IHemophilia B

IHemophilia B sisifo sokufa esivela kwilifa esibangelwa kukungabikho kwegazi ekunqandeni igazi i-IX. Ngaphandle kwento eyaneleyo ye-IX, 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 izinto ezijiyisayo. Unokuba namathuba aphezulu okuphuma egazini ngokugqithisileyo ukuba enye okanye ezingakumbi zezi zinto zilahlekile okanye azisebenzi ngendlela ebekufanele ukuba zisebenza ngayo.

Inqaku IX (elithoba) yenye yezinto ezinje ngokujiya. IHemophilia B sisiphumo somzimba ongenzi ngokwaneleyo i-IX. IHemophilia B ibangelwa luphawu oluxhamliweyo oludityaniswe ne-X, kunye nofuzo olungalunganga oluku-X chromosome.

Abasetyhini baneekopi ezimbini ze-X chromosome. Ukuba i-factor IX ye-chromosome enye ayisebenzi, i-gene kwenye i-chromosome ingenza umsebenzi wokwenza i-IX eyaneleyo.

Amadoda ane-X chromosome enye kuphela. Ukuba i-factor IX ye-gene ilahlekile kwi-X ye-chromosome yenkwenkwe, iya kuba ne-Hemophilia B. Ngenxa yesi sizathu, abaninzi abantu abane-hemophilia B bangamadoda.

Ukuba umntu obhinqileyo unesiphene kwi-IX, uthathwa njengomthwali. Oku kuthetha ukuba ufuzo olungalunganga lunokudluliselwa ebantwaneni bakhe. Amakhwenkwe azelwe kula mabhinqa anethuba elingama-50% lokuba nehemophilia B. Iintombi zawo zinethuba elingama-50% lokuba ngumthuthi.

Bonke abantwana ababhinqileyo abangamadoda abane-hemophilia bathwala uhlobo olungalunganga.

Imiba yomngcipheko we-hemophilia B ibandakanya:

• Imbali yosapho yokopha
• Ukuba yindoda

Ubunzima beempawu ziyahluka. Ukopha ixesha elide luphawu oluphambili. Ihlala iqala ukubonwa xa umntwana esoluka. 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 lokuchonga i-hemophilia B lubandakanya:

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

Unyango lubandakanya ukubuyisela into engekhoyo. Uya kufumana ingqwalaselo ye-IX. Ufumana malini ngokuxhomekeke:

• Ukomelela kokopha
• Indawo yokopha
• Ubunzima bakho nokuphakama

Ukuthintela ingxaki yokuphuma kwegazi, abantu abane-hemophilia kunye neentsapho zabo banokufundiswa ukuba banike i-factor IX egxila ekhaya kwiimpawu zokuqala zokopha. Abantu abaneentlobo ezinzima zesifo banokufuna ukumiliselwa rhoqo, ukuthintela.

Ukuba une-hemophilia eqatha, kusenokufuneka uthathe i-IX yokugxila ngaphambi kotyando okanye iintlobo ezithile zomsebenzi wamazinyo.

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

Abanye abantu abane-hemophilia B bahlakulela ii-antibodies kwi-IX. Ezi ntsholongwane zibizwa ngokuba ziinhibitors. I-inhibitors ihlasela i-IX 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 B luyakwazi ukuphila ubomi obuqhelekileyo.

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

Iingxaki zinokubandakanya:

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

Fowunela umnikezeli wakho ukuba:

• Iimpawu zesifo sokopha ziyakhula
• Ilungu losapho lifunyenwe line-hemophilia B
• Ukuba une-hemophilia B, kwaye uceba ukuba nabantwana; ingcebiso ngemfuzo iyafumaneka

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

Ukuvavanywa kunokwenziwa ngexesha lokukhulelwa komntwana osesibelekweni sikanina.

Isifo seKrisimesi; Inqaku IX hemophilia; Ukuphazamiseka kwegazi - ihemophilia B

• I-X enxulumene neziphene zemfuza ezi-X-amakhwenkwe achaphazeleka njani
• I-X enxulumene neziphene zemfuza ezi-X-indlela amantombazana achaphazeleka ngayo
• I-X enxulumene neziphene zemfuza
• Iiseli zegazi
• 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.