Albinism kubantu

Yonke into esinika abantu ngabanye, umbala wamehlo, iinwele kunye nefuthe lesikhumba, ikhona ngenxa yobukho be-melanin kwiiseli. Ukungabikho kwayo kuluhlu lwezofuzo zohlobo lokuzalwa. U-Albin kubantu abaqhelekanga, ifa ilifa kubazali, ingakumbi ukuba ngaba bobabini abathwala umthwalo wokuguqulwa komzimba.

Iintlobo kunye nezimbangela ze-albinism

I-synthhesis ye-melanin yenziwa ngenxa ye-enzyme ekhethekileyo-tyrosinase. Ukukhuselwa kwephuhliso lwayo kungakhokelela ekunqongopheni okungapheliyo kwe-pigment okanye ukusilela kwayo, okubangela ukuba i-albinism.

Izindlela zelifa lesi sifo zihlukaniswe zibe yi-autosomal ephezulu kunye ne-autosomal type excessive. Ngokuxhomekeka kohlobo, ukukhubazeka kubalwa kanje:

  1. I-albinism ekhethekileyo . Ukwenza isibonakaliso sibonakaliswe, kunelungelo lokuba nomzali omnye onomdla wokuziphatha.
  2. Ubuninzi be-albinism . Kuphela kwimeko xa bobabini kunye nonina benomdla wokuguqula i-DNA.
  3. I-albinism engapheliyo . Ilifa njengeli-autosomal eliphambili kunye ne-autosomally recessive.

Ngokuhambelana nemiboniso yekliniki, kukho uhlobo lwe-ophthalmic kunye nolunye uhlobo lwezilwanyana. Makhe siqwalasele ngokubanzi

I-albinism ye-Eye

Olu hlobo lwesifo luphephe ngokungapheliyo. Ubonakaliswe yimpawu ezilandelayo:

Isikhumba kunye neenwele zihlala ziqhelekileyo okanye zilula ngakumbi kunezinye izalamane.

Kubalulekile ukuba uqaphele ukuba abantu kuphela abachaphazelekayo yi-albinism ye-eye, kanti abafazi bayithwala kuphela.

I-Oculomotor albinism okanye i-HCA

Kukho iintlobo ezintathu zokuqwalaselwa kwe-albinism:

  1. I-HCA 1. Eli fom liqwalaselwa ngqutyana A (i-melanin ayivelwanga nonke) kunye ne-B (i-melanin iveliswa ngokwaneleyo ubuninzi). Kwimeko yokuqala, iinwele kunye nesikhumba akunakulungiswa (kumhlophe), ukudibanisa nelanga kubangela ukutshisa, iris iyabonakala, umbala wamehlo ubonakala obomvu ngenxa yemithambo yegazi. Uhlobo lwesibini luhamba kunye ne-pigmentation ebuthakathaka yesikhumba, okwandisa ngobudala, kunye nobukhulu bombala weenwele, iris;
  2. I-HCA 2. Into ebonakalayo yesikhumba esimhlophe kungakhathaliseki uhlanga lwesigulane. Ezinye iimpawu ziyahlukahluka - iinwele ezimnyama ezibomvu okanye ezibomvu, amehlo amnyama okanye aluhlaza okwesibhakabhaka, ukubonakala kweentlobo kwiindawo zokudibanisa zesikhumba kunye nelanga;
  3. I-HCA 3. Iyona nto inqabileyo ye-albin ngokubonakaliswa okungaqhelekanga. Ulusu, njengomthetho, lunomthi ophuzi obomvu okanye obomvu, njengeenwele. Amehlo - amanqabunga ama-blu-brown, kunye nobutyebi obubonakalayo buhlala buqhelekileyo.