Ubu-Albino

-Delile

• Yini i-albinism?
• Yiziphi izinhlobo ze-albinism?
• I-Oculocutaneous albinism (OCA)
• OCA1
• OCA2
• OCA3
• OCA4
• I-Ocular albinism
• Isifo se-Hermansky-Pudlak
• I-Chediak-Higashi syndrome
• Isifo se-Griscelli
• Yini ebangela ubu-albino?
• Ngubani osemngciphekweni we-albinism?
• Ziyini izimpawu ze-albinism?
• Ixilongwa kanjani i-albinism?
• Yiziphi izindlela zokwelapha i-albinism?
• Uyini umbono wesikhathi eside?

Yini i-albinism?

I-Albinism iyiqembu elingajwayelekile lezinkinga zofuzo ezenza ukuthi isikhumba, izinwele noma amehlo angabi nombala omncane noma angabi nawo nhlobo. I-Albinism ibuye ihlotshaniswe nezinkinga zokubona. NgokweNational Organisation for Albinism and Hypopigmentation, cishe umuntu oyedwa kwabangu-18,000 kuya kwabangu-20 000 e-United States banohlobo oluthile lwama-albinism.

Yiziphi izinhlobo ze-albinism?

Izinkinga ezahlukahlukene zofuzo ziveza izinhlobo eziningi ze-albinism. Izinhlobo ze-albino zibandakanya:

I-Oculocutaneous albinism (OCA)

I-OCA ithinta isikhumba, izinwele namehlo. Kunezinhlobo ezingaphansi ezimbalwa ze-OCA:

OCA1

I-OCA1 ingenxa yokukhubazeka ku-enzyme ye-tyrosinase. Kunezinhlobo ezimbili ezincane ze-OCA1:

• OCA1a. Abantu abane-OCA1a abanakho ngokuphelele i-melanin. Le yi-pigment enikeza umbala, isikhumba, amehlo nezinwele. Abantu abanale subtype banezinwele ezimhlophe, isikhumba esiphaphathekile kakhulu, namehlo akhanyayo.
• OCA1b. Abantu abane-OCA1b bakhiqiza i-melanin ethile. Banesikhumba esikhanyayo, izinwele, namehlo. Umbala wabo unganda njengoba bekhula.

OCA2

I-OCA2 ayinzima kangako kune-OCA1. Kungenxa yokukhubazeka kuhlobo lwe-OCA2 okuholela ekwehliseni ukukhiqizwa kwe-melanin. Abantu abane-OCA2 bazalwa benombala okhanyayo nesikhumba. Izinwele zabo zingaba ophuzi, blond, noma onsundu ngokukhanyayo. I-OCA2 ivame kakhulu kubantu bomdabu wase-Afrika kanye nabomdabu baseMelika.

OCA3

I-OCA3 isici kuhlobo lwe-TYRP1. Imvamisa ithinta abantu abanesikhumba esimnyama, ikakhulukazi abantu abamnyama baseNingizimu Afrika. Abantu abane-OCA3 banesikhumba esibomvu ngokubomvu, izinwele ezibomvu, namehlo we-hazel noma ansundu.

OCA4

I-OCA4 ingenxa yesici esikwiprotheni ye-SLC45A2. Kubanga ukukhiqizwa okuncane kwe-melanin futhi kuvame ukuvela kubantu bomdabu wase-East Asia. Abantu abane-OCA4 banezimpawu ezifana nalezo zabantu abane-OCA2.

I-Ocular albinism

I-Ocular albinism ingumphumela wokuguqulwa kwezakhi zofuzo ku-X chromosome futhi yenzeka cishe kuphela kwabesilisa. Lolu hlobo lwe-albinism luthinta kuphela amehlo. Abantu abanalolu hlobo banezinwele ezijwayelekile, isikhumba, nombala wamehlo, kepha abanakho umbala ku-retina (ngemuva kweso).

Isifo se-Hermansky-Pudlak

Le syndrome iyindlela engavamile ye-albinism ngenxa yokukhubazeka kolunye lwezakhi zofuzo eziyisishiyagalombili. Ikhiqiza izimpawu ezifana ne-OCA. I-syndrome yenzeka ngezifo zamaphaphu, zamathumbu nezopha.

I-Chediak-Higashi syndrome

I-Chediak-Higashi syndrome ingenye indlela engavamile ye-albinism engumphumela wesici kuhlobo lwe-LYST. Ikhiqiza izimpawu ezifana ne-OCA, kepha kungenzeka zingathinti zonke izindawo zesikhumba. Izinwele zivame ukuba nsundu noma zibe mhlophe nge-silvery sheen. Isikhumba sivame ukuba mhlophe okakhilimu kube mpunga. Abantu abanalesi sifo banokukhubazeka kumaseli amhlophe egazi, okwandisa ubungozi bokutheleleka.

Isifo se-Griscelli

I-Griscelli syndrome yisifo esingavamile kakhulu sezakhi zofuzo. Kungenxa yokukhubazeka kolunye lwezakhi zofuzo ezintathu. Kube khona kuphela lesi sifo emhlabeni wonke kusukela ngo-1978. Senzeka nge-albinism (kodwa kungenzeka singathinti umzimba wonke), izinkinga zokuzivikela komzimba, nezinkinga zemizwa. I-Griscelli syndrome ivame ukuholela ekufeni kungakapheli iminyaka eyishumi yokuqala yokuphila.

Yini ebangela ubu-albino?

Ukukhubazeka kolunye lohlobo oluthile lokukhiqiza noma lokusabalalisa i-melanin kubanga i-albinism. Ukukhubazeka kungaholela ekungabikho kokukhiqizwa kwe-melanin, noma inani elincishisiwe lokukhiqizwa kwe-melanin. Isakhi sofuzo esingalungile sidlula sisuka kubo bobabili abazali siye enganeni futhi siholele ebukhosini.

Ngubani osemngciphekweni we-albinism?

I-Albinism yisifo esizuzwe njengefa esikhona ngesikhathi sokuzalwa. Izingane zisengozini yokuzalwa zine-albinism uma zinabazali abane-albinism, noma abazali abaphethe ufuzo lwe-albinism.

Ziyini izimpawu ze-albinism?

Abantu abane-albinism bazoba nalezi zimpawu ezilandelayo:

• ukungabikho kombala ezinweleni, esikhumbeni noma emehlweni
• ilula kunombala ojwayelekile wezinwele, isikhumba noma amehlo
• amabala wesikhumba anokungabi khona kombala

I-Albinism yenzeka ngezinkinga zokubona, ezingafaka phakathi:

• i-strabismus (amehlo awele)
• i-photophobia (ukuzwela ekukhanyeni)
• i-nystagmus (ukunyakaza kweso okungazibandakanyi)
• ukungaboni kahle noma ukungaboni
• astigmatism

Ixilongwa kanjani i-albinism?

Indlela enembe kakhulu yokuxilonga i-albinism iwukuhlola izakhi zofuzo ukuze kutholakale izakhi zofuzo ezinesici ezihlobene ne-albino. Izindlela ezinembe kancane zokuthola i-albinism zifaka phakathi ukuhlolwa kwezimpawu zikadokotela wakho noma ukuhlolwa kwe-electroretinogram. Lokhu kuhlolwa kukala ukuphendula kwamaseli azwela ukukhanya emehlweni ukuveza izinkinga zamehlo ezihambisana ne-albinism.

Yiziphi izindlela zokwelapha i-albinism?

Alikho ikhambi le-albinism. Kodwa-ke, ukwelashwa kunganciphisa izimpawu futhi kuvimbele ukonakala kwelanga. Ukwelashwa kungafaka:

• izibuko zelanga ukuvikela amehlo emisebeni yelanga ye-ultraviolet (UV)
• izingubo zokuzivikela kanye ne-sunscreen ukuvikela isikhumba emisebeni ye-UV
• izibuko zamehlo zokulungisa izinkinga zokubona
• ukuhlinzwa emisipheni yamehlo ukulungisa ukunyakaza kwamehlo okungajwayelekile

Uyini umbono wesikhathi eside?

Izinhlobo eziningi ze-albino azithinti isikhathi sokuphila. I-Hermansky-Pudlak syndrome, i-Chediak-Higashi syndrome, ne-Griscelli syndrome ziyayithinta impilo yokuphila, noma kunjalo. Lokhu kungenxa yezinkinga zempilo ezihambisana nama-syndromes.

Abantu abane-albinism kungadingeka banciphise imisebenzi yabo yangaphandle ngoba isikhumba namehlo abo azwela elangeni. Imisebe ye-UV evela elangeni ingadala umdlavuza wesikhumba nokulahleka kombono kwabanye abantu abane-albinism.