Neeg Albinism

Zoo Siab

• Albinism yog dab tsi?
• Dab tsi yog hom albinism?
• Oculocutaneous albinism (OCA)
• OCA1
• OCA2
• OCA3
• OCA4
• Ocular albinism
• Cov tsos mob Hermansky-Pudlak
• Chediak-Higashi syndrome
• Griscelli syndrome
• Dab tsi ua rau albinism?
• Leej twg muaj kev pheej hmoo rau albinism?
• Cov tsos mob albinism zoo li cas?
• Yuav kuaj li cas thiaj paub tus mob albinism?
• Yuav kho tus mob albinism li cas?
• Qhov tshwm sim mus sij hawm ntev yog dab tsi?

Albinism yog dab tsi?

Albinism yog ib pab pawg tsis tshua muaj cov caj ces ua rau tawv nqaij, plaub hau, lossis ob lub qhov muag tsis muaj xim lossis tsis muaj xim dabtsi. Albinism tseem tseem cuam tshuam nrog cov teeb meem tsis pom kev. Raws li National Organization for Albinism thiab Hypopigmentation, kwv yees li 1 ntawm 18,000 txog 20,000 tus neeg hauv Tebchaws Meskas muaj ib hom albinism.

Dab tsi yog hom albinism?

Txawv cov qhov teeb meem sib txawv ntawm cov ntshav albinism. Hom albinism suav nrog:

Oculocutaneous albinism (OCA)

OCA cuam tshuam rau daim tawv nqaij, plaub hau thiab ob lub qhov muag. Muaj ob peb subtypes ntawm OCA:

OCA1

OCA1 yog vim muaj lub cev tsis xwm yeem ntawm tyzyinase enzyme. Muaj ob qho me me ntawm OCA1:

• OCA1a. Cov neeg uas muaj OCA1a muaj tag nrho cov tsis muaj melanin. Qhov no yog xim uas muab cov tawv nqaij, qhov muag, thiab plaub hau lawv zas xim. Cov neeg muaj lub subtype no muaj plaub hau dawb, ntsej muag daj ntseg heev, thiab lub qhov muag pom kev.
• OCA1b. Cov neeg uas muaj OCA1b tsim tawm qee melanin. Lawv muaj lub teeb xim tawv nqaij, plaub hau thiab ob lub qhov muag. Lawv cov xim yuav ntau zog thaum lawv hnub nyoog.

OCA2

OCA2 tsis hnyav dua li OCA1. Nws yog vim muaj qhov tsis taus nyob hauv OCA2 gene uas ua rau txo melanin ntau lawm. Cov neeg uas muaj OCA2 yog yug los ntawm lub teeb xim thiab tawv nqaij. Lawv cov plaub hau yuav daj, daj, lossis lub teeb xim av. OCA2 yog ib txwm muaj rau cov neeg ntawm haiv neeg African thiab cov Neeg Qhab Miskas.

OCA3

OCA3 yog qhov tsis txaus ntseeg hauv lub TYRP1 gene. Nws feem ntau cuam tshuam rau cov neeg muaj daim tawv tsaus, tshwj xeeb yog cov neeg tawv dub dub. Cov neeg uas muaj OCA3 muaj tawv nqaij tawv muag xim liab, plaub hau liab ploog, thiab qhov muag daj lossis daj.

OCA4

OCA4 yog vim muaj qhov tsis xwm yeem hauv SLC45A2 protein. Nws ua rau cov khoom lag luam melanin tsawg kawg nkaus thiab feem ntau tshwm sim hauv cov neeg ntawm cov neeg Esxias sab hnub tuaj. Cov neeg uas muaj OCA4 muaj cov tsos mob zoo ib yam li cov neeg uas muaj OCA2.

Ocular albinism

Ocular albinism yog qhov tshwm sim ntawm kev hloov noob rau ntawm X chromosome thiab tshwm sim yuav luag txhua hauv cov txivneej. Hom albinism no tsuas cuam tshuam lub qhov muag. Cov neeg muaj hom no muaj cov plaub hau, tawv nqaij, thiab pleev xim zoo nkauj, tab sis tsis muaj xim nyob rau hauv qhov retina (sab nraub qaum).

Cov tsos mob Hermansky-Pudlak

Cov tsos mob no yog ib yam muaj tsawg kawg ntawm albinism uas yog vim muaj qhov tsis taus ntawm ib ntawm yim lub noob. Nws ua cov tsos mob zoo ib yam li OCA. Cov tsos mob tshwm sim nrog mob ntsws, plob tsis so tswj, thiab los ntshav kev ntshawv siab.

Chediak-Higashi syndrome

Chediak-Higashi syndrome yog lwm qhov tshwm sim ntawm albinism uas yog qhov txiaj ntsig ntawm kev tsis muaj nyob rau hauv cov qe LYST. Nws ua cov tsos mob zoo ib yam li OCA, tab sis yuav tsis cuam tshuam rau txhua thaj chaw ntawm daim tawv nqaij. Cov plaub hau feem ntau yog xim av lossis blond nrog lub silvery sheen. Cov tawv nqaij feem ntau yog creamy dawb rau greyish. Cov neeg muaj tus mob no muaj qhov ua tsis zoo cov qe ntshav dawb, ua rau lawv muaj feem kis ntau dua.

Griscelli syndrome

Griscelli syndrome yog yam tsis tshua muaj tshwm sim ntau. Nws yog vim muaj qhov tsis xws luag ntawm ib ntawm peb lub noob neeg. Tsuas yog muaj cov tsos mob no thoob plaws ntiaj teb txij li xyoo 1978. Nws tshwm sim nrog albinism (tab sis yuav tsis cuam tshuam rau tag nrho lub cev), teeb meem tiv thaiv kab mob, thiab teeb meem paj hlwb. Griscelli syndrome feem ntau ua rau muaj kev tuag nyob rau hauv thawj xyoo caum ntawm lub neej.

Dab tsi ua rau albinism?

Qhov kev puas tsuaj ntawm ib qho ntawm ob lub noob uas tsim tawm lossis faib melanin ua rau albinism. Qhov tsis xws li no yuav ua rau tsis muaj melanin ntau lawm, lossis txo qis ntawm melanin ntau lawm. Lub cev tsis xws luag hla dhau los ntawm leej niam leej txiv rau tus menyuam thiab coj mus rau albinism.

Leej twg muaj kev pheej hmoo rau albinism?

Albinism yog ib qho mob uas tau los ntawm kev muaj rau thaum yug los. Cov menyuam yaus yuav muaj kev pheej hmoo los ntawm kev yug los ntawm albinism yog tias lawv muaj cov niam txiv uas muaj albinism, lossis cov niam txiv uas nqa lub gene rau albinism.

Cov tsos mob albinism zoo li cas?

Cov neeg muaj albinism yuav muaj cov tsos mob li nram no:

• ib qho kev tsis muaj xim nyob rau hauv cov plaub hau, tawv nqaij, lossis qhov muag
• sib dua li ib txwm xim ntawm cov plaub hau, tawv nqaij, lossis qhov muag
• thaj ua rau thaj tawv nqaij uas muaj qhov tsis muaj xim

Albinism tshwm sim nrog cov teeb meem tsis pom kev, uas yuav suav nrog:

• strabismus (hla qhov muag)
• photophobia (rhiab rau lub teeb)
• nystagmus (tsis tuaj los lub qhov muag ceev)
• tsis pom kev lossis dig muag
• astigmatism

Yuav kuaj li cas thiaj paub tus mob albinism?

Txoj kev tseeb tshaj plaws hauv kev kuaj mob albinism yog los ntawm kev tshuaj ntsuam caj ces kom paub cov roj ntsha muaj feem cuam tshuam txog albinism. Tsawg dua cov kev raug ntawm kev kuaj pom albinism suav nrog kev ntsuam xyuas cov tsos mob los ntawm koj tus kws kho mob lossis kev ntsuas electroretinogram. Qhov kev ntsuam xyuas no ntsuas cov lus teb ntawm lub hlwb muaj teeb meem nyob rau hauv lub qhov muag kom pom qhov teeb meem qhov muag cuam tshuam nrog albinism.

Yuav kho tus mob albinism li cas?

Nws tsis muaj tshuaj kho tau albinism. Txawm li cas los xij, kev kho mob tuaj yeem txo cov tsos mob thiab tiv thaiv hnub tiv thaiv. Kev kho mob yuav suav nrog:

• Tsom iav los tiv thaiv lub qhov muag los ntawm lub hnub ci duab ci ultraviolet (UV)
• tiv thaiv khaub ncaws thiab tshuaj pleev thaiv hnub los tiv thaiv daim tawv nqaij los ntawm UV UV
• cov tsom iav qhov muag txhawm rau kho cov teeb meem tsis pom kev
• kev phais mob rau cov leeg ntawm lub qhov muag kom kho qhov muag tsis zoo

Qhov tshwm sim mus sij hawm ntev yog dab tsi?

Txhua hom albinism tsis cuam tshuam rau lub neej ncua. Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thiab Griscelli syndrome cuam tshuam rau lub neej ntev, txawm li cas los xij. Qhov no yog vim muaj teebmeem kev noj qab haus huv cuam tshuam nrog cov syndromes.

Cov tib neeg muaj kab mob albinism yuav tsum tau txwv txoj kev ua si sab nraum zoov vim lawv cov tawv nqaij thiab qhov muag nkag siab lub hnub. UV hluav taws xob UV dhau ntawm lub hnub tuaj yeem ua rau tawv nqaij tawv thiab tsis pom kev rau qee cov neeg muaj albinism.