Iyini i-Hemophilia? Izimpawu, Izimbangela, Nokwelapha

I-Hemophilia yisimo sokuphuza igazi esidluliselwa ngezofu, lapho igazi lakho lingabambeki kahle uma ulimale. Lokhu kwenzeka ngoba umzimba wakho awenzi amaprotheni anele okuthiwa ama-clotting factors, asiza ekumiseni ukuphuza kwegazi. Nakuba kuzwakala kukhulu, izigidi zabantu abane-hemophilia baphila impilo egcwele, ephilile ngokunakekelwa okufanele kwezokwelapha nokwenza izinguquko ekuphileni kwabo.

Iyini i-Hemophilia?

I-Hemophilia yisimo esidluliselwa ngezofu esithinta ikhono legazi lakho lokwenza ama-clots. Uma uthola isiqeba noma ukulimala, igazi lakho kufanele liqine ngokwemvelo futhi lenze i-plug ukuze limise ukuphuza kwegazi. Abantu abane-hemophilia banezinga eliphansi lamaprotheni athile okuthiwa ama-clotting, ngakho ukuphuza kwegazi kuthatha isikhathi eside ukuyeka.

Cabanga ngokuqina kwegazi njengokulandelana kwezinto lapho isinyathelo ngasinye sixhomeke kwesangaphambili. Ku-hemophilia, isixhumanisi esibalulekile kuleli landelana siyaphela noma sibuthakathaka. Lokhu akusho ukuthi uzophuza igazi uze ufe ngesiqeba esincane, kodwa kusho ukuthi ukulimala kudinga ukunakekelwa nokwelashwa okucophelelekile.

Lesi simo sibathinta kakhulu amadoda, nakuba abesifazane bangaba ngabahambi futhi ngezinye izikhathi babe nezimpawu ezilula. Sikhonjwa kusukela ekuzalweni, kodwa izimpawu zingase zivele kamuva ebuntwaneni lapho abantwana beba nesehlakalo.

Ziyini Izinhlobo ze-Hemophilia?

Kunezinhlobo ezimbili eziyinhloko ze-hemophilia, ngayinye ibangelwa ukushoda kwama-clotting factors ahlukene. I-Hemophilia A uhlobo oluvamile kakhulu, oluthinta cishe u-80% wabantu abanesimo. Kwenzeka uma umzimba wakho ungenzi iprotheni eyanele ye-factor VIII.

I-Hemophilia B, ebizwa nangokuthi i-Christmas disease, kwenzeka uma ulahlekelwe noma unezinga eliphansi le-factor IX protein. Zombili izinhlobo zibangela izimpawu ezifanayo, kodwa zidinga izindlela zokwelapha ezahlukene ngoba zihilela ama-clotting factors ahlukene.

Uhlobo ngalunye lungaba olukhulu, oluphakathi, noma olukhulu kuncike ekubeni umzimba wakho ukhulisa kangakanani i-clotting factor. Izimo ezinzima zinezinga eliphansi kuno-1% lama-clotting factor ajwayelekile, kuyilapho izimo ezilula zingaba no-5-40% amazinga ajwayelekile.

Ziyini Izimpawu ze-Hemophilia?

Isimpawu esiyinhloko ukuphuza kwegazi okuhlala isikhathi eside kunokujwayelekile ngemuva kokulimalala noma izinqubo zezokwelapha. Ungase uqaphele ukuthi iziqeba ezincane zithatha isikhathi eside ukuyeka ukuphuza kwegazi, noma ukuthi uqhaqhazela kalula kakhulu ngezikhafu ezincane.

Nawa ama-sintoma abalulekile okumele uwabukele, uqale ngalawo avamile kakhulu:

• Ukuqhaqhazela okukhulu, okujulile okuvela kalula ngezikhafu ezincane
• Ukuphuza kwegazi okuqhubeka isikhathi eside ngemuva kweziqeba noma umsebenzi wama-dental
• Ukuphuza kwekhala okuvamile okunzima ukuyeka
• Ubuhlungu nokuvuvukala kwamajoini, ikakhulukazi emadoyeni, ezingalweni, nasezinqenqemeni
• Igazi emanzini noma emathunjini
• Izikhathi zenyanga ezinzima kubesifazane abahamba nge-gene

Ukuphuza kwegazi kwangaphakathi emajoyini nasemisipeni kungabangela ubuhlungu nokuvuvukala okukhulu. Lolu hlobo lokuphuza kwegazi lungase lwenzeke ngaphandle kokulimalala okubonakalayo, ikakhulukazi ezimweni ezinzima. Ukuphuza kwegazi kwamajoini kukhathazayo ngokukhethekile ngoba izigameko eziphindaphindayo zingalimaza ijoyini ngokuhamba kwesikhathi.

Ezimweni ezingavamile kodwa ezinzima, ukuphuza kwegazi kungase kwenzeke ebuchosheni noma kwamanye amalungu abalulekile. Lokhu kungenzeka kakhulu ngemuva kokulimalala ekhanda futhi kudinga ukunakekelwa kwezokwelapha ngokushesha. Izimpawu zihlanganisa izikhathi zikhanda ezinzima, ukugabha, ukuphazamiseka, noma ubuthakathaka ohlangothini olulodwa lomzimba.

Yini ebangela i-Hemophilia?

I-Hemophilia ibangelwa ukuguqulwa kwe-genetic okuthinta ukukhiqizwa kwama-clotting factors. Lezi zinguquko zidluliselwa ngezofu, okusho ukuthi zidluliselwa kubazali kubantwana ngezofu ezitholakala ku-chromosome X.

Njengoba amadoda enama-chromosome X ayodwa, adinga ikhophi elilodwa le-gene eguqukile ukuze athuthukise i-hemophilia. Abesifazane bane-chromosome X ezimbili, ngakho ngokuvamile badinga ukuguqulwa kokubili ukuze babe nesimo esiphelele, okungavamile kakhulu.

Cishe izingxenye ezimbili kwezintathu zezimo zidluliselwa kubazali abahamba nge-gene. Noma kunjalo, cishe ingxenye eyodwa kwezintathu zezimo zenzeka ngenxa yokuguqulwa okungaqondakali kwe-genetic, okusho ukuthi ayikho imbali yomndeni yesimo.

Ukuhluka kwe-genetic kuthinta ngokukhethekile imiyalo umzimba wakho eyiyisebenzisa ukwenza ama-clotting factors VIII noma IX. Ngaphandle kwamaprotheni anele, inqubo ejwayelekile yokuqina kwegazi iphazamiseka, okubangela ukuphuza kwegazi okuhlala isikhathi eside.

Nini Okufanele Ubone Udokotela Nge-Hemophilia?

Kufanele ufuna ukunakekelwa kwezokwelapha ngokushesha uma uhlangabezana nezibonakaliso zokuphuza kwegazi okukhulu. Lokhu kuhlanganisa izikhathi zikhanda ezinzima ngemuva kokulimalala ekhanda, ukuphuza kwegazi okukhulu okungeke kuyeke, noma izibonakaliso zokuphuza kwegazi kwangaphakathi njengegazi emanzini noma emathunjini.

Ngokuqondene nezinkinga eziqhubekayo, bona udokotela wakho uma uqaphela izindlela zokuqhaqhazela ezingavamile, ukuphuza kwekhala okuvamile, noma ubuhlungu nokuvuvukala kwamajoini ngaphandle kwesizathu esicacile. Abantwana abaqhaqhazela kalula noma abanezigameko zokuphuza kwegazi ngemuva kokulimalala okuncane kufanele bahlolwe.

Uma unembali yomndeni ye-hemophilia futhi uhlela ukuba nezingane, ukwelulekwa kwe-genetic kungakusiza ukuqonda ingozi. Abesifazane ababa ngabahambi bangase bazuze ekuhlolweni ukuze baqonde amazinga abo e-clotting factor.

Ukunakekelwa okuphaphandakazayo kubalulekile kunoma yiliphi isigameko sokulimala ekhanda, ukulimala okukhulu, noma ukuphuza kwegazi okungaphenduli ezinyathelweni ezijwayelekile zokuqala zokusiza. Ungalindi ukubona uma ukuphuza kwegazi kuyeka ngokwakho kulezi zimo.

Ziyini Izici Zengozi ze-Hemophilia?

Isici esiyinhloko sengozi ukuba nembali yomndeni ye-hemophilia, njengoba kuyisimo se-genetic esidluliselwa ngezofu. Uma umama wakho ehamba nge-gene noma uyihlo ene-hemophilia, unethuba elikhulu lokuzuza lesi simo noma ukuba umhambi.

Ukuba indoda kukwandisa kakhulu ingozi yakho ngoba ukuguqulwa kwe-genetic kutholakala ku-chromosome X. Amadoda adinga ikhophi elilodwa le-gene eguqukile ukuze athuthukise i-hemophilia, kuyilapho abesifazane ngokuvamile badinga amakhophi amabili.

Ngisho noma kungekho imbali yomndeni, ukuguqulwa okungaqondakali kwe-genetic kungenzeka, nakuba lokhu kungabikezelwa kancane. Izizwe ezithile zingase zibe namanani aphezulu kancane, kodwa i-hemophilia ithonya abantu bazo zonke izinhlanga nezizwe emhlabeni jikelele.

Ziyini Izingozi Ezingase Zenzeke Nge-Hemophilia?

Ukonakala kwamajoini enye yezingozi ezivamile zesikhathi eside lapho ukuphuza kwegazi kwenzeka ngokuphindaphindiwe emajoyini afanayo. Ngokuhamba kwesikhathi, lokhu kungabangela i-arthritis, ubuhlungu obuhlala njalo, nokunciphisa ukunyakaza uma kungalawulwa kahle.

Nawa ama-complications ayinhloko angase athuthuke:

• Ukonakala kwamajoini okungapheli ngenxa yezigameko zokuphuza kwegazi eziphindaphindayo
• Ubuhlungu obuhlala njalo nokunciphisa ukunyakaza
• Ukuphuza kwegazi kwemisipha okungacindezela izicubu
• Ukutheleleka ngenxa yokudluliselwa kwegazi (kungavamile ngokuhlola kwamanje)
• Ukuthuthukiswa kwama-inhibitors okwenza ukwelashwa kube lula kakhulu

Ama-inhibitors ayizinto zokulwa nezifo ezithuthukiswa ngezinye izikhathi yi-immune system yakho ngokumelene nokwelashwa kwe-clotting factor. Lokhu kwenzeka cishe ku-20-30% yabantu abane-hemophilia A enzima futhi kwenza ukwelashwa kube nzima kakhulu.

Ezimweni ezingavamile, izingozi zokuphuza kwegazi ezinzima zingaba ezingathí sina, ikakhulukazi lapho zenzeka ebuchosheni, ehlombe, noma kwamanye ama-area abalulekile. Noma kunjalo, ngokwelashwa okufanele nokunakekelwa, izinhlupheko eziningi zingavikeleka noma ziphathwe kahle.

I-Hemophilia Ihlonishwa Kanjani?

Ukuhlolwa ngokuvamile kuhilela ukuhlolwa kwegazi okuqapha amazinga e-clotting factor yakho nokuthi igazi lakho liqina kangakanani. Udokotela wakho uzoqala ngokubala igazi eliphelele nokulingwa okuqapha isikhathi sokuqina kwegazi.

Ama-factor assays athile angabona ngqo ukuthi yiliphi i-clotting factor eliphelele nokuthi ukushoda kukhulu kangakanani. Lezi zilingo ziqapha izinga lomsebenzi wama-factor VIII ne-IX egazini lakho.

Ukuhlolwa kwe-genetic kungabona ukuguqulwa okuthile okubangela i-hemophilia futhi kusize ekwenzeni izinqumo zokuhlela umndeni. Lokhu kuhlolwa kungabona futhi uma amalungu omndeni wesifazane ehamba nge-gene.

Uma kukhona imbali yomndeni, ukuhlolwa kungase kwenziwe ngesikhathi sokukhulelwa nge-amniocentesis noma i-chorionic villus sampling. Ukuhlolwa kwabakhulelwe akuyona into evamile, kodwa ukuhlolwa kunconywa uma kukhona imbali yomndeni eyaziwayo.

Iyini Ukwelashwa kwe-Hemophilia?

Ukuphatha okuyinhloko kuhilela ukufaka ama-clotting factors ashoda ngokuqhafaza. Lezi zinto ezikhiqizwe zingase zinikwe njalo ukuvimbela izingozi zokuphuza kwegazi noma ngokufunwa lapho ukuphuza kwegazi kwenzeka.

Ukuphatha okuvimbelayo kusho ukuthola ukuqhafaza okujwayelekile kwe-factor ukuze kugcinwe amazinga e-clotting afanele. Le ndlela iyasiza ekuvinjeni ukuphuza kwegazi okungaqondakali nokonakala kwamajoini, ikakhulukazi kubantu abane-hemophilia enzima.

Ukuphatha ngokufunwa kuhilela ukunikeza ama-factor concentrates kuphela lapho ukuphuza kwegazi kwenzeka. Le ndlela ingase ifaneleke kubantu abane-hemophilia elula noma ephakathi abangenazo izingozi zokuphuza kwegazi eziphindaphindayo.

Ukuphatha okusha kuhlanganisa ama-factor ahlala isikhathi eside adinga ukuqhafaza okuncane kanye nokuphatha okungeyona i-factor okusebenza ngokuhlukile ukuthuthukisa ukuqina kwegazi. Abanye abantu bazuza emithi esiza ekuvinjeni ukwehla kwama-blood clots.

Indlela Yokwelapha Ekhaya Ngesikhathi Se-Hemophilia?

Abantu abaningi abane-hemophilia bafunda ukuziqhafaza ngokwabo ama-factor ekhaya. Lokhu kuvumela ukwelashwa okusheshayo lapho ukuphuza kwegazi kwenzeka futhi kwenza ukwelashwa okuvimbelayo kube lula kakhulu.

Gcina i-first aid kit egcwele ngama-factor concentrates, ama-syringes, namanye ampahla. Qiniseka ukuthi amalungu omndeni wakho ayazi ukuthi angabona kanjani izingozi zokuphuza kwegazi nokuthi nini kufanele afune ukunakekelwa okuphaphandakazayo.

Faka u-ice bese ucindezela ezindaweni eziphuzayo ngesikhathi uhlanganisa ukwelashwa kwe-factor. Phakamisa indawo ethintekile uma kungenzeka futhi ugweme imithi efana ne-aspirin engase ikhulise ingozi yokuphuza kwegazi.

Gcina idayari yokuphuza kwegazi ukuze uqapha izingozi, ukwelashwa, nezimpendulo. Lolu lwazi lusisiza iqembu lakho lokunakekelwa kwezokwelapha ukulungisa uhlelo lwakho lokwelashwa nokuqonda izindlela.

I-Hemophilia Ingavikeleka Kanjani?

Njengoba i-hemophilia iyisimo se-genetic, ayikwazi ukuvinjelwa ngendlela evamile. Noma kunjalo, ukwelulekwa kwe-genetic nokuhlolwa kungasiza imindeni ukwenza izinqumo ezicacile mayelana nokuthola izingane.

Abahambi bangase bahlolwe ukuze baqonde ingozi yabo yokuhambisa lesi simo kubantwana babo. Ukuhlolwa ngaphambi kokuzalwa kuyatholakala emindenini enomlando we-hemophilia owaziwayo.

Okungavikeleka yizingozi zokuphuza kwegazi ngokuphatha okufanele. Ukuphatha okujwayelekile okuvimbelayo, ukugwema imisebenzi engozi, nokugcina ukuhlanzeka okuhle kwamazinyo konke kuyasiza ekuthuthukiseni izingozi zokuphuza kwegazi.

Ukuhlala ubuyekeza ngezifo zokugcoba nokugcina impilo enhle iyonke kuyasiza ekuvinjeni ukutheleleka okungase kuqede ukuphathwa kwe-hemophilia.

Kufanele Uzilungiselele Kanjani Imihlangano Yakho Nodokotela?

Ngaphambi komhlangano wakho, buza ulwazi mayelana nanoma yimiphi imbali yomndeni yezifo zokuphuza kwegazi. Bhala imibuzo ethile mayelana nezimpawu, izinketho zokwelapha, nokwenza izinguquko ekuphileni.

Letha uhlu lwayo yonke imithi kanye nezinye izinto ozithathayo, kuhlanganise nanoma yimiphi imikhiqizo yokuthengwa ngaphandle kwesikripthi. Gcina irekhodi lezingozi zokuphuza kwegazi zakamuva, kuhlanganise nokuthi zenzeke nini nokuthi zihlale isikhathi esingakanani.

Lungela ukuxoxa ngezinga lakho lomsebenzi nanoma yimiphi imingcele oyibonile. Udokotela wakho udinga ukuqonda ukuthi i-hemophilia ikuthinta kanjani impilo yakho yansuku zonke ukuze ancome ukwelashwa okufanele.

Cabanga ukuletha ilungu lomndeni noma umngani wokusekela nokusiza ukukhumbula ulwazi olukhulu oluxoxwe ngesikhathi somhlangano.

Iyini Iphuzu Eliyinhloko Mayelana ne-Hemophilia?

I-Hemophilia iyisimo se-genetic esilawuleka esithinta ukuqina kwegazi, kodwa akudingeki silimise impilo yakho kakhulu. Ngokunakekelwa okufanele kwezokwelapha, ukwelashwa, nokwenza izinguquko ekuphileni, abantu abaningi abane-hemophilia bangaphila impilo egcwele, ephilile.

Ukuhlolwa kwasekuqaleni nokuphathwa okufanele kubalulekile ekuvinjeni izingozi ezifana nokonakala kwamajoini. Ukusebenzisana eduze neqembu lokunakekelwa kwezokwelapha elikhethekile kuyasiza ekuqinisekiseni ukuthi uthola ukwelashwa okuphumelelayo okukhona.

Iphuzu elikhulu ukuqonda uhlobo lwakho oluthile nobunzima be-hemophilia, bese uthuthukisa uhlelo lokwelashwa oluphelele olufanelana nempilo yakho. Ukuqapha okujwayelekile nokwenza izinguquko kuyasiza ekuthuthukiseni ukunakekelwa kwakho ngokuhamba kwesikhathi.

Imibuzo Evamile Mayelana ne-Hemophilia

Bangadlala imidlalo yomzimba yini abantu abane-hemophilia?

Yebo, abantu abaningi abane-hemophilia bangabamba iqhaza emidlalweni yomzimba ngezinyathelo ezifanele. Imisebenzi engathinti kakhulu njengokubhukuda, i-track, ne-tennis ngokuvamile iyizinketho eziphephile. Imidlalo ethinta kakhulu idinga ukucabangela okucophelelekile nokuxoxa neqembu lakho lokunakekelwa kwezokwelapha mayelana nezinyathelo zokuvimbela ezengeziwe nokwenza izinguquko ekwelapheni.

Ingabe i-hemophilia iyadluliseka?

Cha, i-hemophilia ayidluliseki nhlobo. Yisimo se-genetic ozalwa naso, hhayi ukutheleleka okungadluliselwa komunye umuntu. Awukwazi ukuthola i-hemophilia ngokuba eduze komuntu onayo noma ngokuthinta igazi.

Bangaba ne-hemophilia yini abesifazane?

Nakuba kungavamile, abesifazane bangaba ne-hemophilia uma bezuza ama-gene aguqukile kubazali bobabili. Ngokuvamile, abesifazane bangaba ngabahambi abangase babe nezimpawu zokuphuza kwegazi ezilula. Abahambi besifazane bangase babe nezinkinga zokuphuza kwegazi, ikakhulukazi ngesikhathi senyanga, ukubeletha, noma ukuhlinzwa.

Bangaphila isikhathi esingakanani abantu abane-hemophilia?

Ngokwelashwa kwamanje, abantu abane-hemophilia bangaba nokuphila okujwayelekile noma okuhlangana nokuphila okujwayelekile. Iphuzu elikhulu ukuthola ukunakekelwa okufanele kwezokwelapha, ukulandela izinhlelo zokwelapha, nokuphatha lesi simo ngokuzikhandla ukuvimbela izingozi.

Ingabe kukhona ukwelashwa kwe-hemophilia?

Okwamanje, ayikho impilo ye-hemophilia, kodwa ukwelashwa kuphumelela kakhulu ekuphatheni lesi simo. Ucwaningo lwe-gene therapy lubonisa ithemba ngekusasa, futhi ezinye izifundo zeklinikhi zibonise imiphumela ekhuthazayo yokunikeza izixazululo zokwelashwa isikhathi eside.