KOLEJ MATRIKULASI PAHANG

ENGLISH
ASSIGNMENT
Group members : 1ESH07
1. MUHAMMAD AMIRUL IFWAN BIN AZMAN
2. AHMAD ASYRAFF BIN MOHD SYAIHAN
3. AHMAD FAHIM IKHWAN BIN AHMAD FADIL

LECTURER’S NAME : MADAM RABIHAH SHAHIZAN BINTI ROSLAN

 WHAT IS
GENETIC DISEASE ?

A GENETIC DISEASE,ALSO KNOWN AS

GENETIC DISORDER OR INHERITED
DISORDER IS A MEDICAL CONDITION
CAUSED BY ABNORMALITIES OR
MUTATIONS IN AN INDIVIDUAL’S GENE OR
CHROMOSOME. THESE GENETIC
ABNORMALITIES CAN BE INHERITED FROM
ONE OR BOTH PARENTS AND CAN AFFECT
VARIOUS ASPECTS OF A PERSON’S HEALTH
AND DEVELOPMENT
 DO YOU KNOW ?

MALAYSIA HAS NO OFFICIAL DEFINITION OF RARE DISEASE YET BUT

CURRENTLY IN THE PROCESS OF REVIEWING THEM FOR MALAYSIA. THERE
ARE 13 RARE DISEASE SPECIALISTS AND A DOZEN MEDICAL DOCTORS IN
GENETIC CLINICS AROUND MALAYSIA, MAINLY IN PUBLIC HEALTH
FACILITIES. FROM THE SURVEY, 1,249 PATIENTS WERE DIAGNOSED WITH
RARE DISEASES IN PUBLIC HOSPITALS. ONLY 60% RECEIVED THEIR
MEDICATIONS OR SUPPLEMENTS, AND THE REST CONTINUED WITH
SYMPTOMATIC TREATMENT.
THERE
THERE ARE
ARE TWO
TWO
TYPES
TYPES OF
OF FAMOUS
FAMOUS
GENETIC
GENETIC DISEASE
DISEASE

SICKLE CELL HAEMOPHILIA

ANAEMIA
 WHAT IS SICKLE CELL DISEASE ?

Sickle cell disease is a genetic

disorder that affects the red blood
cell, leading to various health
compilation.

It is caused by a mutation in the haemoglobin gene

which is responsible for producing a protein called
haemoglobin that carries oxygen throughout the body

In individual with sickle cell disease, the mutation

causes the production of abnormal haemoglobin
known as haemoglobin S. The presence of
haemoglobin S causes red blood cell to become
sickle shape instead of their normal disc shape
 HAEMOPHILIA

WHAT IS HAEMOPHILIA
People who have haemophilia
often have longer bleeding after an injury or surgery and
spontaneous bleeding into the joints and muscles.This means
haemophilia is a disease where the blood doesn’t clotting

HISTORY WHAT CAUSE THIS DISEASE

Haemophilia occur more commonly in
males than females.Fun fact,Queen
Elizabeth has haemophilia
Haemophilia occur through genetic.It is
inherited in an X-linked recessive
pattern.A condition is considered X-
linked when gene mutation that causes
it is located on the X chromosome.

HOW HAEMOPHILIA DIAGNOSED

Haemophilia are diagnosed by

measuring factor clotting activity.
Genetic testing also available.It finds
disease-causing mutation in more than
99 and 98 percent of individuals.
 THERE ARE SEVERAL SYMPTOMS
OF SICKLE CELL ANEAMIA

ACUTE CHEST SYNDROME (ACS) ANEMIA

Sudden chest pain fatigue
COUGH
having skin colour that
trouble breathing more pale

STROKE SPLENETIC SEQUESTRATION

severe headache
trouble walking Pain in your upper left belly
Sudden weakness on one side of your Children enlarge spleen are
body visible orcan be felt through
Change in alertness
their skin

BACTERIAL INFECTIONS PULMONARY HYPERTENSION

Fever
Racing pulse
Pain in bones
Fainting or dizziness
Headaches
Feeling of short breath
Trouble breathing during exercise
 SYMPTOMS OF HAEMOPHILIA
People with severe hemophilia often have spontaneous
bleeding or bleeding for no apparent reason.
People with moderate hemophilia who have serious injuries
may bleed for an unusually long time.
People with mild hemophilia may have unusual bleeding, but
only after major surgery or injury.
Joint pain from internal bleeding. Joints in your ankles, knees, hips and
shoulders may ache, swell or feel hot to the touch.
Bleeding into your brain. People with severe hemophilia very rarely develop
life-threatening bleeding into their brains.

BLEEDING SWOLLEN LUMPS ON THEIR HEADS

Babies and toddlers may bleed from their Babies and toddlers who bump their
mouths after minor injuries heads often develop goose eggs

FUSSINESS,IRRITABILITY OR REFUSAL TO CRAWL OR WALK

These symptoms may happen if babies and

toddlers have internal bleeding into a muscle or
joint.