Yintoni iHemophilia A?

Umxholo

• Yintoni ebangela ihemophilia A?
• Yahluke njani i-hemophilia A ku-B no-C?
• Ngubani osemngciphekweni?
• Ziintoni iimpawu zehemophilia A?
• I-hemophilia enzima
• I-hemophilia ephakathi
• Ubushushu behemophilia
• Ichongwa njani i-hemophilia A?
• Zeziphi iingxaki zehemophilia A?
• Inyangwa njani i-hemophilia A?
• Ubushushu behemophilia A
• Ubunzima behemophilia A
• Yintoni imbono?

IHemophilia A ubukhulu becala kukuphazamiseka kwemfuza okubangelwa yiprotheyini yokunqumka engekhoyo okanye enesiphene ebizwa ngokuba yi-factor VIII. Ikwabizwa ngokuba yi-classical hemophilia okanye i-factor VIII. Kwiimeko ezinqabileyo, ayizuzwa njengelifa, kodwa endaweni yoko ibangelwa kukungaziphathi kakuhle komzimba ngaphakathi komzimba wakho.

Abantu abane-hemophilia A bopha kwaye batyumke ngokulula, kwaye igazi labo lithatha ixesha elide ukwenza amahlwili. IHemophilia A yimeko enqabileyo, enzulu engenalo unyango, kodwa iyanyangeka.

Funda ukuze ufumane ukuqonda okungcono kwesi sifo sopha, kubandakanya izizathu, umngcipheko, iimpawu kunye neengxaki ezinokubakho.

Yintoni ebangela ihemophilia A?

IHemophilia A idla ngokuba sisifo semfuza. Oku kuthetha ukuba kubangelwa lutshintsho (utshintsho) kuhlobo oluthile. Xa olu tshintsho luzuzwe njengelifa, ludluliselwa kubazali luye ebantwaneni.

Utshintsho oluthile olwenza i-hemophilia A ikhokelele ekusweleni kwento ekunqandayo ebizwa ngokuba yi-factor VIII. Umzimba wakho usebenzisa izinto ezahlukeneyo zokunqanda ukunceda amahlwili enxebeni okanye ekonzakaleni.

Ihlwili yinto efana nejeli eyenziwe ngamalungu emzimbeni wakho abizwa ngokuba ziiplatelets kunye nefibrin. Amahlwili ayanceda ukunqanda ukopha ekonzakaleni okanye ukusikwa kwaye kuvumele ukuba kuphole. Ngaphandle kwento eyaneleyo VIII, ukopha kuya kwandiswa.

Ngaphantsi kakhulu, i-hemophilia A yenzeka ngokungakhethiyo emntwini ongenayo ngaphambili imbali yosapho yesifo. Oku kwaziwa njenge-hemophilia A. Ifunyanwa ngokwesistim somzimba womntu ngokungachanekanga esenza izilwa-buhlungu ezihlasela i-VIII. Ukufumana i-hemophilia kuxhaphake kakhulu kubantu abaphakathi kweminyaka engama-60 nama-80 ubudala kunye nabasetyhini abakhulelweyo. Ukufumana i-hemophilia kuye kwaziwa ukusombulula, ngokungafaniyo nefom ezuzwe njengelifa.

Yahluke njani i-hemophilia A ku-B no-C?

Zintathu iintlobo zehemophilia: A, B (ekwabizwa ngokuba sisifo seKrisimesi), no-C.

IHemophilia A kunye no-B baneempawu ezifanayo kakhulu, kodwa zibangelwa kukutshintsha kwemfuza eyahlukileyo. IHemophilia A ibangelwa kukusilela kwento ekunqunqisa i-VIII. Iziphumo zeHemophilia B kukusilela kwento eyi-IX.

Kwelinye icala, i-hemophilia C ibangelwa kukusilela kwe-XI. Uninzi lwabantu abanolu hlobo lwe-hemophilia abanazimpawu kwaye bahlala bengenalo ukopha kumalungu nakwizihlunu.Ukopha ixesha elide kuhlala kwenzeka kuphela emva kokonzakala okanye uqhaqho. Ngokungafaniyo ne-hemophilia A kunye no-B, ihemophilia C ixhaphake kakhulu kumaAshkenazi amaYuda kwaye ichaphazela amadoda nabafazi ngokulinganayo.

I-factor VIII kunye ne-IX ayizizo zodwa izinto ezijiyisayo umzimba wakho kufuneka wenze amahlwili. Ezinye iingxaki ezinqabileyo zokopha zinokwenzeka xa kukho ukusilela kwezinto I, II, V, VII, X, XII, okanye XIII. Nangona kunjalo, ukusilela kwezinye izinto ezijiyileyo kunqabile kakhulu, ke akukho nto ingako yaziwayo malunga nezi ngxaki.

Zonke ezi ntlobo zintathu ze-hemophilia zithathwa njengezifo ezinqabileyo, kodwa i-hemophilia A yeyona ixhaphakileyo kwezi zintathu.

Ngubani osemngciphekweni?

Ihemophilia inqabile- yenzeka kuphela kwi-1 lokuzalwa kwama-5 000. IHemophilia A yenzeka ngokulinganayo kuwo onke amaqela obuhlanga nawobuhlanga.

Ibizwa ngokuba yimeko enxulunyaniswa ne-X kuba utshintsho olwenzeka kwi-hemophilia A lufumaneka kwi-X chromosome. Amadoda amisela ii-chromosomes zesini zomntwana, enika i-X chromosome kwiintombi kunye ne-Y chromosome koonyana. Ke abantu basetyhini abangama-XX kwaye abesilisa bayi-XY.

Xa utata ene-hemophilia A, ibekwe kwi-X chromosome yakhe. Ukucinga ukuba umama akangomntu ophetheyo okanye unesifo, akukho namnye koonyana bakhe oya kubudla ilifa le meko, kuba bonke oonyana bakhe baya kuba ne-Y chromosome kuye. Nangona kunjalo, zonke iintombi zakhe ziya kuba ngabathwali kuba bafumana i-chromosome ye-X echaphazelekayo evela kwi-hemophilia kuye kunye ne-X chromosome engachaphazelekanga evela kumama.

Abasetyhini abaphetheyo banethuba leepesenti ezingama-50 lokugqithisela utshintsho kubantwana babo, kuba enye i-X chromosome iyachaphazeleka kwaye enye ayisiyiyo. Ukuba oonyana bakhe bafumana i-chromosome ye-X echaphazelekayo, baya kuba nesifo, kuba ekuphela kwe-X chromosome yabo ivela kunina. Naziphi na iintombi ezizuza njengelifa ufuzo olusuka koonina ziya kuba ziziphathi.

Ekuphela kwendlela umfazi anokukhulisa ngayo i-hemophilia kuxa utata ene-hemophilia kwaye umama ephethe okanye unesifo ngokunjalo. Umfazi ufuna utshintsho lwe-hemophilia kuzo zombini ii-chromosomes ze-X ukubonisa iimpawu zale meko.

Ziintoni iimpawu zehemophilia A?

Abantu abane-hemophilia A bopha igazi rhoqo kwaye ixesha elide kunabantu abangenaso isifo. Ukopha kunokuba ngaphakathi, njengaphakathi kwamalungu okanye izihlunu, okanye kwangaphandle kwaye kuyabonakala, njengakukusikwa. Ubuzaza begazi buxhomekeke kubungakanani bento VIII umntu anayo kwiplasma yakhe. Kukho amanqanaba amathathu obukhali:

I-hemophilia enzima

Phantse iipesenti ezingama-60 zabantu abane-hemophilia A baneempawu ezinzima. Iimpawu ze-hemophilia eqatha zibandakanya:

• ukopha kulandela ukwenzakala
• ukopha okuzenzekelayo
• ziqinile, zidumbile, okanye iintlungu ezibangelwa kukopha kumalungu
• impumlo
• ukopha kakhulu ukusika okuncinci
• igazi kumchamo
• igazi esitulweni
• ukugruzuka okukhulu
• iintsini ezophayo

I-hemophilia ephakathi

Phantse iipesenti ezili-15 zabantu abane-hemophilia A banamatyala aphakathi. Iimpawu zokumodareyitha i-hemophilia A ziyafana ne-hemophilia A kakhulu, kodwa azikho nzulu kwaye zivela ngokufuthi. Iimpawu zibandakanya:

• ukopha ixesha elide emva kokonzakala
• ukopha okuzenzekelayo ngaphandle kwesizathu
• ukutyumka ngokulula
• ukuqina ngokudibeneyo okanye iintlungu

Ubushushu behemophilia

Malunga neepesenti ezingama-25 zehemophilia A iimeko zithathwa njengobulali. Rhoqo ukuxilongwa akwenziwa de kube semva kokulimala kakhulu okanye uqhaqho. Iimpawu zibandakanya:

• ukopha ixesha elide emva kokulimala kakhulu, ukwenzakala, okanye utyando, njengokukhupha izinyo
• ukugruzuka okulula nokopha
• ukopha okungaqhelekanga

Ichongwa njani i-hemophilia A?

Ugqirha wenza uxilongo ngokulinganisa inqanaba lomsebenzi we-VIII kwisampulu yegazi lakho.

Ukuba kukho imbali yosapho ye-hemophilia, okanye umama ophetheyo owaziwayo, uvavanyo lokuqonda isifo lunokwenziwa ngexesha lokukhulelwa. Oku kubizwa ngokuba kukuxilongwa ngaphambi kokubeleka.

Zeziphi iingxaki zehemophilia A?

Ukuphindaphinda nokuphaphaza ukuphuma kwegazi kunokukhokelela kwiingxaki, ngakumbi ukuba ayinyangwa. Oku kubandakanya:

• Anemia kakhulu
• umonakalo odibeneyo
• ukopha okunzulu ngaphakathi
• iimpawu ze-neurological ekuphumeni kwegazi ngaphakathi kwengqondo
• impendulo yomzimba yokuzikhusela kunyango

Ukufumana ukunyuswa kwegazi elinikiweyo kukonyusa umngcipheko wosulelo, njenge-hepatitis. Nangona kunjalo, kule mihla igazi elinikelwayo livavanywa kakuhle ngaphambi kokuba litofelwe.

Inyangwa njani i-hemophilia A?

Akukho lunyango lwe-hemophilia A kwaye abo banesifo bafuna unyango lobomi bonke. Kuyacetyiswa ukuba abantu bafumane unyango kwiziko elikhethekileyo lonyango lwe-hemophilia (HTC) nanini na kunokwenzeka. Ukongeza kunyango, ii-HTCs zibonelela ngezixhobo kunye nenkxaso.

Unyango lubandakanya ukubuyisela into engekhoyo ngokuvala igazi. Inqaku VIII linokufumaneka kwiminikelo yegazi, kodwa ngoku ihlala yenziwe ngokufakelwa elebhu. Oku kubizwa ngokuba yinto ephindaphindayo VIII.

Ukuhamba rhoqo kunyango kuxhomekeke kubukhulu besifo:

Ubushushu behemophilia A

Abo baneentlobo ezimanyumnyezi zehemophilia A banokufuna kuphela unyango olunokubuyiselwa endaweni emva kwesiqendu esopha. Oku kubhekiswa kuko njengonyango lwe-episodic okanye lwebango. Ukufakwa kwehomoni eyaziwa njenge-desmopressin (DDAVP) kunokunceda ukukhuthaza umzimba ukuba ukhulule ngakumbi into yokunqanda ukunqanda isiqendu sokopha. Amayeza abizwa ngokuba zii-fibrin sealants anokusetyenziswa kwindawo enenxeba ukunceda ukuphilisa.

Ubunzima behemophilia A

Abantu abane-hemophilia A enzima banokufumana ukumana bengeniswa ngamanqaku e-VIII ukunceda ukuthintela iziqendu zokopha kunye neengxaki. Oku kubizwa ngokuba lonyango lweprophylactic. Ezi zigulana zinokuqeqeshelwa ukunika ukumnika ekhaya. Iimeko ezinzima zingadinga unyango lomzimba ukunciphisa iintlungu ezibangelwa kukopha kumalungu. Kwiimeko ezinzima, utyando luyafuneka.

Yintoni imbono?

Imbonakalo ixhomekeke ekubeni umntu ufumana unyango olufanelekileyo okanye hayi. Abantu abaninzi abane-hemophilia A bayakufa ngaphambi kokuba babe badala ukuba abafumani nkathalo yaneleyo. Nangona kunjalo, ngonyango olululo, ubude obuqhelekileyo bokuphila buqikelelwa.