SICKLE CELL

ANAEMIA
Done by: Nabeelah Faleel, Nuha Mohammad,
Sara Rashid, Salma Thaseen Shavonne Milroy,
Zainab Shala, Zainab Ashroff, Zainab Rizaan
 WHAT IS SICKLE CELL ANAEMIA?
◦ Sickle cell disease is a group of inherited red blood cell disorders that affects hemoglobin, the
protein that carries oxygen through the body. If you have sickle cell disease, your red blood cells are
crescent or “sickle” shaped.
◦ The hemoglobin molecules stick together and form rigid rods that give the red blood cell a sickle
shape, so they don’t carry oxygen efficiently
◦ Due to their shape, they also can’t flow smoothly in blood vessels and gets stuck. Causing blockages
and restricting blood flow.
 Signs and
symptoms
◦ Anaemia: Sickle cells die easily, leaving you with too
little red blood cells. Without enough red blood cells,
your body can't get enough oxygen, causing fatigue
◦ Fever: Sickle cell disease increases the risk of serious
infection, fever can be the first sign of an infection.
◦ Serious pain I different parts of the body.
◦ Pale skin or nail beds. Yellow tint to the skin or whites
of the eyes.
◦ Signs or symptoms of stroke.
MUTATION  SICKLE CELL
ANEMIA
 INHERITANCE
GENETICS &
 Sickle cell disease is an inherited condition.
 Two genes for the sickle hemoglobin must be inherited from
one's parents in order to have the disease
 Sickle cell anemia is inherited in an autosomal recessive
manner.
 This means that the disease develops when someone
receives two copies of the mutated HBB gene: one from the
mother and one from the father.
 A person with just one copy of the mutated gene is said to
have the sickle cell trait.
 People with sickle cell trait usually do not have any
symptoms or problems but they can pass the mutated gene
onto their children.
 There are three inheritance scenarios that can lead to a
child having sickle cell anemia
 Pedigree
o Aa= trait (carriers)
o AA = affected
o aa = unaffected

Percentage:
1. 25% affected 25%
unaffected 50% carrier
2. 50% affected 50% carrier
3. 100% affected
TREATMENT