DISORDERS CAUSES TREATMENTS/ POSSIBLE
TREATMENTS
Thalassemia - when someone inherits gene
mutations (‘spelling errors’ in
the DNA in genes) from one or
both parents and make the
body lose red blood cells more
quickly than normal and result
in less haemoglobin
Sickle Cell Anemia - People with sickle cell anemia
inherit the disease from their
biological parents. In sickle cell
anemia, the gene that helps
make normal red blood cells
mutates, or changes. People
who inherit the mutated
hemoglobin protein gene from
both biological parents have
sickle cell anemia. People who
inherit the mutated gene from
one biological parent have the
sickle cell trait.
Cystic Fibrosis (CF) - CF is caused by a mutation
(change) in a gene called the
cystic fibrosis transmembrane
conductance regulator (CFTR)
gene. This gene helps control
salt and water in the cells and
affects the production of
mucus, sweat and digestive
fluids.
Down Syndrome Down syndrome is a genetic
disorder caused when abnormal
cell division results in an extra
full or partial copy of
chromosome 21. This extra
genetic material causes the
developmental changes and
physical features of Down
syndrome.
- People with severe
thalassaemia may need blood
transfusions every 3 to 4
weeks. People with less
severe thalassaemia might
need blood transfusions only
occasionally, or not at all. And
people with frequent blood
transfusions can take a
medicine that helps bring the
iron back to a safe level (called
iron chelation).
Healthcare providers typically
treat sickle cell anemia with
blood transfusions, antibiotics
to treat infections and
medications that reduce
symptoms caused by sickle cell
anemia complications. These
medications may include
hydroxyurea, voxlelotor, L-
glutamine therapy and
crizanlizumab. Right now,
allogenic stem cell
transplantation is the only way
healthcare providers can cure
sickle cell anemia and other
forms of sickle cell disease.
Healthcare providers typically
recommend transplantation for
people who have severe
complications such as stroke,
acute chest syndrome or
recurring VOC/acute pain crises.
- There's currently no cure for
cystic fibrosis, but a number of
treatments are available to help
control the symptoms, prevent
complications, and make the
condition easier to live with. -
Antibiotics to prevent and treat
chest infections medicines to
make the mucus in the lungs
thinner and easier to cough up -
Medicines to widen the airways
and reduce inflammation
- Special techniques and devices
to help clear mucus from the
lungs
- Medicines that help the
person absorb food better -
Following a special diet and
taking supplements to prevent
malnutrition
- A lung transplant may
eventually be needed if the
lungs become greatly damaged.
There is no single, standard
treatment for Down syndrome.
Treatments are based on each
individual's physical and
intellectual needs as well as his
or her personal strengths and
limitations. They may benefit
from:
- Early Intervention and
Educational Therapy
- Treatment Therapies