Iyini i-hemophilia A?

-Delile

• Yini ebangela i-hemophilia A?
• Ngabe i-hemophilia A yehluke kanjani ku-B no-C?
• Ngubani osengozini?
• Ziyini izimpawu ze-hemophilia A?
• I-hemophilia enamandla
• I-hemophilia elinganiselayo
• I-hemophilia emnene
• Itholakala kanjani i-hemophilia A?
• Yiziphi izinkinga ze-hemophilia A?
• Yelashwa kanjani i-hemophilia A?
• I-hemophilia emnene A
• I-hemophilia enamandla A
• Uyini umbono?

I-Hemophilia A imvamisa kakhulu isifo sokopha kofuzo esidalwa yiprotheyini yokujiya elahlekile noma enesici ebizwa nge-factor VIII. Kubizwa nangokuthi i-classical hemophilia noma i-factor VIII. Ezimweni ezingavamile, ayizuzwa njengefa, kodwa kunalokho ibangelwa ukusabela okungafanele komzimba phakathi komzimba wakho.

Abantu abane-hemophilia A bopha futhi balimale kalula, futhi igazi labo lithatha isikhathi eside ukwakha amahlule. IHemophilia A yisimo esingajwayelekile, esibi futhi esingenalo ikhambi, kodwa siyelapheka.

Funda ukuze uthole ukuqonda okungcono kwalesi sifo sokopha, kufaka phakathi izimbangela, izici ezinobungozi, izimpawu, kanye nezinkinga ezingaba khona.

Yini ebangela i-hemophilia A?

I-hemophilia A ivame ukuba yisifo sofuzo. Lokhu kusho ukuthi kubangelwa izinguquko (ukuguquka) kwesakhi esithile. Lapho lokhu kuguquka kuzuzwa njengefa, kudluliselwa kusuka kubazali kuya ezinganeni.

Ukuguqulwa okuthile kwezakhi zofuzo okubangela i-hemophilia A kuholela ekushodeni kwento ekujiyisayo ebizwa nge-factor VIII. Umzimba wakho usebenzisa izinto ezahlukahlukene ezijiyayo ukusiza ukwakha amahlule enxebeni noma ekulimaleni.

Ihlule yinto efana ne-gel eyenziwe ngezinto zomzimba wakho ezibizwa ngama-platelets kanye ne-fibrin. Amahlule asiza ukumisa ukopha ekulimaleni noma ekusikeni futhi akuvumele kuphole. Ngaphandle kwesici VIII esanele, ukopha kuzolulwa.

Ngaphansi kakhulu, i-hemophilia A yenzeka ngokungahleliwe kumuntu ongenawo umlando wangaphambilini womndeni wesifo. Lokhu kwaziwa ngokuthi yi-hemophilia A. etholakele. Kuvamise ukubangelwa amasosha omzimba womuntu enza ngokungeyikho amasosha omzimba ahlasela isici VIII. I-hemophilia etholakele ivame kakhulu kubantu abaphakathi kweminyaka engama-60 nengama-80 ubudala nakwabesifazane abakhulelwe. I-hemophilia etholakalayo yaziwa ngokuxazulula, ngokungafani nefomu elizuzwe njengefa.

Ngabe i-hemophilia A yehluke kanjani ku-B no-C?

Kunezinhlobo ezintathu ze-hemophilia: A, B (eyaziwa nangokuthi isifo sikaKhisimusi), noC.

I-Hemophilia A no-B banezimpawu ezifanayo kakhulu, kodwa zidalwa ukuguquka kwezakhi zofuzo okuhlukile. I-hemophilia A ibangelwa ukuntuleka kwe-clotting factor VIII. I-Hemophilia B ibangelwa ukuntuleka kwe-factor IX.

Ngakolunye uhlangothi, i-hemophilia C ingenxa yesici se-XI. Iningi labantu abanalolu hlobo lwe-hemophilia abanazimpawu futhi imvamisa abopheli emajoyini nasemisipha.Ukopha isikhathi eside kwenzeka kuphela ngemuva kokulimala noma ukuhlinzwa. Ngokungafani ne-hemophilia A no-B, i-hemophilia C ivame kakhulu kuma-Ashkenazi amaJuda futhi ithinta abesilisa nabesifazane ngokulinganayo.

I-Factor VIII ne-IX akuzona kuphela izinto ezijiyisayo umzimba wakho odinga ukuzenza amahlule. Ezinye izifo ezingajwayelekile zokopha zingenzeka uma kunokushoda kwezici I, II, V, VII, X, XII, noma XIII. Kodwa-ke, ukushiyeka kulezi ezinye izinto zokuvala akuvamile kakhulu, ngakho-ke akukho okuningi okwaziwayo ngalezi zinkinga.

Zonke lezi zinhlobo ezintathu ze-hemophilia zibhekwa njengezifo ezingavamile, kepha i-hemophilia A iyona evame kakhulu kulezi zintathu.

Ngubani osengozini?

I-hemophilia ayivamile - ivela kumuntu oyedwa kuphela kwabazalwa abangu-5 000. I-hemophilia A ivela ngokulinganayo kuzo zonke izinhlanga nezinhlanga.

Ibizwa ngokuthi yisimo esixhunywe ku-X ngoba ukuguqulwa okubangela i-hemophilia A kutholakala ku-X chromosome. Abesilisa banquma ama-chromosomes ocansi engane, banikeze i-X chromosome emadodakazini ne-Y chromosome emadodaneni. Ngakho-ke abesifazane bangu-XX kanti abesilisa bayi-XY.

Lapho ubaba ene-hemophilia A, itholakala ku-X chromosome yakhe. Uma ucabanga ukuthi umama akayena ophethe noma onalesi sifo, akekho noyedwa emadodaneni akhe oyothola lesi simo, ngoba wonke amadodana akhe azoba ne-chromosome Y kuye. Kodwa-ke, wonke amadodakazi akhe azoba ngabathwali ngoba athola i-chromosome ye-X eyodwa ethinteke nge-hemophilia evela kuye ne-X chromosome engathintekiyo evela kumama.

Abesifazane abathwali banethuba elingamaphesenti angama-50 lokudlulisa lokhu kuguqukela ezinganeni zabo, ngoba eyodwa i-X chromosome iyathinteka kanti enye ayithinteki. Uma amadodana akhe ezuza i-chromosome ye-X ethintekile, azoba nalesi sifo, njengoba i-chromosome yabo eyi-X kuphela ivela kunina. Noma imaphi amadodakazi athola ifa elithintekile kunina azoba ngabathwali.

Ukuphela kwendlela owesifazane angahlakulela ngayo i-hemophilia ukuthi ngabe ubaba une-hemophilia futhi umama ungumphathi noma unaso lesi sifo. Owesifazane udinga ukuguqulwa kwe-hemophilia kuwo womabili ama-chromosomes we-X ukukhombisa izimpawu zalesi simo.

Ziyini izimpawu ze-hemophilia A?

Abantu abane-hemophilia A bopha kaningi futhi isikhathi eside kunabantu abangenaso lesi sifo. Ukopha kungaba ngaphakathi, njengaphakathi kwamalunga noma imisipha, noma kwangaphandle futhi kubonakale, njengokusikwe. Ubukhulu begazi buncike ekutheni umuntu unesici esingakanani VIII ku-plasma yegazi lakhe. Kunamazinga amathathu obukhali:

I-hemophilia enamandla

Cishe amaphesenti angama-60 abantu abane-hemophilia A banezimpawu ezinzima. Izimpawu ze-hemophilia enzima zifaka:

• ukopha kulandela ukulimala
• ukopha okuzenzekelayo
• amalunga aqinile, avuvukile, noma abuhlungu abangelwa ukopha ezinhlanganweni
• ukuphuma kwamakhala
• ukopha kakhulu ngokusika okuncane
• igazi emchameni
• igazi esitokisini
• imihuzuko emikhulu
• izinsini ezophayo

I-hemophilia elinganiselayo

Cishe amaphesenti ayi-15 abantu abane-hemophilia A banecala elilinganisiwe. Izimpawu ze-hemophilia A elinganiselayo ziyefana ne-hemophilia A enamandla, kepha azibi kakhulu futhi zivela kancane. Izimpawu zifaka:

• ukopha isikhathi eside ngemuva kokulimala
• ukopha okuzenzekelayo ngaphandle kwesizathu esisobala
• ukulimaza kalula
• ukuqina okuhlangene noma ubuhlungu

I-hemophilia emnene

Cishe amaphesenti angama-25 we-hemophilia A amacala athathwa njengamnene. Imvamisa ukuxilongwa akwenziwa kuze kube ngemuva kokulimala kanzima noma ukuhlinzwa. Izimpawu zifaka:

• ukopha isikhathi eside ngemuva kokulimala kanzima, ukuhlukumezeka, noma ukuhlinzwa, njengokukhishwa kwamazinyo
• ukulinyazwa okulula nokopha
• ukopha okungavamile

Itholakala kanjani i-hemophilia A?

Udokotela wenza ukuxilongwa ngokulinganisa izinga lomsebenzi we-VIII kusampula yegazi lakho.

Uma kunomlando womndeni we-hemophilia, noma umama kungumthwali owaziwayo, izivivinyo zokuxilonga zingenziwa ngesikhathi sokukhulelwa. Lokhu kubizwa ngokuthi ukuxilongwa ngaphambi kokubeletha.

Yiziphi izinkinga ze-hemophilia A?

Ukopha okuphindaphindayo nokwedlulele kungaholela ezinkingeni, ikakhulukazi uma kungalashwa. Lokhu kufaka phakathi:

• i-anemia enamandla
• ukulimala ngokuhlanganyela
• ukopha okungaphakathi okujulile
• izimpawu zezinzwa eziphuma egazini ngaphakathi kobuchopho
• ukusabela komzimba ekunqandeni ukwelashwa kwe-factor

Ukuthola ukufakwa kwegazi elinikelwayo kukhulisa nengozi yokutheleleka, njenge-hepatitis. Kodwa-ke, kulezi zinsuku igazi elinikelwe lihlolwa kahle ngaphambi kokumpontshelwa.

Yelashwa kanjani i-hemophilia A?

Alikho ikhambi le-hemophilia A kanti labo abanesifo badinga ukwelashwa impilo yonke. Kunconywa ukuthi abantu bathole ukwelashwa esikhungweni esikhethekile sokwelashwa kwe-hemophilia (HTC) lapho kungenzeka khona. Ngaphezu kokwelashwa, ama-HTC ahlinzeka ngezinsizakusebenza nokuxhaswa.

Ukwelashwa kubandakanya ukufaka esikhundleni se-clotting factor elahlekile ngokufakwa igazi. I-Factor VIII ingatholakala eminikelweni yegazi, kepha manje ivame ukwenziwa ngokwenziwa ebhodini. Lokhu kubizwa ngokuthi yi-recombinant factor VIII.

Imvamisa yokwelashwa incike ebucayi besifo:

I-hemophilia emnene A

Labo abanezinhlobo eziphansi ze-hemophilia A bangadinga kuphela ukwelashwa okushintshayo ngemuva kwesiqephu sokopha. Lokhu kubizwa ngokuthi ukwelashwa okuncane noma okufunwayo. Ukufakwa kwehomoni eyaziwa ngokuthi i-desmopressin (DDAVP) kungasiza ekuvuseleleni umzimba ukuthi ukhulule into yokunqanda ukunqanda isiqephu esopha. Imithi eyaziwa ngokuthi i-fibrin sealants nayo ingasetshenziswa endaweni yesilonda ukusiza ukukhuthaza ukuphulukiswa.

I-hemophilia enamandla A

Abantu abane-hemophilia A enamandla bangathola ukumunwa ngezikhathi ezithile kwe-factor VIII ukusiza ukuvimbela iziqephu zokopha nezinkinga. Lokhu kubizwa ngokuthi yi-prophylactic therapy. Lezi ziguli zingabuye ziqeqeshelwe ukunikeza ukumnika ekhaya. Amacala abucayi angadinga ukwelashwa ngokomzimba ukunciphisa izinhlungu ezibangelwa ukopha emajoyintini. Ezimweni ezinzima, kudingeka ukuhlinzwa.

Uyini umbono?

Umbono uncike ekutheni umuntu uthola ukwelashwa okufanele noma cha. Abantu abaningi abane-hemophilia A bazofa ngaphambi kokuba babe badala uma bengakutholi ukunakekelwa okwanele. Kodwa-ke, ngokwelashwa okufanele, kubikezelwa isikhathi sokuphila esijwayelekile.