Ukuthi yini i-Albinism? Izimpawu, Izimbangela, & Ukwelashwa

I-Albinism iyimo lemfundo elidluliselwa ngezakhiwo, lapho umzimba wakho ukhulisa i-melanin encane kakhulu, i-pigment enikeza umbala kwisihlangu sakho, izinwele, kanye namehlo. Lokhu kwenzeka ngenxa yokushintsha kwezakhiwo ezilawula ukukhiqizwa kwe-melanin, kuchaphazela abantu bazo zonke izizwe emhlabeni jikelele.

Nakuba i-albinism ivame ukungaqondwa, ilula nje indlela ehlukile umzimba wakho uqapha ngayo i-pigment. Abantu abaningi abane-albinism baphila impilo egcwele, enempilo ngokunakekelwa okuqondile nokuvikelwa elangeni.

Yini i-Albinism?

I-Albinism ivela lapho umzimba wakho ungakwazi ukwenza i-melanin eyanele, i-pigment yemvelo ebonakala ngokubala isihlangu sakho, izinwele, kanye namehlo. Cabanga nge-melanin njengesikrini sakho somzimba esakhiwe ngaphakathi kanye nomkhiqizi wombala.

Leli dimo lichaphazela cishe umuntu o-1 ku-17,000 kuya ku-20,000 emhlabeni jikelele. Akuyona i-disease oyibamba noma oyithuthukisa ngokuhamba kwesikhathi. Kunalokho, uzalwa nayo ngenxa yokushintsha okuthile kwezakhiwo ezidluliselwa kubazali bakho.

Abantu abane-albinism bavame ukuba nesikhumba esilula kakhulu, izinwele ezimhlophe noma ezimhlophe eziluhlaza okwesundu, kanye namehlo alula. Noma kunjalo, inani le-pigment lingahluka kakhulu kumuntu nomuntu, ngisho nasemhlabeni omnye.

Ziyini Izinhlobo ze-Albinism?

Kunezinhlobo eziningi ze-albinism, ngayinye ichaphazela ukukhiqizwa kwe-pigment ngendlela ehlukile. Izigaba ezimbili eziyinhloko yi-oculocutaneous albinism ne-ocular albinism.

I-Oculocutaneous albinism (OCA) ichaphazela isikhumba sakho, izinwele, kanye namehlo. Lolu uhlobo oluvamile kakhulu, olunezinhlobo ezine eziyinhloko ezinombhalo OCA1 kuya ku-OCA4. Uhlangothi ngalunye luhilela izakhiwo ezahlukile futhi lukhiqiza amazinga ahlukahlukene e-pigment.

I-OCA1 ngokuvamile iholela ekungabikho kokukhiqizwa kwe-melanin, okuholela ezinweleni ezimhlophe, isikhumba esilula kakhulu, kanye namehlo aluhlaza okwesibhakabhaka. I-OCA2, evame kakhulu kubantu base-Afrika, ivumela ukukhiqizwa kwe-pigment ethile, ngakho izinwele zingaba ziluhlu okwesundu noma eziluhlaza okwesundu.

I-Ocular albinism ngokuyinhloko ichaphazela amehlo akho ngenkathi ishiya umbala wesikhumba nezinwele uvamile. Lolu hlobo luluhlu kakhulu futhi ngokuyinhloko luchaphazela amadoda ngoba luhlotshaniswa ne-chromosome ye-X.

Ezinye izinhlobo ezimbalwa zihlanganisa i-Hermansky-Pudlak syndrome ne-Chediak-Higashi syndrome. Lezi zihilela izinhlungu ezengeziwe zempilo ngaphezu kwezimpawu ze-albinism ezivamile futhi zidinga ukunakekelwa kwezokwelapha okukhethekile.

Ziyini Izimpawu ze-Albinism?

Izimpawu ezibonakala kakhulu ze-albinism zihilela ukushintsha kwe-pigmentation nokubona. Lezi zimpawu ngokuvamile zibonakala kusukela ekuzalweni noma ebuntwaneni obuqalayo.

Nazi izimpawu ezivamile ongaziqaphela:

• Isikumba esilula kakhulu esishisa kalula elangeni
• Izinwele ezimhlophe, eziluhlaza okwesundu okukhanyayo, noma eziluhlaza okwesundu okukhanyayo
• Amelo aluhlaza okwesibhakabhaka, aluhlaza okwe-grey, noma aluhlaza okwesundu okukhanyayo
• Amelo abonakala ebomvu noma epinki ekukhanyeni okuthile
• Ukukhanya okukhulu
• Ukushintshashintsha okusheshayo, okungazibonakalisi kwamehlo (nystagmus)
• Amelo angalandeli ndawonye kahle
• Ukubona okude, ukubona okude, noma i-astigmatism

Izinkinga zobono zivame kakhulu ngoba i-melanin idlala indima ebalulekile ekuthuthukiseni kwamehlo okuqondile. Ukungabikho kwe-pigment kuchaphazela indlela i-retina yakho ethuthuka ngayo nendlela ubuchopho bakho buqapha ngayo ulwazi lokubona.

Kubalulekile ukuqonda ukuthi izimpawu zingabahlukahluka kakhulu. Abanye abantu bane-pigment eningi kunabanye, okuholela ezinweleni ezimnyama noma ezinye izimpawu kunalokho ongalindela nge-albinism.

Yini ebangela i-Albinism?

I-Albinism ibangelwa ukushintsha kwezakhiwo ezithile ezilawula ukukhiqizwa kwe-melanin. Lezi zinguquko zezakhiwo zidluliselwa kubazali bakho, okusho ukuthi uzalwa naleli dimo.

Umzimba wakho udinga izakhiwo eziningi ezahlukene ezisebenza ndawonye ukuze wenze i-melanin ngokufanele. Uma enye noma ngaphezulu kwezakhiwo ezinjalo inenguquko noma ukuguqulwa, kuya kuphazamisa inqubo evamile yokwenza i-pigment.

Izinhlobo eziningi ze-albinism zilandela iphethini ye-autosomal recessive. Lokhu kusho ukuthi udinga ukudluliselwa isakhiwo esishintshile kubazali bobabili ukuze ube ne-albinism. Uma uthola isakhiwo esishintshile esisodwa kuphela, ungumthwali kodwa ngeke ube ne-albinism wena.

Izakhiwo ezivame ukubandakanyeka zihlanganisa i-TYR, i-OCA2, i-TYRP1, ne-SLC45A2. Isakhiwo ngasinye silawula isinyathelo esihlukile ekukhiqizweni kwe-melanin, okuchaza ukuthi kungani kunezinhlobo ezahlukene ze-albinism ezinokubonakala okuhlukahlukene.

I-Ocular albinism ihlukile ngoba ixhunyaniswe ne-X, okusho ukuthi ukushintsha kwesakhiwo kuse-chromosome ye-X. Kungakho ngokuyinhloko ichaphazela amadoda, ana-chromosome eyodwa ye-X kuphela.

Ziyini Izici Zengozi ze-Albinism?

Isici esiyinhloko sengozi ye-albinism ukuba nabazali abaphethe izinguquko zezakhiwo ezihlotshaniswa naleli dimo. Njengoba i-albinism idluliselwa ngezakhiwo, umlando womndeni uyisici esiyinhloko.

Uma bobabili abazali bangabathwali besakhiwo esifanayo se-albinism, kunenani le-25% ngokukhulelwa ngakunye lokuthi ingane yabo izoba ne-albinism. Abazali abangabathwali ngokuvamile banokubala okuvamile kwabo.

Ezinye izigaba zabantu zinezilinganiso eziphezulu zezinhlobo ezithile ze-albinism. Isibonelo, i-OCA2 ivame kakhulu kubantu base-Afrika, ngenkathi i-OCA1 isabalale ngokulinganayo ezinhlotsheni ezahlukene zabantu.

Umshado wabantu abahlobene, lapho abazali bahlobene, ungandisa ingozi ngoba bobabili abazali banamathuba amaningi okuba nabaguquko efanayo yezakhiwo. Noma kunjalo, i-albinism ingase ibonakale kunoma yimuphi umndeni, kungakhathaliseki ubuzwe noma umlando womndeni.

Nini Okufanele Ubone Udokotela Nge-Albinism?

Kufanele ubheke udokotela uma uqaphela izimpawu ze-albinism kuwe noma engwaneni yakho. Ukuxilongwa kwasekuqaleni nokunakekelwa kungasiza ukuvimbela izinhlungu futhi kuqinisekise ukuthuthuka okuqondile kokubona.

Hlela i-appointment uma uqaphela isikhumba esilula kakhulu nezinwele, amehlo alula, noma izinkinga zobono njengokukhanya okukhulu noma ukushintshashintsha kwamehlo okungazibonakalisi. Lezi zimpawu ndawonye zivame ukukhombisa i-albinism.

Ukuhlolwa kwamehlo okuvamile kubalulekile kubantu abane-albinism, ngokukhethekile okuqala ebuntwaneni. I-ophthalmologist ingalandelela ukuthuthuka kokubona futhi incoma ukwelashwa ukuze ilungise ukubona.

Kufanele futhi ubone i-dermatologist ukuze uthuthukise uhlelo oluphelele lokuvikelwa kwesikhumba. Abantu abane-albinism banenani elikhulu kakhulu lokulimala kwesikhumba kanye nomdlavuza wesikhumba ngaphandle kwezinyathelo ezifanele.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uqaphela noma yikuphi ukushintsha emaqeleni noma ezindaweni zesikhumba, amaqhubu ahlala isikhathi eside angapholi, noma noma yikuphi ukukhula okungavamile kwesikhumba. Lokhu kungaba izimpawu zomdlavuza wesikhumba, ovame kakhulu kubantu abane-albinism.

Ziyini izinhlungu ezingaba khona ze-Albinism?

Nakuba i-albinism ngokwayo ingayingozi eyingozi, ingabangela izinhlungu eziningi ezidinga ukuphathwa okuqhubekayo. Ukukhathazeka okukhulu kuhilela izinkinga zobono kanye nengozi enkulu yomdlavuza wesikhumba.

Nazi izinhlungu eziyinhloko ezingathuthuka:

• Ukubona okubi kakhulu noma ubuvila bomthetho
• Ukungena okukhulu komdlavuza wesikhumba, kuhlanganise i-melanoma
• Ukushisa okukhulu kwelanga nokulimala kwesikhumba
• Izinselele zokuxhumana nomphakathi nezingqondo ngenxa yokwehluka kwesikhumba
• Ubunzima bokufunda obuhambisana nezinkinga zobono
• Ukunciphisa ukubona okujulile nokulandelana kwamehlo

Izinkinga zobono ziyinselele ngokukhethekile ngoba azikwazi ukulungiswa ngokuphelele ngama-glasses noma ama-contact lenses. Abantu abaningi abane-albinism banokubona okuphansi futhi bangase bafaneleke njengabantu ababona ngokomthetho.

Ingozi yomdlavuza wesikhumba inkulu kakhulu ngoba i-melanin ngokuvamile ivikela isikhumba sakho ekukhanyeni okubi kwe-UV. Ngaphandle kwalokhu kuvikelwa, ngisho nokukhanya okufushane kwelanga kungabangela ukulimala.

Ezinye izinhlobo ezimbalwa ze-albinism, njenge-Hermansky-Pudlak syndrome, zingabangela izinhlungu ezengeziwe njengokopha kwegazi, izinkinga zephunga, noma ukuvuvukala kwesisu. Lezi zidinga ukuphathwa kwezokwelapha okukhethekile ekuphileni konke.

I-Albinism Ixilongwa Kanjani?

I-Albinism ngokuvamile ixilongwa ngokubonakala komzimba nomlando womndeni. Udokotela wakho uzohlola isikhumba sakho, izinwele, kanye namehlo ukuze ubone izimpawu ezibonakalayo zokunciphisa i-pigmentation.

Ukuhlolwa kwamehlo okuhleliwe kubalulekile ekuxilongweni. I-ophthalmologist izobona ukushintsha okuthile e-retina yakho nase-optic nerve okuvela nge-albinism, njenge-foveal hypoplasia noma ukungabi kahle kwe-optic nerve fibers.

Ukuhlolwa kwezakhiwo kungaqinisekisa ukuxilongwa futhi kuqonde uhlobo oluthile lwe-albinism. Lokhu kuhilela ukuhlolwa okulula kwegazi olufuna ukushintsha kwezakhiwo ezaziwa ngokubangela i-albinism.

Udokotela wakho angase futhi enze ukuhlolwa okuqhubekayo ukuze akhiphe ezinye izimo. Lokhu kungase kuhlanganise ukuhlola ukubona kwakho, ukuhlola isikhumba sakho ngaphansi kwezinkanyiso ezikhethekile, noma ukuhlola ukopha kwegazi uma kukhona izinhlobo ezimbalwa ezithile ezithathwa njengokungabaza.

Ukuhlolwa kwangaphambi kokuzalwa kuyatholakala uma bobabili abazali baziwa njengabathwali. Lokhu kungenziwa nge-amniocentesis noma i-chorionic villus sampling ngesikhathi sokukhulelwa.

Ukuphathwa kwe-Albinism Kuyini?

Alukho ukwelashwa kwe-albinism, kodwa izindlela ezahlukene zokwelapha zingasiza ekuqondeni izimpawu nokuvimbela izinhlungu. Ukugxila kukuvikela ukubona kwakho nesikhumba sakho ngenkathi usekela ikhwalithi yakho yempilo.

Ukukhathalela amehlo kuyinto ebaluleke kakhulu. Udokotela wakho wamehlo angase ancome ama-glasses akhethekile, ama-contact lenses, noma izinto zokusiza ukubona okuphansi ukuze akusize ubone kangcono. Abanye abantu bazuza ngokuhlinzwa ukuze balungise izinkinga zamasondo amehlo.

Ukuvikelwa kwesikhumba kubaluleke kakhulu. Lokhu kusho ukusebenzisa i-sunscreen ebanzi ye-spectrum ene-SPF 30 noma ngaphezulu, ukugqoka izingubo ezivikela, nokuqeda amahora aphezulu elangeni uma kungenzeka.

Nazi izindlela eziyinhloko zokwelapha:

• Ama-glasses noma ama-contact lenses okulungisa ukubona
• Izinto zokusiza ukubona okuphansi njenge-magnifiers noma isofthiwe ekhethekile yekhompyutha
• Ukuhlinzwa kwezinkinga zamasondo amehlo noma i-nystagmus
• Ukuhlolwa okuvamile kwe-dermatology ukuhlola umdlavuza wesikhumba
• Ukubonisana noma amaqembu wokusekela ukuze uthole impilo engqondweni
• Ukufundiswa kokufundisa ngezidingo zokufunda ezihlobene nokubona

Ezinye izindlela zokwelapha ezintsha zihlolwa, kuhlanganise ne-gene therapy kanye nezinambuzane ezingasiza ekukhiqizeni i-melanin eningi. Noma kunjalo, lezi zihlolwa futhi azitholakali kabanzi.

Unganakekela Kanjani Ekhaya Nge-Albinism?

Ukuphatha i-albinism ekhaya kugxila ekuvikelweni kwelanga, ekusekweni kokubona, nasekugcineni impilo yakho engqondweni. Imikhuba yansuku zonke yenza umehluko omkhulu ekuvimbeleni izinhlungu.

Ukuvikelwa kwelanga kufanele kube yingxenye yomkhuba wakho wansuku zonke, ngisho nasezinsukwini ezinamvula. Faka i-sunscreen imizuzu engama-30 ngaphambi kokuphuma ngaphandle futhi uyibeke kabusha njalo emahoreni amabili. Gqoka iziqalo ezibanzi, izingubo ezinde, nama-sunglasses noma nini lapho kungenzeka.

Dala indawo ekulula ukubona kuyo ekhaya ngokuqinisekisa ukukhanya okuhle kokufunda nomsebenzi oseduze. Cabanga ngokusebenzisa izincwadi ezinkulu, izinto ezihambisanayo, noma izinto zokukhulisa uma kudingeka.

Ukuhlola kwesikhumba okuvamile kubalulekile ekutholeni noma yikuphi ukushintsha kwasekuqaleni. Hlola isikhumba sakho njalo ngenyanga ukuze ubone amaqeleni amasha, ukushintsha ezindaweni ezikhona, noma amaqhubu angapholi.

Hlala uxhumene namaqembu wokusekela noma imiphakathi e-online yabantu abane-albinism. Ukwabelana ngamava nezeluleko nabanye abantu abaqonda kungaba usizo kakhulu kokubili ngezeluleko eziwusizo kanye nokusekela ngokomzwelo.

I-Albinism Ingavimbeka Kanjani?

I-Albinism ayikwazi ukuvimbeka njengoba iyimo lemfundo elidluliselwa ngezakhiwo ozalwa nalo. Noma kunjalo, ukubonisana kwezakhiwo kungasiza imindeni ukuqonda ingozi yabo futhi enze izinqumo eziqondile ngokuhlela umndeni.

Uma une-albinism noma ungumthwali, ukubonisana kwezakhiwo kungachaza amathuba okudlulisela leli dimo kubantwana bakho. Umqondisi wezakhiwo angakusiza uqonde ama-patterns okudluliselwa kanye nezinketho zokuhlolwa ezitholakalayo.

Ukuhlolwa kwangaphambi kokuzalwa kuyatholakala kubantu abashadile abangabathwali bobabili futhi bafuna ukwazi ukuthi ingane yabo izoba ne-albinism. Ulwazi lolu lungakusiza ukulungiselela izidingo ezikhethekile zengane yakho.

Nakuba ungakwazi ukuvimbela i-albinism ngokwayo, ungavimbela ngokuqinisekile izinhlungu zayo eziningi ngokunakekelwa okuqondile nokuvikelwa ekuphileni konke.

Kufanele Uzilungiselele Kanjani I-Appointment Yakho Yedokotela?

Ukulungiselela i-appointment yakho yedokotela kusiza ukuqinisekisa ukuthi uthola ukunakekelwa okuhleliwe okukhulu ngangokunokwenzeka. Letha uhlu lwezimpawu zakho zonke, imithi, nemibuzo ofuna ukuyixoxa.

Bhala umlando womndeni wakho, ikakhulukazi noma yimiphi izihlobo ezine-albinism, izinkinga zobono, noma ukubala okungavamile. Ulwazi lolu lusiza udokotela wakho ukuqonda uhlobo lwakho oluthile nezici zengozi.

Letha uhlu lwemithi yakho yamanje, izithasiselo, kanye nanoma yiziphi izinto zokusiza ukubona ozisebenzisayo. Futhi, qaphela noma yikuphi ukushintsha kwesikhumba noma izimpawu ezikhathazayo oziqaphele muva nje.

Cabanga ngokuletha ilungu lomndeni noma umngani wokusekela, ikakhulukazi uma uxoxa ngokuhlolwa kwezakhiwo noma ukucwaninga komndeni. Bangakusiza ukukhumbula ulwazi olubalulekile oluxoxwe ngesikhathi se-appointment.

Lungiselela imibuzo mayelana nokuphathwa kwansuku zonke, amasu okuvikelwa kwelanga, izinto zokusiza ukubona, nanoma yikuphi ukukhathazeka ngezinhlungu. Unganqikazi ukubuza ngezinsiza zamaqembu wokusekela noma ukufundiswa kokufundisa.

Iyini I-Takeaway Key Mayelana ne-Albinism?

I-Albinism iyimo lemfundo eliqondwayo elithinta ukukhiqizwa kwe-pigment esikhumbeni sakho, izinwele, kanye namehlo. Nakuba ibonisa izinselele ezithile, ikakhulukazi ngokubona nokukhanya kwelanga, abantu abaningi abane-albinism baphila impilo egcwele, ezuzisayo.

Ukuze uphumelele nge-albinism, kubalulekile ukunakekelwa okuqhubekayo nokuvikelwa. Lokhu kusho ukuhlolwa kwamehlo okuvamile, ukuvikelwa kwelanga okuqinile, ukuhlolwa kwesikhumba okuvamile, nokuxhumana nabaphathi bezempilo abaqonda leli dimo.

Khumbula ukuthi i-albinism iyisici esisodwa salokho oyikho. Ngokuphathwa okuqondile nokusekela, ungalandela imigomo yakho, ugcine ubuhlobo, futhi ujabulele impilo njenganoma ubani.

Hlala unolwazi mayelana nezindlela zokwelapha ezintsha nokucwaninga, kodwa ungavumeli leli dimo lichaze imingcele yakho. Gxila kulokho ongakwenza kanye nokusekela okutholakala ukuze kukusize ukhule.

Imibuzo Evamile Ebuzwayo Mayelana ne-Albinism

Q1: Ingabe abantu abane-albinism bangaba nezingane ezingenalo i-albinism?

Yebo, abantu abane-albinism bangaba nezingane ezingenalo leli dimo. Uma umlingani wabo engaphethe izinguquko ezifanayo zezakhiwo, izingane zabo ziyoba ngabathwali kodwa ngeke babe ne-albinism bona ngokwabo. Iphethini yokudluliselwa ixhomeke kuhlobo oluthile lwe-albinism kanye nesimo sezakhiwo zabazali bobabili.

Q2: Ingabe abantu abane-albinism banemehlo ebomvu?

Abantu abane-albinism abanemehlo ebomvu empeleni. Amehlo abo ngokuvamile aluhlaza okwesibhakabhaka, aluhlaza okwe-grey, noma aluhlaza okwesundu okukhanyayo. Ukubonakala obomvu kwenzeka kuphela ezimweni ezithile zokukhanya lapho ukukhanya kubonakala ezinhlanzi zegazi ngemuva kwamehlo ngenxa yokungabikho kwe-pigment.

Q3: Ingabe i-albinism ingathuthuka kamuva ekuphileni?

Cha, i-albinism iyimo lemfundo elidluliselwa ngezakhiwo ozalwa nalo. Ayithuthuki kamuva ekuphileni. Noma kunjalo, abanye abantu abanezinhlobo ezilula bangase bangaxilongwa kuze kube yilapho bekhula lapho izinkinga zobono ziqala ukubonakala noma lapho beba nezingane ezithintekile ngokucacile.

Q4: Ingabe i-albinism ivame kakhulu ezinhlotsheni ezithile zabantu?

Izinhlobo ezahlukene ze-albinism zivame kakhulu ezinhlotsheni ezithile zabantu. Isibonelo, i-OCA2 ivame kakhulu kubantu base-Afrika, ngenkathi i-OCA1 ivela kuzo zonke izinhlobo zabantu. Noma kunjalo, i-albinism ingachaphazela noma ubani kungakhathaliseki ubuzwe bakhe.

Q5: Ingabe abantu abane-albinism bangatamba noma babe mnyama ngokukhanya kwelanga?

Abantu abaningi abane-albinism abakwazi ukutamba futhi bayoshisa kuphela ngokukhanya kwelanga. Abanye abantu abanezinhlobo ezithile ze-albinism bangase bathuthukise ukumnyama okuncane, kodwa lokhu kuncane futhi akunikeli ukuvikelwa okuqondile ekukhanyeni kwe-UV. Ukuvikelwa kwelanga kuhlala kubalulekile kungakhathaliseki noma yikuphi ukushintsha kombala okuncane.