulungelelwano olusempilweni phakathi kokopha kunye nokujiya. Ukusilela kwe-antithrombin III yokuzalwa sisifo esizuzwe njengelifa. Kwenzeka xa umntu efumana ikopi enye engaqhelekanga ye-antithrombin III gene evela kumzali onesifo.

Uhlobo olungaqhelekanga lukhokelela kwinqanaba eliphantsi leprotheni ye-antithrombin III. Eli nqanaba liphantsi le-antithrombin III linokubangela amahlwili egazi angaqhelekanga (i-thrombi) enokuthintela ukuhamba kwegazi kunye nokonakalisa amalungu.

Abantu abanale meko bahlala benesithambiso segazi besebancinci. Banokubanamalungu osapho abanengxaki yokunqanda igazi.

Ngokuqhelekileyo abantu baya kuba neempawu zegazi. Ukugqabhuka kwegazi ezingalweni okanye emilenzeni kuhlala kubangela ukudumba, ukuba bomvu kunye nentlungu. Xa iqhekeza legazi lisuka apho lenze khona laza laya kwelinye ilungu lomzimba, libizwa ngokuba yitromboembolism. Iimpawu zixhomekeka kwindawo apho igazi elihamba gazi lihamba liye khona. Indawo eqhelekileyo ngumphunga, apho ihlwili linokubangela ukukhohlela, ukuphefumla kancinci, iintlungu ngelixa uphefumla nzulu, iintlungu esifubeni kwanokufa. Ukugqabhuka kwegazi okuya kwingqondo kunokubangela ukubetha.

Uvavanyo lomzimba lunokubonisa:

• Umlenze odumbileyo okanye ingalo
• Ukuncipha komoya kuvakala emiphungeni
• Inqanaba lentliziyo elikhawulezayo

Umboneleli wezempilo unokuyalela kuvavanyo lwegazi ukujonga ukuba unenqanaba eliphantsi le-antithrombin III.

Ihlwili legazi liphathwa ngamayeza okucoca igazi (abizwa ngokuba ziianticoagulants). Kufuneka uthathe la mayeza ixesha elingakanani kuxhomekeke ekubeni lalinzima kangakanani iqweqwe legazi kunye nezinye izinto. Xoxa oku nomboneleli wakho.

Ezi zibonelelo zinokubonelela ngolwazi oluthe kratya malunga nokuzalwa kwe-antithrombin III yokuswela:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/antithrombin-deficiency
• Isalathiso seKhaya le-NLM yemfuzo - ghr.nlm.nih.gov/condition/redited-antithrombin-deficiency

Uninzi lwabantu luneziphumo ezilungileyo ukuba bahlala kumayeza anticoagulant.

Ukuqina kwegazi kunokubangela ukufa. Ukugqabhuka kwegazi emiphungeni kuyingozi kakhulu.

Jonga umboneleli wakho ukuba uneempawu zale meko.

Nje ukuba umntu afunyaniswe enesifo se-antithrombin III, onke amalungu osapho asondeleyo kufuneka ahlolwe esi sifo. Amachiza okucheba igazi anokuthintela amahlwili egazi ekubeni ayile kwaye athintele iingxaki ekunqandeni.

Intswelo - antithrombin III - lokuzalwa; Ukunqongophala kweAntithrombin III - kukuzalwa

• Igazi elinemithambo yegazi

UAnderson JA, uHogg KE, uWeitz JI. Amazwe angenakuchaphazeleka. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, ii-eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; I-2018: isahluko 140.

I-Schafer AI. Ukuphazamiseka kwethrombotic: amazwe angenakunyanzeliswa. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Umhla wama-25. IPhiladelphia, PA: Elsevier Saunders; I-2016: isahluko 176.