I-hemophilia A

I-Hemophilia A yisifo esopha ifa esidalwa ukuntuleka kwegazi lokunqanda igazi i-VIII. Ngaphandle kwesici VIII esanele, igazi alikwazi ukujiya kahle ukulawula ukopha.

Lapho wopha, uchungechunge lwezinto ezenzekayo emzimbeni olusiza ukwakheka kwamahlule egazi. Le nqubo ibizwa ngokuthi yi-coagulation cascade. Kubandakanya amaprotheni akhethekile abizwa ngokuthi ama-coagulation, noma ama-clotting, factor. Ungaba nethuba eliphakeme lokopha ngokweqile uma eyodwa noma eziningi zalezi zinto zilahlekile noma zingasebenzi ngendlela okufanele zenze ngayo.

I-Factor VIII (eyisishiyagalombili) ingesinye seziqu coagulation. I-hemophilia A ingumphumela womzimba ongenzi i-factor VIII eyanele.

I-Hemophilia A ibangelwa isici se-X esixhunywe ku-X esinefa, nesakhi esineziphene esiku-X chromosome. Abesifazane banamakhophi amabili we-X chromosome. Ngakho-ke uma isakhi se-factor VIII ku-chromosome eyodwa singasebenzi, isakhi esikolunye i-chromosome singenza umsebenzi wokwenza i-factor VIII eyanele.

Abesilisa bane-X chromosome eyodwa kuphela. Uma isakhi se-factor VIII silahlekile ku-X chromosome yomfana, uzoba ne-hemophilia A. Ngalesi sizathu, iningi labantu abane-hemophilia A ngabesilisa.

Uma owesifazane enesici se-VIII esinesici esonakele, uthathwa njengomthwali. Lokhu kusho ukuthi isakhi sofuzo esingalungile singadluliselwa ezinganeni zakhe. Abafana abazalwa ngabesifazane abanjalo banethuba elingama-50% lokuba ne-hemophilia A. Amadodakazi abo anethuba elingama-50% lokuba othwala. Zonke izingane zesilisa zamadoda ezine-hemophilia zithwala isakhi sofuzo esingalungile. Izici zobungozi be-hemophilia A zifaka:

• Umlando womndeni wokopha
• Ukuba owesilisa

Ubukhulu bezimpawu buyahlukahluka. Ukopha isikhathi eside kuyisifo esiyinhloko. Kuvame ukubonwa okokuqala lapho ingane isokwa. Ezinye izinkinga zokopha zivame ukuvela lapho usana luqala ukukhasa nokuhamba.

Amacala amancane angahle angabonakali kuze kube kamuva empilweni. Izimpawu zingaqala ukwenzeka ngemuva kokuhlinzwa noma ukulimala. Ukopha kwangaphakathi kungenzeka noma kuphi.

Izimpawu zingafaka:

• Ukopha ezinhlangothini ezinobuhlungu obuhambisanayo nokuvuvukala
• Igazi emchameni noma esitulweni
• Ukulimaza
• Umgudu wamathumbu nokopha komgudu womchamo
• Ukopha ngamakhala
• Ukopha isikhathi eside ngokusikeka, ukukhishwa kwamazinyo nokuhlinzwa
• Ukopha okuqala ngaphandle kwesizathu

Uma ungumuntu wokuqala emndenini onenkinga yokusolwa yokopha, umhlinzeki wakho wezokunakekelwa kwempilo uzo-oda uchungechunge lwezivivinyo ezibizwa nge-coagulation Study. Lapho isici esithile sesitholakele, abanye abantu emndenini wakho bazodinga ukuhlolwa ukuze kutholakale ukuphazamiseka.

Ukuhlolwa kokuthola ukuthi i-hemophilia A ihlanganisa yini:

• Isikhathi se-Prothrombin
• Isikhathi sokopha
• Izinga le-Fibrinogen
• Isikhathi esithile se-thromboplastin (PTT)
• Umsebenzi weSerum factor VIII

Ukwelashwa kubandakanya ukufaka esikhundleni se-clotting factor elahlekile. Uzothola ukugxila kwe-factor VIII. Ukuthi uthola malini kuncike ku:

• Ukonakala kokopha
• Indawo yokopha
• Isisindo sakho nokuphakama

I-hemophilia emnene ingalashwa nge-desmopressin (DDAVP). Lo muthi usiza ukukhululwa komzimba factor VIII okugcinwe ngaphakathi kolwelwesi lwemithambo yegazi.

Ukuvikela inkinga yokuphuma kwegazi, abantu abane-hemophilia nemindeni yabo bangafundiswa ukunikeza i-factor VIII egxila emakhaya ezimpawu zokuqala zokopha. Abantu abanezinhlobo ezinzima zalesi sifo bangadinga ukwelashwa okuvamile.

I-DDAVP noma i-factor VIII concentrate ingadingeka futhi ngaphambi kokukhishwa kwamazinyo noma ukuhlinzwa.

Kufanele uthole umuthi wokugoma i-hepatitis B. Abantu abane-hemophilia maningi amathuba okuthi bathole i-hepatitis B ngoba bangathola imikhiqizo yegazi.

Abanye abantu abane-hemophilia A bakha ama-antibodies ku-factor VIII. La ma-antibody abizwa ngokuthi ama-inhibitors. Ama- inhibitors ahlasela isici VIII ukuze singabe sisasebenza. Ezimweni ezinjalo, kunganikezwa into ejiyile eyenziwe ngumuntu ebizwa nge-VIIa.

Unganciphisa ukucindezela kokugula ngokujoyina iqembu lokwesekwa kwe-hemophilia. Ukwabelana nabanye abanokuhlangenwe nakho okuvamile nezinkinga kungakusiza ungazizwa uwedwa.

Ngokwelashwa, abantu abaningi abane-hemophilia A bayakwazi ukuphila impilo ejwayelekile.

Uma une-hemophilia A, kufanele uhlolwe njalo nge-hematologist.

Izinkinga zingafaka:

• Izinkinga ezihlangene zesikhathi eside, ezingadinga ukushintshwa okuhlanganyelwe
• Ukopha ebuchosheni (i-intracerebral hemorrhage)
• Amahlule egazi ngenxa yokwelashwa

Shayela umhlinzeki wakho uma:

• Izimpawu zesifo sokopha ziyaqala
• Ilungu lomndeni litholakale line-hemophilia A
• Une-hemophilia A futhi uhlela ukuba nezingane; ukwelulekwa ngofuzo kuyatholakala

Ukwelulekwa ngofuzo kunganconywa. Ukuhlola kungakhomba abesifazane namantombazane abaphethe isakhi sofuzo i-hemophilia. Khomba abesifazane namantombazane abaphethe ufuzo lwe-hemophilia.

Ukuhlola kungenziwa ngesikhathi sokukhulelwa enganeni esibelethweni sikanina.

Ukuntuleka kwe-Factor VIII; I-hemophilia yakudala; Ukuphazamiseka kwegazi - i-hemophilia A

• Amahlule egazi

UCarcao M, Moorehead P, uLillicrap D.Hemophilia A noB B. Ku: Hoffman R, Benz EJ, Silberstein LE, et al, eds. I-Hematology: Izimiso Eziyisisekelo Nokuzijwayeza. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 135.

UScott JP, uZamcolo VH. Ukushoda kwegazi lokunqanda isici (ukuphazamiseka kwegazi). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 503.