I-Oculocutaneous albinism yiqembu lezifo zofuzo ezibonakala ngokuncipha kwesikhumba, izinwele namehlo. Eqinisweni, ukuba khona kwe-melanin pigment ku-iris kanye ne-retina kusho ukuthi i-albinism ihlale ihambisana nokubandakanyeka kwe-ophthalmological.

I-Albinism, kuyini?

Incazelo yobu-albinism

I-albinism ye-Oculocutaneous kungenxa yokukhubazeka ekukhiqizeni i-melanin pigment ngama-melanocyte, ngenxa yokuguqulwa kofuzo.

Izinhlobo ezahlukene ze-albinism:

I-Albinism uhlobo 1

Zibangelwa ukuguqulwa kofuzo lwe-enzyme tyrosinase edlala indima ebalulekile ekukhiqizweni kwe-pigment ngama-melanocyte.

I-Albinism uhlobo 1A

Kukhona ukuqedwa ngokuphelele komsebenzi we-enzyme ye-tyrosinase. Ngakho-ke iziguli azinawo umbala esikhumbeni, izinwele namehlo kusukela zizalwa, okuwenza abe mhlophe kuya kwemhlophe izinwele ezinamehlo abomvu (isici sombala ku-iris kubangela ukuthi i-retina ibonakale ibomvu ngokusebenzisa)

I-Albinism uhlobo 1B

Ukuncipha komsebenzi we-tyrosinase kumakwa kakhulu. Iziguli azinayo i-pigment esikhumbeni nasemehlweni ngesikhathi sokuzalwa, okubenza babe mhlophe ngamehlo abomvu, kodwa kusukela ezinyangeni zokuqala zokuphila izimpawu zokukhiqizwa kwe-pigment yokuqina okuhlukahlukene zivela esikhumbeni nase-iris. (ihluka kusuka kokuluhlaza okwesibhakabhaka kuya kuwolintshi-ophuzi). Sikhuluma nge-yellow mutant noma i-albinism ephuzi.

I-Albinism uhlobo 2

Yiwona ojwayeleke kakhulu kuma-albinism, ikakhulukazi e-Afrika. Isakhi sofuzo esinesibopho isakhi sofuzo sika-P se-chromosome 15 esidlala indima ekuthuthweni kwe-tyrosine.

Ekuzalweni, izingane ezimnyama zinesikhumba esimhlophe kodwa izinwele ezi-blond. Njengoba izinwele zikhula, ziba nombala wotshani futhi isikhumba singase sibe nama-freckles, amabala amnyama noma ama-moles. I-irises inombala oluhlaza okwesibhakabhaka noma ophuzi kuya ensundu ngokukhanyayo.

I-Albinism uhlobo 3

Ayivamile kakhulu futhi ikhona esikhumbeni esimnyama kuphela. Kuxhunyaniswe nokuguqulwa kofuzo ekufakweni kwekhodi ye-TRP-I: isikhumba simhlophe, irises ikhanya ngokuluhlaza ngokunsundu kanye nezinwele ezibomvu.

Ezinye izinhlobo ezingavamile zobu-albinism

I-Hermansky-Pudlak syndrome

Ngokuguqulwa kofuzo ku-chromosome 10 efaka ikhodi ye-lysosome. Lesi sifo sihlobanisa i-albinism ne-coagulation disorders, i-pulmonary fibrosis, i-granulomatous colitis, ukwehluleka kwezinso kanye ne-cardiomyopathy.

I-Syndrome ka-Chediak-Higashi

Ngokuguqulwa kofuzo ku-chromosome 1 efaka ikhodi yephrotheni ebandakanyeka ekuthuthweni kwe-pigment. Lesi sifo sihlobanisa ukukhishwa kwebala okumaphakathi okuvamise ukulingene, izinwele ezine-metallic "silvery" gray reflection, kanye nengozi eyanda kakhulu ye-lymphoma kusukela ebusheni.

I-Griselli-Pruniéras syndrome

Ngokuguqulwa kofuzo ku-chromosome 15 efaka iphrotheni edlala indima ekuxoshweni kombala, ihlobanisa ukubola kwesikhumba okusesilinganisweni, izinwele eziyisiliva nesikhumba esivamile, i-ENT kanye nezifo zokuphefumula kanye nobungozi besifo segazi. ezibulalayo.

Izinkinga ze-albinism

I-Albinism yi-a isifo sofuzo ngokuguqulwa kofuzo olufaka ikhodi ukukhiqizwa noma ukulethwa kwebala lesikhumba ngama-melanocyte. Ngakho-ke isikhumba nama- integuments awanalo ithuba lokushintsha umbala ngendlela efanele.

Indlela yokudlulisela lokhu kuguquka kusuka kumzali kuya enganeni ezikhathini eziningi i-autosomal recessive, okungukuthi bobabili abazali kufanele babe abathwali bofuzo olungavezwanga kubo nokuthi lezi zakhi zofuzo ezimbili (owoyise, omunye umama) ziyatholakala. enganeni.

Sonke siphethe izakhi zofuzo ezimbili, eyodwa yazo evelele (eziveza yona) kanti enye i-recessive (engazivezeli yona). Uma isakhi sofuzo esiphindaphindekayo sinokuguquguquka, ngakho-ke asivezwa kumuntu onofuzo olunamandla olungaguquki. Ngakolunye uhlangothi, ngesikhathi kwakhiwa ama-gametes (i-spermatozoa emadodeni kanye ne-ova kwabesifazane), ingxenye yama-gametes izuza i-gene eguquliwe. Uma abantu ababili bekhulelwa ingane futhi bengabathwali bofuzo oluguquguqukayo lwe-recessive, khona-ke kunengozi yokuthi ingane izobe isuka esidodeni esiphethe isakhi sofuzo esishintshashintshayo kanye naseqandeni eliphethe isakhi sofuzo esiphindaphindayo. Njengoba ingane ingenalo isakhi sofuzo esibusayo kodwa izakhi zofuzo ezimbili eziguquguqukayo eziguquguqukayo, ibe isiveza isifo. Lawa mathuba aphansi kakhulu, ngakho ngokuvamile azikho ezinye izimo zobu-albinism kuwo wonke umndeni.

Ngubani othinteka kakhulu?

Ubu-Albinism bungaba nomthelela kubantu baseCaucasia kodwa buvame kakhulu e-Afrika esikhumbeni esimnyama.

Ukuziphendukela kwemvelo nezinkinga kungenzeka

Izinkinga ezinkulu ezidalwa yi-albinism amehlo nesikhumba. Azikho ezinye izinkinga zegazi noma zesitho ngaphandle kwe-Hermansky-Pudlak, Chediak-Higashi kanye ne-Griselli-Prunieras syndromes.

Ingozi yesikhumba

Ukukhanya okumhlophe kwenziwa ngemibala eminingana "ehlangene", "ehlukanisa" isibonelo ngesikhathi sokwakheka kothingo. Umbala uvela endaweni ama-molecule anayo yokumunca yonke imibala yokukhanya ngaphandle kowodwa, isibonelo, okuluhlaza okwesibhakabhaka kudonsa yonke into ngaphandle kokuluhlaza okwesibhakabhaka, okubonakala ku-retina yethu. Imiphumela emnyama evela ekumunceni kwayo yonke imibala. Umbala omnyama wesikhumba wenza kube nokwenzeka ukumunca imibala yokukhanya kodwa futhi ikakhulukazi ama-Ultra Violets (UV) adala ingozi edala umdlavuza esikhumbeni. Ukungabi bikho kwesibala sombala esibangelwa yilesi sifo kwenza isikhumba seziguli sibe “sobala” emisebeni ye-UV ngoba akukho okumuncayo futhi ingangena esikhunjeni kulimaze amangqamuzana alapho, okubangele ingozi yomdlavuza wesikhumba.

Ngakho-ke izingane eziphethwe yi-albinism kufanele zigweme noma yikuphi ukuthintana kwesikhumba sazo nemisebe ye-UV ngokuhlela imisebenzi yazo (ikhaya kunemidlalo yangaphandle njengesibonelo), zigqoke izinto zokumboza nezingubo zokuzivikela kanye nemikhiqizo yelanga.

Ingozi yamehlo

Iziguli ezine-albinism azizona izimpumputhe, kodwa ukubona kwazo, eduze nakude, kuyancipha, ngezinye izikhathi kunzima, kudinga ukugqokwa kwamalensi okulungisa, avame ukugqama ukuze kuvikelwe amehlo elangeni ngoba nawo awanawo umbala.

Kusukela enkulisa, ingane ye-albino enenkinga yokubona ibekwe eduze ngangokunokwenzeka ebhodini futhi, uma kungenzeka, isizwa uthisha okhethekile.