Understanding Albinism: first lesson

www.albinismo.it

UNDERSTANDINGUNDERSTANDING ALBINISMALBINISM

Tulime ong www.albinismo.it

LEARNING and TEACHINGLEARNING and TEACHING

Kilolo ProjectKilolo Project

Uganda Albinos' Association www.albinismo.it

Hello!Hello!


I’ mLilian Mutosi

I’ m 28 years old.I’ m HIV-positive.I have three children. They are going to school.


I’ mIvan Mukasa

I’m 19 years old.I have lost parents.I’m going to school,but I’m in need for school fees and support.


I’ mRobert Kakoma

I’ m 12 years old.I were discovered in areas around Mountain Rwenzori, when my father had rejected at my time of birth, which brought separation of my parent's marriage.


I’ mInnocent Muhumuza

I’ m 12 years old.The story of my life is sad too. It’s related to that of Robert.I were rejected.


I’ mDoreen Akahebwa

I’ m 15 years old.I were discovered in Kampala suburbs. I’m yearning to go for further studies. I’m in the ordinary level school now.

Uganda Albinos' Asociation www.albinismo.it

I’ mFaith Namuyanja

I’ m 17 years old.I were discovered in Kampala suburbs.I’m going to school.I’ m yearning to go for University studies.

Uganda Albino's Association www.albinismo.it

I’mJohn Waiswa

I’ m 4 years old.I were discovered in the Eastern region of Uganda.My story is a dad story of rejection.I’m supposed to begin schooling at my age,but my single mother cannot support me.


I’m Madina Nambi

I’ m 10 years old.My story is similar to John’s. I were once in school later dropped because of poor vision. My parents cannot afford hospital bills for my proper vision.


I’mAndrew Mwanje

I’m 8 years old.I haven’t pale appearance because I have ocular albinism. I’m sharing a story with Madina. I were once in school later dropped because of poor vision. My parents cannot afford hospital bills for my proper vision.


I’mApollo Lwanga

I’m 11 years old.I’m under thecare of my grandmother who cannot afford my life both at school and home.


John

Madina

AndrewWe will speak We will speak

aboutabout albinism. albinism.


FaithIvan

Doreen

Attend each lessonAttend each lessonwith great attention!with great attention!


ApolloLilian

Robert

Lesson 1Lesson 1What is Albinism?What is Albinism?

www.albinismo.it

The word ALBINISM describes a conditionthat sometimes is present at birth in humans and animals.

Humans and animals have ALBINISM when they haven’ t the usual amount of pigment or color in the skin, in the eyes and in the hair, fur or feather.

What does the word ALBINISM mean?

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fish Albinism in Animals

amphibian reptile

bird

mammalian

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albino no albino

The hair coloris different:

L.V., L.Shimoni, K.Inagaki www.albinismo.it

Albinsm in Human

White ethnic background

Black ethnic background

Yellow ethnic background

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The PLANTS can have albinism too.

This happens when they haven’t the usual amount of pigment or color in the stems and leaves and/or petals.

Albinismo in Italia. Indagine statistica www.albinismo.it

In Italy on 60.626.442 about 3900 people have one of the types of albinism.

OCA1 is the most commontype of albinism.

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There isn’t statistics on incidence of Albinism in Africa.

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MELANIN

What is the nameof pigment or color

that is found in the skin, hair and eyes?

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There are two types of melanin: black-brwon melanin (eumelanin), red-blond melanin (pheomelanin).Eumelanin and pheomelanin are present in different amount and different mixture in three different ethnic groups (black, yellow, white), in an ethnic group, in a family.

MELANINis a compound that colors our skin,hair and eyes.

What is melanin?

G.E.Costin www.albinismo.it

Normal variation of skin color in different ethnic groups

Biasutti www.albinismo.it

Relationship of skin color to latitude

higher numbers represent darker color skin.

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When there is the usual amount of melanin,the skin, hair and eyes of a person that belongs to the black ethnic group are dark, black.

the skin, hair and eyes of aperson that belongs to black ethnic group are

pale.This person HAS ALBINISM.

When there isn’t the usual amount of melanin,

tonksred300 www.albinismo.it

Innocent ed Antony belong to black ethnic group.

Innocent Antony

tonksred300 www.albinismo.it

Innocent HAS ALBINISM

Antony HASN’ T ALBINISM

The skin, hair and eyes of Innocent are pale, but the skin, hair and eyes of Antony are dark.

M.C.C www.albinismo.it

Marta has pale skin,but she hasn’ t Albinism.

Marta has pale skinbecause she belongs to white ethnic group.

Marta

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There are two form of Albinism: Oculocutaneous (OCA)andOcular (OA)

ALBINISM OCULOCUTANEOUSwhen there is little or no melanin in the skin, hair and eyes.

ALBINISM OCULAR when there is little or no melaninin the eyes alone.

R. Pellegrino www.albinismo.it

ALBINISM

OculocutaneousOCA

OcularOA

skin, hair, eyes eyes

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Ivan has oculocutaneous albinism

Andrew has ocular albinism

R. Pelllegrino www.albinismo.it

ALBINISM

OculocutaneousOCA

OcularOA

OCA1 OCA2

OCA3 OCA4

OA1

Oculocutaneous Albinism (OCA) includes four types. Ocular Albinism (OA) includes one type.

L.Montoliu-mod. R.Pellegrino www.albinismo.it

There are many steps in the process of converting the amino acid L-tyrosine to melanin

Slominski www.albinismo.it

The MELANIN formsin specialized organelles,

the MELANOSOMES

EUmelanosomes

PHEOmelanosomes

contained in the MELANOCYTES


The melanocytes are found in the skin, in the hair and in the eyes.

The MELANOCYTE cell has a number of dendritic processes.


melanocyteslocation

skin hair eye


Melanocytes location

skin hair eyes

epidermis hair follicle iris retina

stroma irideo

epitelio retinicoirideo

strato retinico

pigmentato

specifically:

A.H.Robins, R. Pellegrino www.albinismo.it

Epidermis

Hair follicle

melanocytes


retina

iris

EYE

epitelio retinico irideo stroma irideo

melanocytes

c.bipolari

melanocytes

bastoncelli coni strato pigmentato

G.E.Costin www.albinismo.it

In different ethnic groups

the melanocytes number and distributionare essentially constant;

Sturn-mod. R.Pellegrino www.albinismo.it

change: - number, distribution and packaging of melanosomes in the keratinocytes,

black yellow white

Sturn-mod. R.Pellegrino www.albinismo.it

- melanization grade, - relationship eumelanin/pheomelanin.

pheomelanincisteina

DOPAchinone

eumelanin

TYR

cAMP

PMATP

MC1R

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The melanin

•colors the skin, the hair and the eyes;

•protects the skin from sun damage;

•does develope and work well the eyes.

What does melanin do?


melaninfunctions

color protection development

skin hair

eyes

skin eyeseyes

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•The skin develops well and works well, but it’s pale and hasn’t protection from sun damage.

•The hair develops well, but it’s pale.

•The eyes are pale, doesn’t develop well and doesn’t work well.

When there isn’ t the usual amount of melanin

what does it happen?

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SKIN changes color (white → nearly normal pigmentation for ethnic and family background);hasn’t protection from sun radiations.

HAIR changes color alone.

EYES don’t develop well and don’t work well.


Innocent

The lesson 1 is over.The lesson 1 is over.For any questionFor any question

write to write to [email protected]@albinismo.it

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Kilolo ProjectKilolo ProjectTO BE CONTINUED

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IMAGES:- “Antony” by Albinos in Africa Killed for their organs (2) by tonksred300- Uganda Albino’s Association e SKGF- Tulime ong- L.V., L. Shimoni, K.Inagaki, G.E.Costin, Biasutti, M.C.C , L.Montoliu-mod.R.Pellegrino, Slominski, A.H.Robins, R. Pellegrino, Albinismo News - www.albinismo.it -PRESENTATION and TEXT:- R. Pellegrino, A. Falano, - www.albinismo.it Creative Commons Licence 3.0(Attibution – NonCommercial – ShareAlike)“Taken from Albinismo News – www.albinismo.it” )

Nota. Il testo presenta alcune piccole imprecisioni, al solo scopo di rendere più elementari e più chiari i concetti di base esposti.

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Understanding Albinism: first lesson