Ialbinism

Umxholo

• Yintoni ialbinism?
• Zithini iintlobo zealbinism?
• Ialculocutaneous albinism (OCA)
• OCA1
• OCA2
• OCA3
• OCA4
• Ialbinism yeOcular
• Isifo seHermansky-Pudlak
• Isifo sikaChediak-Higashi
• Isifo sikaGriscelli
• Yintoni ebangela ialbinism?
• Ngubani osemngciphekweni wealbinism?
• Ziintoni iimpawu zealbinism?
• Isifo sealbinism sifunyanwa njani?
• Luthini unyango lwealbinism?
• Ithini imbonakalo yexesha elide?

Yintoni ialbinism?

Ialbinism liqela elinqabileyo lokuphazamiseka kwemfuza elibangela ulusu, iinwele, okanye amehlo ukuba angabi nawo umbala omncinci. Ialbinism ikwanxulunyaniswa neengxaki zombono. Ngokwe-National Organisation for Albinism and Hypopigmentation, malunga ne-1 kwi-18,000 ukuya kwi-20 000 yabantu e-United States bane-albinism.

Zithini iintlobo zealbinism?

Iziphene zofuzo ezahlukileyo zibonakalisa iintlobo ezininzi zealbinism. Iindidi ze-albinism zibandakanya:

Ialculocutaneous albinism (OCA)

I-OCA ichaphazela ulusu, iinwele namehlo. Kukho iindidi ezininzi ze-OCA:

OCA1

I-OCA1 ngenxa yesiphene kwi-enzyme ye-tyrosinase. Zimbini iintlobo ze-OCA1:

• OCA1a. Abantu abane-OCA1a banokungabikho ngokupheleleyo kwe-melanin. Lo ngumbala onika ulusu, amehlo, kunye neenwele umbala. Abantu abanolu hlobo lincinci baneenwele ezimhlophe, ulusu oluthuthu kakhulu namehlo akhanyayo.
• OCA1b. Abantu abane-OCA1b bavelisa enye i-melanin. Banolusu olukhanyayo, iinwele namehlo. Umbala wabo unokunyuka njengoko bekhula.

OCA2

I-OCA2 ingaphantsi kwe-OCA1. Kungenxa yesiphene kwimfuza ye-OCA2 ekhokelela ekunciphiseni imveliso ye-melanin. Abantu abane-OCA2 bazalwa benombala okhanyayo nolusu. Iinwele zabo zinokuba mthubi, mhlophe, okanye mdaka. I-OCA2 ixhaphake kakhulu kubantu abavela e-Afrika nakumaMelika aseMelika.

OCA3

I-OCA3 sisiphene kuhlobo lwe-TYRP1. Ihlala ichaphazela abantu abanesikhumba esimnyama, ngakumbi abantu abamnyama baseMzantsi Afrika. Abantu abane-OCA3 banesikhumba esibomvu-mdaka, iinwele ezibomvu, kunye namehlo e-hazel okanye amdaka.

OCA4

I-OCA4 ibangelwa sisiphene kwiprotein ye-SLC45A2. Iphumela kwimveliso encinci ye-melanin kwaye ivela kubantu baseMpuma Asia. Abantu abane-OCA4 baneempawu ezifanayo nezo zabantu abane-OCA2.

Ialbinism yeOcular

I-Ocular albinism sisiphumo sokutshintsha kwemfuza kwi-X chromosome kwaye senzeka ikakhulu emadodeni. Olu hlobo lwe-albinism luchaphazela kuphela amehlo. Abantu abanolu hlobo baneenwele eziqhelekileyo, ulusu, kunye nombala wamehlo, kodwa abanemibala kwi-retina (ngasemva kweliso).

Isifo seHermansky-Pudlak

Esi sifo luhlobo olunqabileyo lwealbinism olubangelwa sisiphene kofuzo olunye kwezisibhozo. Ivelisa iimpawu ezifanayo ne-OCA. I-syndrome yenzeka ngemiphunga, amathumbu kunye nokuphazamiseka kwegazi.

Isifo sikaChediak-Higashi

Isifo i-Chediak-Higashi syndrome lolunye uhlobo olunqabileyo lwe-albinism esisiphumo sesiphene kuhlobo lwe-LYST. Ivelisa iimpawu ezifanayo ne-OCA, kodwa ayinakuchaphazela zonke iindawo zolusu. Iinwele zihlala zimdaka okanye zimhlophe nge-silvery sheen. Ulusu luhlala lumhlophe bukhrim ukuya ngwevu. Abantu abanesi sifo banesiphene kwiiseli ezimhlophe zegazi, nto leyo eyandisa umngcipheko wosulelo.

Isifo sikaGriscelli

Isifo sikaGriscelli sisifo esingaqhelekanga kakhulu kwimfuzo. Kungenxa yesiphene kuhlobo olunye lwesithathu. Kubekho kuphela esi sifo kwihlabathi liphela ukusukela ngo-1978. Senzeka nge-albinism (kodwa ayinakuchaphazela umzimba uphela), iingxaki zomzimba, kunye neengxaki zemithambo-luvo. Isifo sikaGriscelli sihlala sikhokelela ekufeni kwiminyaka elishumi yokuqala yobomi.

Yintoni ebangela ialbinism?

Isiphene kolunye lofuzo oluvelisa okanye olusasaza imelanin lubangela ialbinism. Isiphene sinokubangela ukungabikho kwemveliso ye-melanin, okanye isixa esincitshisiweyo semveliso ye-melanin. Imfuza enesiphene idlula isuka kubo bobabini abazali iye emntwaneni kwaye ikhokelela kwi-albinism.

Ngubani osemngciphekweni wealbinism?

Ialbinism sisifo esizuzwe njengelifa esikhoyo ekuzalweni. Abantwana basemngciphekweni wokuzalwa ne-albinism ukuba banabazali abane-albinism, okanye abazali abaphethe uhlobo lwe-albinism.

Ziintoni iimpawu zealbinism?

Abantu abanealbinism banazo ezi mpawu zilandelayo:

• ukungabikho kombala ezinweleni, kulusu, okanye emehlweni
• ilula kunombala oqhelekileyo weenwele, ulusu, okanye amehlo
• amabala esikhumba angenabala

Ialbinism yenzeka ngeengxaki zombono, ezinokubandakanya:

• strabismus (amehlo awele)
• I-photophobia (uvakalelo ekukhanyeni)
• i-nystagmus (intshukumo yamehlo ekhawulezileyo)
• ukungaboni kakuhle okanye ukungaboni kakuhle
• astigmatism

Isifo sealbinism sifunyanwa njani?

Eyona ndlela ichanekileyo yokufumanisa i-albinism kukuvavanya ufuzo ukufumanisa imfuza enesiphene enxulumene ne-albinism. Iindlela ezichanekileyo zokufumanisa i-albinism zibandakanya ukuvavanywa kweempawu ngugqirha okanye uvavanyo lwe-electroretinogram. Olu vavanyo luthatha amanyathelo okuphendula kweeseli ezibuthathaka ekukhanyeni emehlweni ukuveza iingxaki zamehlo ezinxulunyaniswa nealbinism.

Luthini unyango lwealbinism?

Akukho lunyango lwealbinism. Nangona kunjalo, unyango lunokunciphisa iimpawu kunye nokuthintela ukonakala kwelanga. Unyango lunokubandakanya:

• iiglasi zelanga ukukhusela amehlo kwimitha yelanga ye-ultraviolet (UV)
• impahla ekhuselayo kunye nelanga ukukhusela ulusu kwimitha ye-UV
• Iiglasi zamehlo zokulungisa iingxaki zombono
• utyando kwimisipha yamehlo ukulungisa iintshukumo zamehlo ezingaqhelekanga

Ithini imbonakalo yexesha elide?

Uninzi lweentlobo ze-albinism aluchaphazeli ubude bexesha lokuphila. Isifo seHermansky-Pudlak syndrome, isifo sikaChediak-Higashi, kunye nesifo sikaGriscelli sichaphazela ubude bexesha lokuphila, nangona kunjalo. Kungenxa yeengxaki zempilo ezinxulunyaniswa nee-syndromes.

Abantu abanealbinism kusenokufuneka banciphise imisebenzi yabo yangaphandle ngenxa yokuba ulusu kunye namehlo abo abuthathaka elangeni. Imitha ye-UV evela elangeni inokubangela umhlaza wolusu kunye nokulahleka kombono kwabanye abantu abanealbinism.