Oculocutaneous albinism rukuni ne na cututtuka na gado wanda ke nuna rashin launi na fata, gashi da idanu. A haƙiƙa, kasancewar melanin pigment a cikin iris da retina yana nufin cewa zabiya koyaushe yana tare da shigar da ido.

Albinism, menene?

Ma'anar zabiya

Oculocutaneous albinism yana faruwa ne saboda lahani na samar da launi na melanin ta hanyar melanocytes, saboda maye gurbin kwayoyin halitta.

Daban-daban na albinism:

Albinism type 1

Suna haifar da maye gurbi a cikin kwayar halitta don enzyme tyrosinase wanda ke taka muhimmiyar rawa wajen samar da pigment ta melanocytes.

Albinism Nau'in 1A

Akwai gaba ɗaya kawar da ayyukan tyrosinase enzyme. Don haka marasa lafiya ba su da wani launi a cikin fata, gashi da idanu tun lokacin da aka haife su, wanda hakan ya sa su zama fari zuwa fari masu jajayen idanu (lalacewar launi a cikin iris yana haifar da ganin retina ta ja).

Albinism Nau'in 1B

Rage ayyukan tyrosinase ya fi ko žasa alama. Marasa lafiya ba su da pigment a cikin fata da idanu a lokacin haifuwa, suna sanya su fari tare da jajayen idanu, amma daga farkon watanni na rayuwa alamun samar da pigment na tsananin ƙarfi suna bayyana akan fata da iris. (bambanta daga blue zuwa orange-rawaya). Muna magana akan maye gurbi ko rawaya zabiya.

Albinism type 2

Ita ce mafi yawan albinism, musamman a Afirka. Halin da ke da alhakin shine P gene na chromosome 15 da ke taka rawa a cikin jigilar tyrosine.

A lokacin haihuwa, yara baƙar fata suna da farin fata amma gashi mai gashi. Yayin da gashin ya girma, yakan zama launin bambaro kuma fatar jiki na iya samun ƙullutu, tabo mai duhu ko ma moles. Irises shuɗi ne ko rawaya zuwa launin ruwan kasa mai haske.

Albinism type 3

Yana da wuya sosai kuma yana samuwa a kan baƙar fata kawai. Yana da alaƙa da maye gurbi a cikin kwayar halittar TRP-I: fata fari ce, irises haske kore-launin ruwan kasa da gashi ja.

Wasu nau'ikan zabiya da ba kasafai ba

Hermansky-Pudlak ciwo

Ta hanyar maye gurbin kwayar halitta akan chromosome 10 da ke ɓoye sunadarin lysosome. Wannan ciwo yana haɗa albinism tare da rikicewar coagulation, fibrosis na huhu, granulomatous colitis, gazawar koda da kuma cardiomyopathy.

Ciwon daji na Chediak-Higashi

Ta hanyar maye gurbin kwayar halitta akan chromosome 1 wanda ke sanya sunadarin sunadarin da ke cikin jigilar launin launi. Wannan ciwo yana haɗawa da matsakaicin matsakaici sau da yawa, gashi tare da launin launin toka "azurfa", da kuma haɗarin ƙwayar lymphoma daga samartaka.

Griscelli-Pruniéras ciwo

Ta hanyar maye gurbin kwayar halitta a kan chromosome 15 wanda ke sanya sunadaran sunadaran da ke taka rawa wajen fitar da launi, yana danganta matsakaicin launin fata, gashin azurfa da fata mai yawa, ENT da cututtuka na numfashi da kuma hadarin cututtukan jini. m.

Abubuwan da ke haifar da zabiya

Albinism shine a rashin lafiya na gado ta hanyar maye gurbin kwayar halitta da ke ɓoye samarwa ko isar da launin fata ta hanyar melanocytes. Don haka fata da hanji ba su da yiwuwar yin launi da kyau.

Hanyar watsa wannan maye gurbi daga iyaye zuwa yaro shine a mafi yawan lokuta autosomal recessive, watau duka iyaye dole ne su kasance masu dauke da kwayar halittar da ba a bayyana a cikinsu ba kuma ana samun wadannan kwayoyin halitta guda biyu (daya uba, dayan uwa). a cikin yaro.

Dukkanmu muna dauke da kwayoyin halitta guda biyu, daya daga cikinsu yana da rinjaye (wanda ke bayyana kansa) ɗayan kuma (wanda ba ya bayyana kansa). Idan kwayar halittar recessive tana da maye gurbi, saboda haka ba a bayyana shi a cikin mutumin da ke da rinjayen kwayar halittar da ba ta canza ba. A daya bangaren kuma, a lokacin samuwar kwayoyin halitta (spermatozoa a maza da ova a cikin mata), rabin gates suna gadon halittar da aka canza. Idan mutum biyu suka haifi ɗa kuma sun kasance masu ɗauke da kwayoyin halittar da aka canza, to akwai haɗarin cewa yaron ya samo asali ne daga maniyyin da ke ɗauke da mutated recessive gene da kuma kwai mai ɗauke da kwayar halitta iri ɗaya. Da yake yaron ba shi da kwayar halitta mai mahimmanci amma kwayoyin halitta guda biyu sun canza, sai ya bayyana cutar. Wannan yuwuwar ba ta da yawa, don haka yawanci babu wasu lokuta na zabiya a cikin sauran dangi.

Wanene abin ya fi shafa?

Albinism na iya shafar al'ummar Caucasian amma ya fi kowa a Afirka akan baƙar fata.

Juyin halitta et rikitarwa mai yiwuwa ne

Babban matsalolin da albinism ke haifarwa shine ido da fata. Babu wasu matsalolin jini ko gabobin jiki sai dai a cikin cututtukan Hermansky-Pudlak, Chediak-Higashi da kuma cututtukan Griscelli-Prunieras.

Hadarin fata

Farin haske yana kunshe da launuka da yawa "a hade", wanda "rabu" misali a lokacin samuwar bakan gizo. Launi yana fitowa daga dukiyar da kwayoyin halitta ke da shi na ɗaukar dukkan launukan haske sai ɗaya, misali shuɗi yana ɗaukar komai sai shuɗi, wanda ke nunawa a jikinmu. Baƙar fata sakamakon sha duk launuka. Baƙar fata na fata yana ba da damar ɗaukar launukan haske amma kuma musamman Ultra Violets (UV) wanda ke haifar da haɗarin cutar kansa ga fata. Rashin launin launi da ke haifar da cutar ya sa fatar marasa lafiya "ta bayyana" zuwa hasken UV saboda babu abin da ke shafe su kuma za su iya shiga cikin fata kuma su lalata kwayoyin halitta a wurin, suna haifar da hadarin ciwon daji na fata.

Yaran da ke fama da zabiya dole ne su guji duk wani hulɗa da fatar jikinsu da hasken UV ta hanyar tsara ayyukansu (na cikin gida maimakon wasanni na waje misali), sanya sutura da suturar kariya da samfuran rana.

Hadarin ido

Marasa lafiyar albinism ba makanta ba ne, amma hangen nesansu na kusa da nesa yana raguwa, wani lokacin kuma yana da tsanani, yana buƙatar sanya ruwan tabarau masu gyara, galibi ana yi musu tin don kare idanu daga rana saboda su ma ba su da launin launi.

Tun daga kindergarten, yaron zabiya da ke fama da nakasar gani ana sanya shi kusa da hukumar kuma, idan zai yiwu, wani ƙwararren malami ne ke taimaka masa.