Albinisme Pada Manusia
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7/26/2019 Albinisme Pada Manusia
1/4
ALBINISME
PADA
MANUSIA
oleh
Drs. Agus Hery
Susanto,
M.S.
staf
pengajar
Fakultas
Biologi
Unsoed
Pendahuluan
Secara etimologi
albinisme
berasal
dari
kata
albus
dalam
Bahasa
Latin
yang
artinya
putih.
Albinisme
adalah
kelainan
bawaan
berupa
ketiadaan
atau
kekurangan
pigmen
melanin
di
kulit,
rambut, dan
mata.
Oleh
karena
itu, albinisme
kadang-kadang
disebut
juga
dengan
istilah
akromia,
akromasia
atau
akromatosis
(a:
tidak; chroma:
warna).
Kegagalan
pembentukan melanin
tersebut
disebabkan
oleh
ketiadaan atau
kerusakan
enzim
tirosinase,
suatu
enzim
yang
mengandung
tembaga
dan
terlibat
dalam
pembentukan
melanin.
Kegagalan
ini
dapat
terjadi
secara
sempuma
atau
hanya
parsial. tndividu
yang
sama
sekali
tidak
memiliki
pigmen
melanin
(amelanisme
atau amelanosis)
dinamakan
albino,
sedangkan
individu
yang
hanya mengalami
kekurangan
melanin
(hipomelanisme
atau
hipomelanosis)
dinamakan
albinoid.
Albinisme
dapat
terjadi
pada
semua
hewan
vertebrata,
termasuk
manusia. Berikut
ini
akan dijelaskan
sekilas
perihal
tentang albinisme
pada
manusia.
Gejala
Albinisme
pada
Manusia
Pada
dasamya
ada dua
mactlm albinisme
pada
manusi4
yaitu
albinisme
okulokutaneus
dan
albinisme
okuler.
Albinisme
okulokutaneus
terjadi
pada
mata,
kulit,
dan rambut,
sedangkan
albinisme
okuler
hanya
mengenai
mata. Kebanyakan
penderita
albinisme
okulokutaneus
nampak
putih
atau
sangat
pucat
karena
sama
sekali tidak
ada
melanin
yang
bertanggung
jawab
atas
terbenttrknya wama
hitam, coklat, atau
kekuningan.
Sementara
itu,
penderita
albinisme
okuler
memiliki
mata
biru
muda dan
adakalanya
membutuhkan
pembuktian
genetik
untuk
mendiagnosisnya.
Penderita
albinisme,
terutama okulokutaneus,
memiliki
kulit
yang sangat rentan terhadap
radiasi
ultraviolet
dari
sinar matahari.
Kulit
tersebut sangat
mudah terbakar
jika
terpapar
terlalu
lama.
Hal
ini
karena
tidak ada
melanin
yang
berfungsi
sebagai
pelindung
terhadap
radiasi
ultraviolet.
http://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.id
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7/26/2019 Albinisme Pada Manusia
2/4
Jika
pada
manusia
normal
biasanya
mata
berwarna
biru
atau
coklat,
tidak demikian
halnya
pada penderita
albinisme.
Mata
penderita albinisme
dapat
berwarna
merah,
merah
muda,
atau
ungu,
bergantung
kepada
kandungan
melanin
yang
ada.
Makin
sedikit
melanin,
makin
jelas
warna merah
retina yang
terlihat dari
lapisan
iris.
Kurangnya
pigmen
melanin
di mata
juga
menimbulkan
masalah
penglihatan,
baik
yang
terkait
maupun
yang
tidak
terkait
dengan
fotosensitivitas.
Secara
umum
penderita
albinisme
dapat
menjalani
hidup
dengan
pertumbuhan
dan
perkembangan
seperti
halnya
orang
normal
karena
kelainan
ini tidak
bersifat
mematikan.
Namun,
ketiadaan
atau
kekurangan
pigmen
melanin
pada
penderita
albinisme
dapat
meningkatkan
risiko
terjadinya
kanker
kulit
dan
masalah
kesehatan
lainnya,
khususnya
pada
mata.
Bahkan,
pada
sindrom
Chediak-Higashi
albinisme
dapat
berhubungan
dengan
gangguan
transportasi
butiran
melanin
yang
berdampak
pada
kekurangan
butiran
tersebut
di
dalam
sel-sel
imun
sehingga terjadi
peningkatan kerentanan
terhadap
infeksi.
Pewarisan
Albinisme
pada
Manusia
Pada umumnya
albinisme
disebabkan
oleh
alel
resesif
autosomal
sehingga
peluang
kemunculannya
sama
pada
kedua
jenis
kelamin.
Keberadaan
alel
resesif
ini
tidak
terdeteksi
pada
individu
heterozigot
karena
ekspresinya
tertutupi
oleh
alel
normalnya.
Dengan
perkataan
lain,
individu
heterozigot terlihat
normal
meskipun
sebenarnya
karier
(pembawa)
alel albinisme.
Jika
sepasang
suami
istri
masing-masing
karier albinisme
hendak
memiliki
seoftng
anak, maka
akan
ada
peluang
sebesar
2\o/obahwa
anak mereka
menderita albinisme
seperti
terlihat
pada
diagram
persilangan
berikut
ini.
.4 =
normal
a:
albinisme
8ea
x Aa?
normal
normal
(karier)
(karier)
4
o
?
A
A
A
AA
(normal)
Aa
(normal)
q
Aa
(normal)
aa
(albinisme)
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conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.idhttp://localhost/var/www/apps/conversion/tmp/scratch_6/bio.unsoed.ac.id
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7/26/2019 Albinisme Pada Manusia
3/4
Berbeda
halnya
dengan
albinisme
pada
umumnya,
albinisme
okuler disebabkan
oleh alel
resesif
rangkai
X
(X-linked
recessive
allele). Akibatnya,
pria
dengan satu
kromosom
X
hanya
memerlukan
satu kromosom
X
untuk
menderita
albinisme okuler,
sedangkan
wanita
untuk
terkena
albinisme
okuler
harus
dalam
keadaan
homozigot resesif
atau kedua
kromosom
X-nya
membawa
alel
resesif. Dengan
demikian,
pria
lebih
besar
peluangnya
untuk
menderita
kelainan
tersebut
daripada wanita.
Dampak
Sosial
Budaya
Albinisme
Akibat
adanya masalah
penglihatan
dan kerentanan terhadap
sinar
matahari, maka
penderita
albinisme
seringkali
juga
menghadapi
persoalan
sosial budaya.
Disadari
atau
tidak
mereka
kerap dianggap
aneh
serta
mengalami diskriminasi
dan
bahkan
kekerasan
fisik.
Banyak
perkembangan
budaya masyarakat
di
dunia ini
yang
terkait dengan
penyikapan
terhadap
penderita
albinisme.
Di
beberapa negara Afrika seperti
Tanzania dan Burundi
akhir-akhir
ini
dilaporkan terjadi
peningkatan
yang
cukup
tajarn
mengenai
kasus
pembunuhan
penderita
albinisme
yang
terkait
dengan
kepercayaan
mistis
tertentu.
Beberapa
bagian
tubuh
penderita
albinisme
diyakini
dapat
digunakan
sebagai
campuran
ramuan obat
untuk
menyembuhkan
suatu
penyakit.
Pada
bulan
September
2009
tiga
orang
pria
Tarr:anuLa
ditangkap
karena membunuh
seorang
anak albino
berumur
14
tahun
dan
memotong
kakinya untuk
keperluan
mistis.
Ada
suatu
kepercayaan
menyesatkan
lainnya,
yaitu
bahwa
berhubungan
badan
dengan
wanita
albino dapat
menyembuhkan
pria
dari
penyakit
AIDS.
Di
Zimbabwe
hal
ini
telah
menyebabkan
terjadinya kasus
pemerkosaan
dan
dengan sendirinya
justru
mengakibatkan
penularan
HIV
dari
pelaku
kepada korban.
Kasus
albinisme
nampak
tinggi
di
kelompok
etnis
tertentu
karena
terjadinya
perkawinan
sekerabat.
Sebagai
contoh,
Pulau
Ukerewe
di
Danau
Viktoria
Afrika dikenal
sebagai
tempat
yang
sangat banyak
penderita
albinismenya.
Hal
ini
diduga karena
pulau
tersebut secara
geografi
cukup
terisolasi
sehingga
perkawinan
sekerabat
menjadi tinggi frekuensinya.
Penutup
Oleh
karena
albinisme
merupakan
kelainan
bawaan
yang pada
umunnya disebabkan
oleh
alel resesif
autosomal, maka
tidak
dapat
dibedakan antara
individu
normal
dan individu karier.
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-
7/26/2019 Albinisme Pada Manusia
4/4
Dengan
demikian,
frekuensinya
di
dalam
suatu
populasi
sewaktu-waktu
dapat
berubah'
bergantung
kepada
tipe
perkawinan
yang
terjadi.
Hingga
kini
belum
ada
pengobatan
yang
dapat
diberikan
unfirk
menyembuhkan
albinisme
seperti
halnya
pada
kelainan
bawaan
lainnya'
Namun, hal
yang
lebih penting
adalah
cara
masyarakat
menyikapi
para
penderita albinisme
agar
tidak
terjadi
diskriminasi
sosial
dan
ada
kesempatan
yang
sama
bagi
para
penderita
albinisme
untuk
dapat
berkarya
seperti
layaknya
manusia
normal'
Daftar
Pustaka
carden,
s.M.,
Boissy,
R.8.,
Schoettker,
P.J.,
and
Good,
w.v.
1998.
Albinism:
modern
molecular
aiugnorir.
rni'nrttisitt
Journal
of
ophthalmoloq,,p
(2):
189-95
Gronskov,
K.,
Ek,
J.,
and
Brondum-Nielsen,
f.
iOOl.
Oculocutaneous
albinism
'
Orphanet
Journal
of Rare
Diseases
2:43'
Kaplan,
J.,
De
Domenico,
L,
and
ward,
D.
M.
2008'
chediak-Higashi
syndrome'
current
Opinion
in
Hematologt
15
(l):22-29'
Susanto,
A.H.
2011.
Genetila
Edisi
ke-l.
Penerbit
Graha
I1nr1
Yogyakartz'
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