thalassaemia form 4

8/14/2019 Thalassaemia Form 4

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ThalassaemiaOrientation course

Science and Mathematics

Curriculum

Form IV


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Background

Advances in human genetics during the last 20

years have revolutionized knowledge of the

role of inheritance in health and disease

Thalassaemia is one of the commonest genetic

disease (single gene disorder) in Malaysia with

great impact on the health and socio-economy

of the population


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Aim

Introduction of genetics and genetic diseases

in school curriculum

Increase the understanding of genetics andgenetic diseases among school children

Increase the awareness and knowledge of

thalassaemia among school children

Primary prevention of thalssaemia, and genetic

diseases in general


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Content

What is Thalassaemia?

Red blood cell

HaemoglobinGene, Chromosome

How can one get Thalassaemia?

Production of globin

Inheritance


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Content

What happen to patients with Thalassaemia?

Why one need to know about Thalassaemia?

the extent of the problem in Malaysia

What should be done to prevent Thalassaemia?

role of the carrier

screening test

Discussion What should be included in thecurriculum? Where? How?


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What is Thalassaemia?

Thalassaemia is an inherited

red blood cell disorder due to

genetic abnormality resulting

in chronic anemia in both

males and females


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Blood

The fluid which

circulated

through the

heart and theblood vessels in

our body,

carrying oxygenand nutrients.


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Red blood cell

-carrying oxygen

White blood cell- killing germs

Platelet

- prevent bleeding


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Haemoglobin

The protein whichcarries oxygen in red

blood cell is called

haemoglobin

2 major portion:

1. Haem contain iron

2. Globin chains

alpha/beta


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Globin chains (protein)

- produced by genes

found in chromosomes


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Human is made up of billions of cells

Nucleus[46 chromosomes]


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Abnormal number/structure of chromosome

leads to imbalance genetic information and disease

Extra chromosome 21 causes Down syndrome

- commonest genetic cause of mental retardation


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Chromosome

Gene

Each of us has 30,000 pairs of genes


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Gene code

Nucleic acids

A = adenine

T = thymidine

G = guanine

C = cytosine

3 of them make a code for an amino acid, thebuilding block for protein

One gene make one protein


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Normal gene produces normal protein

Abnormal gene produces abnormal protein or less

protein or no protein


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DNA (Globin gene)

Protein (globin)


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Abnormal globin gene

produces abnormal or less globin

Thalassaemia


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Globin genes

Globin genes comes in pair

Persons carrying one abnormal gene

carrier, healthy, but can haveabnormal children with thalassaemia


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Both Parents Carriers

R = normal

r = abnromal (Thalassaemia)Healthy


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One Parent Carrier

R = normal

r = abnormal


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Thalassemia

Lack of haemoglobin result in

insufficient supply of oxygen

to various part of body leading

to organ dysfunction


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From 6 months onwards

pale, tired

difficulty in breathing

in severe cases

abdominal swelling

-big liver

-big spleen

short stature


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Treatment

-requires frequent

lifelong bloodtransfusion


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Iron overload

-requires an

expensive medicine

(iron chelator)


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Complications

Without optimal treatment,

shorter life span!


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How common is Thalassaemia in

Malaysia?

1 in 25 individuals or 4% of population arecarriers

About 600,000 to a million population are

carriers for the disease About 2,500 to 3,000 patients currently

receiving treatment in the country a major

health problem Why so many carriers? Advantage as a carrier-

resistant against malaria


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Thalassaemic belt


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How does one know if he or she is a

carrier?

A special screening test called mean

corpuscular haemoglobin ( MCH) can be done

If MCH is less than 27 pg, haemoglobin

electrophoresis can be carried out to confirm

the carrier status


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What can be done if one is a carrier for

thalassaemia?

To prevent having a child with thalassaemia,

there are many choices:

- Obtain counseling from a trained doctor before

and after marriage, before pregnancy, duringpregnancy

- Obtain a life partner who is not a carrier

- Obtain DNA testing before and duringpregancy


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What should be included in the

curriculum for Form 4 student?

Red blood cells and its function

Haemoglobin and its role

Chromosome

Gene, DNA, nucleic acids, protein Globin production

Thalassaemia as a common genetic disease inMalaysia

Inheritance

Prevention of thalassaemia

Role of carriers


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Glossary

Inherit receiving from parents, i.e.passing from one generation to

another

Genetic determined by gene

Gene a hereditary unit, a sequence

of DNA in chromosome that isrequired to produce a function

protein


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Chromosome- thread like structure found inthe nucleus of cells containing genes

Mutation permanent change in the gene orDNA

DNA ( deoxyribonucleic acid)- the moleculethat encodes the gene responsible for thestructure and function of living organism andallows the transmission of genetic informationfrom generation to generation


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Red blood cell

the major cellular component of blood

- the main function is to carry oxygen from

the lung to all other parts of the body

- the role oxygen is energy production forsurvival

Chronic long standing

Anemia lack of red blood cell orhaemoglobin

Haemoglobin the major protein carrying

i d bl d ll

thalassaemia form 4

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