Kuyini ukuba yi-albinism? Kungani isikhumba nezinwele ziphenduka zibe mhlophe?

Wake waphawula ukuthi abanye abantu banesikhumba nezinwele ezimpunga kakhulu, ngezinye izikhathi ngisho nezimhlophe? Ngisho namehlo abo aluhlaza okwesibhakabhaka noma onsundu. Emphakathini, ngezinye izikhathi sibabiza ngamagama ahlukene laba bantu. Kodwa lokhu kwaziwa ngokwezokwelapha njengesimo esibizwa ngokuthi i-albinism. Abantu abaningi bacabanga ukuthi lesi yisifo. Kodwa empeleni, akusona isifo, futhi asithelelani. Ngakho-ke, kufanele siqaphele lokhu namuhla?

Kuyini ngempela ukuba yi-Albinism?

Kalula nje, i-albinism iyisimo sofuzo esibangelwa ukwehla noma ukulahleka ngokuphelele kwe- pigment melanin emzimbeni wethu.

Cabanga nge-melanin "njengoyinki" wemvelo emizimbeni yethu. Loyinki yiwona onikeza umbala esikhumbeni sethu, ezinweleni nasemehlweni . Umuntu one-melanin eningi unesikhumba esimnyama, izinwele nasemehlweni. Umuntu one-melanin encane unesikhumba esikhanyayo. Ngakho-ke, umuntu one-albinism ukhiqiza i-melanin encane kakhulu emzimbeni wakhe. Yingakho isikhumba sakhe nezinwele zakhe ziphaphathekile kangaka.

Lo mbala, obizwa ngokuthi i-melanin, unesinye umsebenzi obalulekile ngaphezu kokunikeza umbala. Okusho ukuthi, usiza i-optic nerve emehlweni ethu ukuthi ikhule kahle. Ngakho-ke, abantu abaningi abane-albinism bangase babe nokukhubazeka kokubona ngezinga elithile.

Ingabe kulungile ukubiza umuntu ngokuthi 'u-albino'?

Kungenzeka ukuthi uke wezwa abantu abanalesi simo bebizwa ngokuthi “i-albino.” Kodwa njengodokotela, thina kanye nabantu abaningi abanalesi simo sikhetha ukubizwa ngokuthi “umuntu one-albinism.” Lokho kungenxa yokuthi akufanele ukubiza umuntu ngesimo sakhe sezokwelapha. Njengoba nje ukubiza umuntu onesifo sikashukela ngokuthi “unesifo sikashukela” kunokubiza “unesifo sikashukela” kunikeza lowo muntu inhlonipho.

Ingabe zikhona izinhlobo eziyinhloko zobu-albino?

Yebo, kunezinhlobo ezimbili eziyinhloko zobu-albinism. Futhi, ubu-albinism bungenzeka njengengxenye yezinye izifo ezingavamile zofuzo. Ake sibheke lezi ngokwehlukana.

Ubu-albinism obuhambisana nezinye izimo zezokwelapha

Akuvamile kakhulu ukuthi i-albinism ingenzeka njengesici sezinye izifo eziyinkimbinkimbi zezakhi zofuzo, okusho ukuthi ngaphezu kwe-albinism, inezimpawu ezithinta ezinye izinhlelo zomzimba.

• I-Hermansky-Pudlak syndrome (HPS): Ngaphezu kwe-albinism, lesi simo singabangela nezinkinga zokujiya kwegazi, izinkinga zamaphaphu, zezinso, noma zamathumbu .
• I-Chediak-Higashi syndrome (CHS): Kulesi simo, i-albinism yenza buthaka amasosha omzimba, okwenza kube lula ukuthi atheleleke njalo.

Yiziphi izimpawu eziyinhloko?

Isimo sobu-albino sithinta kakhulu ukubukeka kwesikhumba, izinwele, namehlo, kanye nokubona.

Isikhumba

Abantu abane-albinism bavame ukuba nesikhumba esikhanyayo kakhulu, kodwa lokhu kuncike ohlotsheni lwe-albinism abanalo kanye nenani le-melanin elikhiqizwa yimizimba yabo.

• Uhlobo 1 lwe-OCA: Isikhumba simhlophe kakhulu, cishe simhlophe.
• Izinhlobo ze-OCA 2 kanye ne-4: Zingaba nesikhumba esimhlophe esikhilimu.
• Uhlobo lwe-OCA 3: Isikhumba singase sibe nombala obomvu onsundu.

Izinwele

Umbala wezinwele nawo uyahlukahluka kuye ngohlobo lwe-albinism. Izinwele zabanye abantu zimhlophe ngokuphelele. Abanye bangase babe nezinwele eziphuzi ngokukhanyayo, ezisagolide, ezinsundu ngokukhanyayo, noma ezibomvu. Konke kuncike enanini le-melanin emzimbeni.

Amehlo

Umbala wamehlo ungaba luhlaza okwesibhakabhaka, i-hazel, noma onsundu. Kodwa-ke, ubu-albino buthinta ngqo hhayi umbala wamehlo kuphela, kodwa futhi nombono.

• Umbono ofiphele: Ukubona izinto ngendlela efiphele nengacacile.
• Amaphutha Okuvuselela Umbono : Izimo ezidinga izibuko, njengokubona eduze noma ukubona kude.
• I-Strabismus: Ubunzima bokugcina amehlo omabili ebheke ohlangothini olulodwa.
• I-Nystagmus: Ukunyakaza kwamehlo okusheshayo nokungalawuleki .
• Ukwesaba i-Photophobia: Amehlo aba luhlaza okwesibhakabhaka kakhulu ukuthi angabonwa elangeni noma ekukhanyeni okukhulu.
• Ukuqonda okujulile okunciphile: Ukungakwazi ukwahlulela ngokunembile ibanga lezinto.

Kungani lokhu kwenzeka? Ingabe lokhu kuyinto ezuzwe njengefa?

Yebo, ubu-albino buyisifo esibangelwa ufuzo ngokuphelele. Lokhu kusho ukuthi sizuzwa kubazali kubantwana.

Kunezakhi zofuzo eziningana emzimbeni wethu ezihlobene nokukhiqizwa kwe-melanin. Ukwehluka kwalezi zakhi zofuzo kungaphazamisa ukukhiqizwa kwe-melanin.

• I-Oculocutaneous albinism (OCA) izuzwa njengefa ngendlela yokubuyisa i-autosomal . Kalula nje, ukuze ingane ibe nalesi simo, kumele izuze i-gene yalesi simo kunina nakuyise . Uma umzali oyedwa kuphela ezuza i-gene, ingane ngeke ibe nezimpawu. Kodwa izoba "ngumthwali" we-gene. Lokhu kusho ukuthi uma ihlangana nomunye umthwali esikhathini esizayo, kunethuba elingu-25% lokuthi ingane yayo izoba ne-albinism.

• I-ocular albinism (OA) ivame ukutholwa njengefa ngendlela 'exhunywe ku-X' . Ngenxa yokuthi idluliselwa nge-chromosome X, ivame ukubonakala kwabesilisa.

Kutholakala kanjani futhi yiziphi izindlela zokwelapha?

Ukuhlonza

Udokotela uvame ukuxilonga lesi simo ngokuthi:

• Ekuhlolweni ngokomzimba:Isikhumba esikhanyayo, izinwele, nombala wamehlo kungabonakala lapho umuntu ezalwa noma ngemva nje kwalokho.
• Ukuhlolwa kwamehlo okuphelele: Ukuhlola izimpawu ezihlobene namehlo (njenge-nystagmus kanye ne-strabismus).
• Ukuhlolwa kwe-DNA: Kwezinye izimo, ukuhlolwa kwezakhi zofuzo kungenziwa ukuqinisekisa uhlobo oluthile lwe-albinism.

Ukwelashwa nokuphathwa

Njengoba lesi kuyisimo sofuzo, akukho ukwelashwa okungase kuphulukise lesi simo ngokuphelele ngokwandisa ukukhiqizwa kwe-melanin emzimbeni. Kodwa-ke, izinkinga ezihambisana nalesi simo zingaphathwa kahle futhi ungaphila impilo enempilo nejwayelekile.

Kunezindawo ezimbili eziyinhloko okufanele ugxile kuzo.

1. Ukunakekelwa kwesikhumba (kubaluleke kakhulu!)

• Ukuvikelwa elangeni: Gwema ukuchayeka elangeni ngangokunokwenzeka, ikakhulukazi phakathi kuka-11 ekuseni no-3 ntambama.
• Isikrini Sokuvikela Ilanga: Sebenzisa njalo isivikelo selanga esine-SPF engama-30 noma ngaphezulu esivikela emisebeni ye-UVA kanye ne-UVB uma uphuma ngaphandle . Buza udokotela wakho ngolwazi olwengeziwe ngalokhu.
• Izingubo zokuzivikela: Zenze umkhuba ukugqoka izingubo ezinemikhono emide, izigqoko, nezibuko zelanga ezinezivikelo ze-UV.
• Ukuhlolwa kwesikhumba okuvamile: Hlola isikhumba sakho njalo ukuze uthole amabala amasha, izinhlungu, noma izinguquko kumbala, usayizi, noma ukuma. Bheka udokotela ngokushesha uma ubona ngisho noshintsho oluncane.

2. Ukuvikelwa kwamehlo

• Ukuvakashela udokotela wamehlo: Kubalulekile ukuthi wonke umuntu one-albino abone udokotela wamehlo njalo.
• Izibuko zamehlo: Ukugqoka izibuko noma amalensi okuxhumana afanele ukulungisa amaphutha okukhanya.
• Usizo lokukhubazeka kokubona: Amadivayisi anjenge-magnifying lens angasetshenziswa ukuthuthukisa umbono.
• Ukuhlinzwa: Ngezinye izikhathi ukuhlinzwa kungenziwa ukuze kulungiswe i-strabismus.

Uma ingane yakho ine-albinism...

Kuvamile ngabazali ukuzizwa bedabukile futhi besaba lapho bezwa ukuthi ingane yabo ine-albino. Kodwa ngokusekelwa nokwazi okufanele, unganika ingane yakho impilo engcono.

• Yazisa isikole: Khuluma nothisha bengane yakho bese uchaza isimo sayo, ikakhulukazi ukukhubazeka kwayo kokubona. Cela usizo ngezinto ezifana nokuhlala nayo phambili ekilasini nokuyinika izincwadi ezibhalwe ngamagama amakhulu.
• Nika ingane yakho ukuzethemba: Ngenxa yokuthi ingane yakho ibukeka ihlukile kwabanye, ingase igconwe futhi ihlukunyezwe esikoleni nasemphakathini. Ngakho-ke, khuluma nengane yakho ngalokhu ngokukhululekile kusukela isencane. Faka ukuzethemba kuyo ukuthi ingakutshela okusengqondweni yayo.
• Yenza ukusebenzisa i-sunscreen kube umkhuba:Kwenze kube umkhuba ukuthi wonke umndeni usebenzise umuthi wokuvikela ilanga nsuku zonke. Uma kunjalo ngeke kuzwakale sengathi kuyinto nje engomntwana.
• Bona udokotela wakho njalo: Qiniseka ukuthi uyiyisa njalo ingane yakho ukuze iyohlolwa ngokwezokwelapha mayelana nesikhumba namehlo.

Ukuphila ne-albinism kungaba yinselele. Kodwa khumbula, akuvimbeli amakhono omuntu, ukuhlakanipha, noma ikhono lakhe lokuphumelela empilweni. Ngokuphathwa nokusekelwa okufanele, bangaphila impilo ephumelelayo nejabulisayo njenganoma ubani omunye.