Thalassaemia Form 4
Transcript of 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