Ngaba uyayazi iHemophilia B? Masiyihlalutye!

Ngaba wakha waphawula ukuba abanye abantu bayaqhubeka nokopha nokuba linxeba elincinci? Okanye wakha waphawula ukuba ngaphandle kwesizathu, amalungu omzimba wakho ajika abe luhlaza okwesibhakabhaka kwaye anemigca yegazi? Esinye sezizathu zezi zinto sinokuba yimeko esiza kuthetha ngayo namhlanje ebizwa ngokuba yiHemophilia B. Ungakhathazeki, siza kuthetha ngayo ngendlela elula onokuyiqonda.

Yintoni iHemophilia B?

Ngamafutshane, i-hemophilia B sisifo sokopha esizuzwa njengelifa. Senzeka xa kukho utshintsho kwijini olunceda ukujiya kwegazi. Abantu abane-hemophilia B banezinga eliphantsi le-factor IX (ekwaziwa ngokuba yi-factor 9, F9, FIX), iproteni ephambili enceda ukujiya kwegazi. Ukuba ayinyangwa, le meko inokuba yingozi ebomini. Iindaba ezimnandi zezokuba oogqirha bayayinyanga ngokutshintsha i-factor 9. Unyango olutsha, olufana nonyango lwe-gene, nalo luyaphandwa.

Le meko ichaphazela njani umzimba wakho?

Njengezinye iintlobo ze-hemophilia, abantu abane-hemophilia B bopha igazi elininzi kwaye ixesha elide kunesiqhelo xa benzakele, betyandwa, okanye bekhutshwa amazinyo. Le meko ichaphazela kakhulu amadoda, kodwa inokuchaphazela nabasetyhini.

Oogqirha babeka i-hemophilia njengethambileyo , ephakathi, kunye neqatha . Abantu abane-hemophilia B enzima banokuphuma igazi emalungwini abo. Oku kubuhlungu kakhulu, kwaye ngokuhamba kwexesha, kunokukhokelela kwiimeko ezifana ne-arthritis. Abanye abantu bafuna utyando ukuze kususwe amalungu awonakeleyo aze afakwe endaweni yawo. Banokuphuma igazi ebuchotsheni babo, nto leyo enokuba yingozi ebomini.

Ixhaphake kangakanani i-hemophilia B?

Ngokwezibalo eMelika, malunga namadoda ama-4 kwayi-100,000 ane-hemophilia B. Nabafazi bayayifumana, kodwa kunzima ukutsho ukuba bangaphi kanye kanye. Kuba nangona beneempawu ezifana nokuya exesheni kakhulu, abantu abaninzi abacingi ukuba inxulumene ne-hemophilia.

Uyazi ukuba yintoni umahluko phakathi kwe-hemophilia A kunye ne-B?

I-Hemophilia A kunye ne-B zombini ziingxaki zokopha ezizuzwe njengelifa. Nangona iimpawu zifana kakhulu, utshintsho lwezakhi zofuzo oluzibangelayo lwahlukile. Izifundo zibonise ukuba iimpawu ze-hemophilia B zisenokuba zincinci kancinci kunezo ze-hemophilia A. Oku kuthetha ukuba i-hemophilia B nayo yimeko enzima, kodwa abantu abanayo banokuba neengxaki ezimbalwa zokopha kakhulu. Nazi ezinye izinto ezahlukileyo:

• Izifundo zibonisa ukuba abantu abane-hemophilia B baphuma igazi elincinci emalungeni (hemathroses) kwaye banomngcipheko omncinci emalungeni.
• Ukopha okuzenzekelayo akuqhelekanga kubantu abane-hemophilia B.
• Ngamanye amaxesha, ngexesha lonyango lwe-hemophilia, umzimba uvelisa ii-antibodies eziphazamisana nonyango. Nangona kunjalo, abantu abane-hemophilia B abanakukwazi ukuba nezi ngxaki.

Kutheni le nto ngaphambili yayibizwa ngokuba 'yisifo sikaKhisimusi'?

Eli libali elinomdla kakhulu. Kangangeminyaka engaphezu kwe-100, oogqirha babecinga ukuba kukho uhlobo olunye lwe-hemophilia. Kodwa ngo-1952, umphandi wasebenzisa i-plasma yegazi evela kubantu abasixhenxe abane-hemophilia (omnye ogama lingu-'Christmas') ukunyanga abanye abantu abane-hemophilia. Okumangalisayo kukuba, unyango lwasebenza! Kulapho abaphandi baqonda khona ukuba uMnu. Christmas wayenohlobo olwahlukileyo lwe-hemophilia, oko kukuthi, yayibangelwa kukuguquka kwezakhi zofuzo okwahlukileyo. Ngoko ke babiza olu hlobo lwesibini lwe-hemophilia ngokuthi 'yiChristmas factor' okanye 'yiChristmas disease'. Kamva yabizwa ngokuba yi-hemophilia B.

Yintoni ebangela i-hemophilia B?

Njengoko bekutshiwo ngaphambili, i-hemophilia B sisifo sokopha ngokwemfuza. Ukuba une-hemophilia B, oko kuthetha ukuba uzuze i-gene engaqhelekanga echaphazela ubungakanani be-factor 9. Ngokwesiqhelo, kukho i-gene ebizwa ngokuba yi-F9, ekuxelela indlela yokwenza i-factor 9. I-Hemophilia B yenzeka xa le gene ye-F9 itshintsha, idala i-gene engaqhelekanga enciphisa amanqanaba e-factor 9, okanye iyisuse ngokupheleleyo i-factor 9. Amaxesha amaninzi, amakhwenkwe afumana i-hemophilia B ukuba oomama babo ngabathwali besifo.

Nantsi indlela eyenzeka ngayo:

• Sonke sifumana ii-chromosomes ezimbini ze-X kumama wethu, i-chromosome enye ye-X kunye ne-chromosome enye ye-Y kutata wethu.
• Ukuba umfazi une-gene ye-F9 engaqhelekanga kwenye yee-chromosomes zakhe ze-X, uya kuba ngumthwali we-hemophilia B, kodwa akayi kubonisa zimpawu. Oku kungenxa yokuba une-gene ye-F9 eqhelekileyo kwenye i-chromosome yakhe ye-X.
• Lo mfazi unokudlulisela i-chromosome X ene-gene engaqhelekanga ye-F9 kunyana wakhe. Ekubeni oonyana bene-chromosome enye ye-X kuphela, baya kuba ne-hemophilia B.

Ngamanye amaxesha, utshintsho oluzenzekelayo aluzuzwa njengelifa kumama ukuya kunyana.I-Hemophilia B inokubangelwa yinkqubo ebizwa ngokuba yi-involution. Oku kwenzeka xa iqanda kunye nesidoda zidityaniswe ukuze zenze i-embryo, ethi emva koko yahlulwe ize iqale ukuvelisa iiseli ezintsha. Ezi seli zintsha zithwala iikopi zeejini ezazikwiseli yokuqala. Ngoko ke, ngamanye amaxesha iimpazamo, okanye utshintsho, zinokwenzeka xa ezi jini zikopishwa. Ukuba kwenzeka impazamo xa i-gene ye-F9 ikopishwa, umntwana wakho unokuba ne-hemophilia B okanye abe ngumthwali we-hemophilia B. (Ababhali-mbali kunye nabaphandi bezonyango bakholelwa ukuba oku kwenzeka kuKumkanikazi uVictoria waseNgilani. Nangona kungekho mntu kusapho lwakhe owayene-hemophilia, wayene-hemophilia. Wadlulisela esi sifo kubantwana bakhe. Xa abo bantwana batshata kwiintsapho zasebukhosini zaseSpain naseRashiya, nabantwana babo nabo bafumana esi sifo. Kamva sachongwa njenge-hemophilia B.)

Zithini iimpawu ze-hemophilia B?

Sele sitshilo ukuba iimpawu ze-hemophilia B zihlelwa njengezincinci, eziphakathi, nezinzima. Oogqirha bazihlela ngokwamanqanaba e-factor 9 egazini.

I-hemophilia ebuthathaka B

Abantu abanamanqanaba e-9 phakathi kwe-6% kunye ne-49% bane-hemophilia B encinci. Iimpawu azincinci. Ngamanye amaxesha, abantu abane-hemophilia B encinci bafunyanwa sele bebadala, xa belungiselela utyando, xa beza kuba nomntwana, emva kokwenzakala okukhulu, okanye, kwimeko yabasetyhini, xa benyangwa ukopha kakhulu exesheni.

I-hemophilia B ephakathi

Abantu abanamanqanaba e-9 aphakathi kwe-1% kunye ne-5% bane-hemophilia B encinci. Iimpawu nazo azincinci. Abantwana abanale meko badla ngokuqala ukubonisa iimpawu xa bekwiinyanga ezili-18 ubudala.

Aba bantwana banokuba neempawu ezifana nezi:

• Imivumbo: Ziyakruquka kwaye ziyakruquka lula kakhulu.
• Ukopha okungaqhelekanga: Ukuba utyando, inxeba elophayo, okanye ukukhutshwa kwezinyo, ungopha kakhulu kwaye ixesha elide kunesiqhelo.
• Ukopha okuzenzekelayo: Amaxesha amaninzi, ukopha kunokuqala ngaphandle kwesizathu esicacileyo.

I-hemophilia B enzulu

Abantu abanamanqanaba e-9 angaphantsi kwe-1% bane-hemophilia B embi kakhulu. Iimpawu zinzima kakhulu. Abanye abantwana banokuqala ukopha xa bezalwa, emva nje kokuzalwa, okanye emva kokwaluka. Abanye abantwana basenokungabonakalisi zimpawu de kube ziinyanga ezimbalwa emva kokuzalwa. Iimpawu eziqhelekileyo ziquka:

• Ukopha: Iintsana ezincinci kunye nabantwana abancinci basenokuphuma igazi emlonyeni wabo ukuba into encinci, efana nethoyi, ingena emlonyeni wabo.
• Amaqhuma avuvukileyo entloko: Ukuba usana oluncinci lubetha intloko yalo ndaweni ithile, lunokukhula amaqhuma afana namaqanda eehansi.
• Ukukhala rhoqo, ukungazinzi, okanye ukwala ukukhasa okanye ukuhamba:Oku kunokwenzeka ukuba umntwana uphuma igazi kwisihlunu okanye kwilungu lomzimba wakhe. Basenokubonakala beluhlaza okwesibhakabhaka kwaye bedumbile kwezinye iindawo. Basenokuziva beshushu xa bechukunyiswa kwaye umntwana usenokuba neentlungu.
• IiHematomas: I-hematoma lihlwili legazi eliqokelelana phantsi kolusu. Usana lunokuba ne-hematoma emva kokufakwa inaliti.
• Ubunzima bokuphefumla: Ngamanye amaxesha, ulwimi lomntwana lunokudumba ngenxa yokopha kwaye luvale indlela yomoya.

Oogqirha bayibona njani le nto?

Oogqirha baxilonga i-hemophilia B ngokwenza uvavanyo lomzimba, bekhangela iimpawu ezifana nokudumba nokudumba kwamalungu, baze babuze ukuba kukho nabani na kusapho one-hemophilia okanye ezinye iingxaki zegazi.

Ukongeza, kwenziwa ezi vavanyo zilandelayo:

• Ubalo lweGazi olupheleleyo (CBC): Oku kujonga iintlobo zeeseli egazini kunye namanani azo.
• Uvavanyo lweProthrombin Time (PT): Olu vavanyo luvavanya ukuba igazi lakho likhawuleza kangakanani ukujiya.
• Uvavanyo lweXesha le-Activated Partial Thromboplastin: Olu luvavanyo olulinganisa ixesha elithathayo ukuba igazi liqhekeke.
• Uvavanyo lweFibrinogen: Uvavanyo olulinganisa ubungakanani beproteni ebizwa ngokuba yi-fibrinogen, enceda ukujiya kwegazi.
• Uvavanyo lwe-clotting factor: Oku kunceda ekufumaneni uhlobo oluchanekileyo lwe-hemophilia kunye nobunzima besifo.

Zithini iindlela zonyango zoku?

Oogqirha badla ngokunyanga i-hemophilia B ngonyango lokutshintshwa kwezinto . Oku kuquka ukufaka i-concentrated factor 9 emthanjeni. Le concentrated factor 9 isebenza endaweni ye-missing factor, inceda ekuthinteleni ukopha kakhulu okanye ukulawula ukopha xa kusenzeka.

Ngokwesiqhelo, abantu abane-hemophilia B engephi ukuya kwephakathi bafuna olu nyango kuphela xa kufuneka benze utyando. Nangona kunjalo, abantu abane-hemophilia B enzulu banokufuna unyango lokutshintshwa kwezinto rhoqo.

Ngaba kukho naziphi na iingxaki ezinokwenzeka ngexesha lonyango?

Ezinye iingxaki zinokwenzeka kubantu abasebenzisa olu nyango. Ezona ziphambili kukuphuhliswa kwemithi yokuthintela kunye nosulelo lwentsholongwane .

Izithinteli

Izithinteli ziyavela xa umzimba uyeka ukwamkela ukutshintshwa kwezinto njengenxalenye yegazi lawo eliqhelekileyo. Ezi zithinteli zithintela unyango lokutshintshwa kwezinto ukuba lungasebenzi kakuhle. Oku kwenza kube nzima kakhulu ukuyeka okanye ukunciphisa ukopha. Abantu abaneengxaki ezinkulu zokopha abafumana iidosi eziphezulu zonyango lwezinto banokuba nale ngxaki. Oogqirha bayayinyanga le ngxaki ngokusebenzisa ezinye izinto ezinokugqiba ukujiya kwegazi ngaphandle kokudlula i-factor 9.

Usulelo lwentsholongwane

Amaxesha amaninzi, usulelo lwentsholongwane olufana ne-hepatitis C lunokwenzeka xa kusetyenziswa izinto ezithatha indawo ye-factor, ezenziwe ngegazi elinikelweyo. Nangona kunjalo, ngeendlela zovavanyo zangoku, le ngozi iphantsi kakhulu.

Ngaba umngcipheko wokuba oku kwenzeke ungancitshiswa?

Ngenxa yokuba i-hemophilia B sisifo esizuzwe njengelifa, awunakuyithintela ukuba ingakhuli okanye idlulisele kubantwana bakho. Masifunde okungakumbi malunga nenkqubo yemfuza efunyanwa ngayo njengelifa:

• Ukuba ungumfazi kwaye une-gene ye-F9 engaqhelekanga kwenye yee-chromosomes zakho ze-X (oko kuthetha ukuba ungumthwali), abantwana bakho abangamakhwenkwe banethuba elingama-50% lokufumana i-hemophilia B, kwaye abantwana bakho abangamabhinqa banethuba elingama-50% lokuba ngabathwali.
• Iintombi zakho, ezizuza esi sizukulwana, zinokudlulisela i-hemophilia B koonyana bazo. Iintombi zazo zinokuba ngabathwali besifo.
• Oonyana bakho abane-hemophilia B banokudlulisela le chromosome kwiintombi zabo.
• Ukuba uyindoda kwaye une-hemophilia B, oonyana bakho abayi kuba nesi sifo. Kodwa zonke iintombi zakho ziya kuba ngabathwali be-chromosome ene-gene ye-F9 engaqhelekanga.

Ingcebiso ngemfuza ibaluleke kakhulu kule meko. Ukuba wena okanye umntu kusapho lwakho une-hemophilia, kungcono ukudibana nomcebisi ngemfuza ngaphambi kokuba nomntwana.

Ukuba ndikhulelwe, ndingafumanisa kwangaphambili ukuba umntwana wam unale meko?

Ewe, unako. Oogqirha bangathatha isampuli yegazi kwi-umbilical cord yakho baze bayivavanye ukuze babone izinto ezibangela ukujiya kwegazi. Ngale ndlela, wena kunye nabo ninokwazi kwangaphambili into eninokuyilindela xa nizala umntwana wenu kunye nento eninokuyenza ukuthintela iingxaki ezibangelwa kukopha.

Ukuba ndine-hemophilia B, ndimele ndilindele ntoni?

I-Hemophilia B sisifo esingapheliyo. Oogqirha abanakuyinyanga ngokupheleleyo. Nangona kunjalo, kukho unyango olunokuthintela okanye lunciphise iintlungu eziqatha zamalungu kunye nezinye iingxaki zempilo. Uninzi lwabantu abane-hemophilia B lunokugcina impilo entle ngonyango.

Abantu abane-hemophilia B enzima kakhulu kufuneka bafumane inaliti zokutshintshwa kwezinto rhoqo (iinfusions okanye inaliti) ukuze banyange iingxaki zokopha. Basenokuya kugqirha ukuze bafumane unyango, bafumane ilungu losapho okanye umntu obanyamekelayo abanike inaliti, okanye banokukwazi ukuyinika ngokwabo inaliti. Nangona kunjalo, abantu abane-hemophilia B enzima kakhulu bafuna unyango rhoqo ukuze bathintele ukopha kakhulu.

Basenokuba nezinye iimeko zonyango ezichaphazela impilo yabo iyonke kunye nobomi babo bonke. Umzekelo, abantu abaninzi abane-hemophilia B baneengxaki ezinkulu ngamadolo okanye ezinqeni zabo, ezifuna utyando lokususa amalungu onakeleyo aze afakwe amatsha endaweni yawo. Ukuba une-hemophilia B, buza ugqirha wakho ukuba ulindele ntoni. Nguye umntu ofanelekileyo ukukunika ulwazi olungcono kuba uyayazi imeko yakho kunye nempilo yakho iyonke.

Yintoni endimele ndiyazi ukuba umntwana wam unale meko?

Ukuba umntwana wakho une-hemophilia B engephi okanye ephakathi, kubalulekile ukwazisa ugqirha wakho ngale meko ukuze akwazi ukuthintela ukopha kakhulu ukuba umntwana wakho utyando okanye ukhutshwa izinyo. Nazi ezinye iingcebiso. Ugqirha wakho unokuba nezinye iingcebiso:

• Xa abantwana bakho besebancinci kakhulu, qinisekisa ukuba izitulo zabo eziphakamileyo kunye nezitulo zeemoto zinebhanti zokhuseleko ezifanelekileyo.
• Xa bekhula kancinci baze badlale nabanye abantwana, abanakekeli babo kunye nootitshala besikolo kufuneka bazi ukuba benze ntoni ukuba umntwana wenzakele ngengozi aze aqalise ukopha.
• Umntwana wakho kuya kufuneka ahlale kude nemisebenzi ethile, efana nemidlalo ebandakanya ukudibana kakhulu nabanye okanye amathuba okuwa.

Kuthekani ukuba umntwana wam une-hemophilia B embi kakhulu?

Abantwana abane-hemophilia B enzima baya kufuna unyango ubomi babo bonke - ukuthintela okanye ukunciphisa ukopha, okanye ukulawula iimpawu. Nazi ezinye zeengxaki onokujamelana nazo, kunye neengcebiso ezinokukunceda:

• Iintsana ezine-hemophilia B, xa zifunda ukuhamba, zinokuqala ukopha ukuba ziyawa okanye ziyaqhuma. Akunakwenzeka ukuthintela ukuwa konke konke, kodwa kungcono ukubeka izigqubuthelo zokukhusela kwiikona ezibukhali zefenitshala ekhaya.
• Njengoko umntwana wakho ekhula aze aqalise ukubaleka nokutsiba, thetha nogqirha wakho malunga nezixhobo zokhuseleko ezifana nesigcina-ntloko kunye neephedi zamadolo. Enyanisweni, bonke abantwana kufuneka banxibe isigcina-ntloko xa bekhwele ibhayisekile. Umntwana wakho unokufuna ukhuseleko olongezelelweyo ukuze aphephe ukungqubana okunokubangela ukopha.
• Umntwana wakho kuya kufuneka afumane unyango rhoqo ukuze ayeke ukopha. Usenokuziva enomsindo kwaye edanile ngenxa yokungakwazi ukuchitha ixesha nabahlobo bakhe kunye nokungayi emsebenzini wesikolo xa kufuneka aye kunyango.
• Umntwana one-hemophilia uyazi ukuba ootitshala bakhe nabanye bayayazi imeko yakhe. Usenokungakhululeki xa ootitshala nabanye esikolweni bezama ukumnceda kodwa bamphathe ngendlela eyahlukileyo.
• Abantwana abadala kunye nabantu abaselula banokufuna uncedo lokujongana neemvakalelo zabo kunye nokujongana nezenzo zabanye. Ukuba umntwana wakho ukwimeko efanayo, thetha nogqirha wakho malunga neenkqubo okanye amaqela enkxaso kubantu abaselula.

Ndine-hemophilia B. Ndingazinyamekela njani?

Ukuphila ne-hemophilia B kuthetha ukuthatha amanyathelo ongezelelweyo okukhusela impilo yakho iyonke, ngelixa unyamekela unyango lwakho. Nazi ezinye iingcebiso:

• Zikhusele kwiintsholongwane: Buza ugqirha wakho malunga nokuba zeziphi izitofu zokugonya ezifanelekileyo kuwe.
• Gcina ubunzima obusempilweni: Ukuba unengxaki yokuhambahamba ngenxa yokopha ngaphakathi kunye nomonakalo wamalungu, ukulawula ubunzima bakho kunokukunceda.
• Yenza umthambo rhoqo: Usenokoyika ukwenzakala ngelixa usenza umthambo. Thetha nogqirha wakho ngeendlela zokunciphisa umngcipheko wokopha ngelixa usenza umthambo.
• Lawula uxinzelelo lwakho: I-Hemophilia B yimeko ehlala ixesha elide. Kungathatha umgudu ongakumbi ukuyilinganisela kunye noxanduva lwakho losapho kunye nomsebenzi.
• Ziphephe ezinye iintlungu: Ukuba une-hemophilia B, akufanele usebenzise i-aspirin okanye i-ibuprofen. Ezi ntlungu ziphazamisana nokujiya kwegazi.

Ufanele ubone ugqirha wakho ukuze ufumane unyango olucwangcisiweyo kwaye nanini na xa unezinye iimpawu, ezinje ngokopha okungaqhelekanga okanye intlungu eqatha yamalungu.

Kufuneka uye nini kunyango olungxamisekileyo?

Ukuba wenzakele entloko , kufuneka ufune uncedo lwezonyango ngokukhawuleza. Ezi mpawu zinokubonisa ukuba unesifo sokopha engqondweni (intracranial hemorrhage):

• Intloko ebuhlungu.
• Ubuthathaka.
• Isicaphucaphu nokuhlanza.
• Ukuba ndindisholo okanye ukukhubazeka.

Ukuba awukwazi ukuyeka ukopha ngenxa yenxeba, okanye ukuba uqala ukopha ngaphandle kwesizathu, bona ugqirha wakho okanye uye kwigumbi likaxakeka ngokukhawuleza.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Hemophilia B lolunye uhlobo olungaqhelekanga lwesifo esingaqhelekanga. Njenge-hemophilia A, i-hemophilia B sisifo sokopha esizuzwe njengelifa. Nangona uphando lubonisa ukuba abantu abane-hemophilia B banokuba neempawu ezingezizo eziqatha kunabo bane-hemophilia A, i-hemophilia B isengumbandela obangela iingxaki ezininzi zonyango, indlela yokuphila, kunye nengqondo.

Abafazi abathwele esi sifo basenokuba nexhala lokuba abantwana babo baza kusifumana njengelifa. Abazali bomntwana one-hemophilia B basenokuba nexhala lokukhusela umntwana wabo kwingozi eyenzekileyo. Kamva, basenokufuneka bancede umntwana wabo okhulayo afunde ukuhlala ne-hemophilia B. Abantu abane-hemophilia B enzima banokufuna unyango lobomi bonke ukuthintela ukopha kakhulu.

Kodwa likho ithemba! Abaphandi baphanda unyango olutsha, olufana nokutshintshwa kwezakhi zofuzo kunye nonyango lwezakhi zofuzo. Oku kunokwenza umahluko omkhulu kwindlela ephathwa ngayo i-hemophilia B enzima. Ukuba wena okanye umntwana wakho unale meko, buza ugqirha wakho malunga novavanyo lweklinikhi olunokuba lufanelekile kuwe. Khumbula, ngeengcebiso zonyango ezifanelekileyo kunye nonyango, ungaphila ubomi obuphumelelayo nobunempilo kunye ne-hemophilia B.

I- Hemophilia B, ukopha, izifo zemfuza, ukujiya kwegazi, iFactor IX, izifo ezizuzwe njengelifa, isifo seKrismesi