IHemophilia A

IHemophilia A sisifo sokufa esivela kwilifa esibangelwa kukuswela kwegazi ekunqandeni igazi VIII. Ngaphandle kwento eyaneleyo VIII, igazi alinakugquma ngokufanelekileyo ukulawula ukopha.

Xa usopha, uthotho lweempendulo zenzeka emzimbeni onceda amahlwili egazi. Le nkqubo ibizwa ngokuba yi-coagulation cascade. Ibandakanya iiproteni ezikhethekileyo ezibizwa ngokuba yi-coagulation, okanye i-clotting, factor. Unokuba namathuba aphezulu okuphuma egazini ngokugqithisileyo ukuba enye okanye ezingakumbi zezi zinto zilahlekile okanye azisebenzi ngendlela ebekufanele ukuba zisebenza ngayo.

Inqaku VIII (isibhozo) yenye yezinto ezijiyayo. IHemophilia A sisiphumo somzimba ongenzi ngokwaneleyo i-VIII.

IHemophilia A ibangelwa lifa elidityaniswe njengelifunyenwe ngu-X, kunye nofuzo olungalunganga oluku-X chromosome. Abasetyhini baneekopi ezimbini ze-X chromosome. Ke ukuba into VIII yemfuza kwi-chromosome enye ayisebenzi, i-gene kwenye i-chromosome inokwenza umsebenzi wokwenza i-VIII eyaneleyo.

Amadoda ane-X chromosome enye kuphela. Ukuba i-factor VIII ye-gene ilahlekile kwi-X chromosome yenkwenkwe, uya kuba ne-hemophilia A. Ngenxa yesi sizathu, uninzi lwabantu abane-hemophilia A yindoda.

Ukuba umfazi unesifo esingafezekanga VIII, uthathwa njengomthwali. Oku kuthetha ukuba ufuzo olungalunganga lunokudluliselwa ebantwaneni bakhe. Amakhwenkwe azalwa ngaba bafazi anethuba lama-50% lokuba ne-hemophilia A. Iintombi zabo zinama-50% ithuba lokuba ngabathwali. Bonke abantwana ababhinqileyo abangamadoda abane-hemophilia bathwala uhlobo olungalunganga. Imiba yomngcipheko we-hemophilia A ibandakanya:

• Imbali yosapho yokopha
• Ukuba yindoda

Ubunzima beempawu ziyahluka. Ukopha ixesha elide luphawu oluphambili. Ihlala iqala ukubonwa xa kusokwe umntwana. Ezinye iingxaki zokopha zihlala zibonakala xa usana luqala ukukhasa nokuhamba.

Amatyala amancinci anokungaqapheleki kude kube kamva ebomini. Iimpawu zingaqala ukwenzeka emva kotyando okanye ukwenzakala. Ukopha kwangaphakathi kunokwenzeka naphina.

Iimpawu zingabandakanya:

• Ukopha kumalungu ngokudibana nentlungu kunye nokudumba
• Igazi kumchamo okanye isitulo
• Ukuthuthuzela
• Amathumbu emathunjini kunye nomchamo wokuphuma kwegazi
• Iimpumlo
• Ukopha ixesha elide kunqunyulwa, kukhutshwe izinyo, kunye notyando
• Ukopha okuqala ngaphandle kwesizathu

Ukuba ungumntu wokuqala kusapho ukuba unesifo sokukrokra esityholwayo, umboneleli wakho wezononophelo lwempilo uya kuyalela uthotho lweemvavanyo ezibizwa ngokuba sisifundo sokujiya. Nje ukuba isiphene esithile sichongwe, abanye abantu kusapho lwakho baya kufuna iimvavanyo zokufumanisa isifo.

Uvavanyo lokufumanisa isifo sehemophilia A lubandakanya:

• Ixesha leprothrombin
• Ixesha lokopha
• Inqanaba le-Fibrinogen
• Ixesha lecandelo le-thromboplastin (PTT)
• Umsebenzi weSerum VIII

Unyango lubandakanya ukubuyisela into engekhoyo. Uya kufumana ingqwalaselo yento VIII. Ufumana malini ngokuxhomekeke:

• Ukomelela kokopha
• Indawo yokopha
• Ubunzima bakho nokuphakama

Ubushushu behemophilia bunokunyangwa nge-desmopressin (DDAVP). Eli yeza linceda ukukhutshwa komzimba VIII okugcinwe ngaphakathi kwimida yegazi.

Ukuthintela ingxaki yokuphuma kwegazi, abantu abane-hemophilia kunye neentsapho zabo banokufundiswa ukunika i-factor VIII yokugxila ekhaya kwiimpawu zokuqala zokopha. Abantu abaneentlobo eziqatha zesifo banokufuna unyango rhoqo.

I-DDAVP okanye i-factor VIII ye-concentrate inokufuneka ngaphambi kokuba kukhutshwe okanye kwenziwe utyando.

Kufuneka ufumane isitofu sokugonya i-hepatitis B. Abantu abane-hemophilia kunokwenzeka ukuba bafumane i-hepatitis B kuba banokufumana iimveliso zegazi.

Abanye abantu abane-hemophilia A bakhulisa ii-antibodies kwi-VIII. Ezi ntsholongwane zibizwa ngokuba ziinhibitors. I-inhibitors ihlasela i-VIII ukuze ingasebenzi. Kwiimeko ezinjalo, into eyenziweyo eyenziwe ngumntu ebizwa ngokuba yi-VIIa inokunikwa.

Ungaluphelisa uxinzelelo lokugula ngokujoyina iqela lenkxaso yehemophilia. Ukwabelana nabanye abanamava afanayo kunye neengxaki kunokukunceda ungaziva ulilolo.

Ngonyango, uninzi lwabantu abane-hemophilia A luyakwazi ukuphila ubomi obuqhelekileyo.

Ukuba une-hemophilia A, kuya kufuneka uhlolwe rhoqo nge-hematologist.

Iingxaki zinokubandakanya:

• Iingxaki zexesha elide ezidibeneyo, ezinokufuna ukutshintshwa ngokudibeneyo
• Ukopha ebuchotsheni (ukuphuma kwegazi ngaphakathi kwi-intracerebral hemorrhage)
• Amahlwili egazi ngenxa yonyango

Fowunela umnikezeli wakho ukuba:

• Iimpawu zesifo sokopha ziyakhula
• Ilungu losapho lifunyenwe line-hemophilia A
• Une-hemophilia A kwaye uceba ukuba nabantwana; ingcebiso ngemfuzo iyafumaneka

Ingcebiso ngemfuzo inokucetyiswa. Ukuvavanywa kunokuchonga abasetyhini kunye namantombazana aphethe i-hemophilia gene. Ukuchonga abafazi kunye namantombazana abaphethe i-hemophilia gene.

Ukuvavanywa kunokwenziwa ngexesha lokukhulelwa komntwana kwisibeleko sikanina.

Ukusilela kweFactor VIII; Hemophilia Classic; Ukuphazamiseka kwegazi - ihemophilia A

• Amahlwili egazi

UCarcao M, Moorehead P, uLillicrap D.Hemophilia A kunye no-B Ku: Hoffman R, Benz EJ, Silberstein LE, et al, eds. I-Hematology: Imigaqo esisiseko kunye nokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 135.

UScott JP, uMkhukula VH. Ukusilela kwe-clotting factor factor (ukuphazamiseka kwegazi). Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 503.