So how is thalassemia managed?
Well standard treatments for patients with thalassemia
major are blood transfusions and then iron chelation.
The patient needs the components of the blood that they
don't need this extra iron that comes with the transfusion.
Patients with moderate to severe
thalassemia are going to get a transfusion
to restore their healthy red blood cells and
hemoglobin approximately every 4 months
And patients with beta thalassemia major, they
might require blood transfusions every 2 to 4 weeks
So every treatment has a risk and there is a risk of iron
overload in patients who received these blood transfusions.
These patients have to undergo iron chelation
to remove the extra iron and from the body
since the body cannot
rid the extra iron on its own.
Iron overload is very dangerous to your organs including
the liver, the heart, the kidneys and endocrine system.
So patients who receive frequent
transfusions also require this chelation
and this can be given in an oral pill.
Patients with thalassemia may also
require nutritional supplementation.
Nutritional supplements including
folic acid and B12 may be necessary
as these are the nutrients and key
components to make a healthy red blood cells.
W hile the aforementioned
treatments are helpful, they're not a cure.
Bone marrow and stem cell transplant from a compatible
related donor is the only treatment that can cure thalassemia.
It is the most effective treatment.
Compatible means that the donor has the same types
of proteins called human leukocyte antigens or HLA
on the surface of their cells as the person
who's going to be receiving the transplant.
Bone marrow transplant from a compatible
sibling offers the best chance for a cure.
Most patients with thalassemia
however lack of suitable sibling donor.
Within one month, the transplanted bone marrow stem
cells are gonna start to make new healthy blood cells.
Given the high risk of complications
associated with bone marrow transplant,
it's not routinely recommended for those with mild or
moderate thalassemia because it's a very high risk procedure.
Thalassemia is a complex condition and it can
cause complications in multiple organ systems
due to the effects of the chronic anemia on the body or the
consequence of the iron overload from trying to fix the anemia.
This is going to occur
across your patient's life span.
This is a chronic blood disorder but the
complications vary based on the patients age.
Here in pediatrics, we see clinical
concerns include growth failure,
poor development and
problems with skeletal deformities.
This can also impact your patient's school.
Throughout the lifespan, the patient's going to be anemic
and have a risk for iron overload from their transfusions.
In adolescents, the patient may start to
develop heart, liver and endocrine disease
and again this is a consequence of
receiving those frequent blood transfusions.
There can be complications in pregnancy
and delays with sexual development.
The anemia can also affect your patient in regard to
sports and hobbies and in their sexual life and relationships.
And finally in adulthood, this can contribute to
the development of malignancies and survival stress.
Patients with thalassemia have ineffective erythropoesis which
means they're not able to make red blood cells fast enough
to counteract the destructive
phase, this causes a chronic anemia.
Patients are also at an increased risk for infectious
blood-borne diseases from these repeated blood transfusions.
These patients have an increased risk of cancer.
When studied, the overall incidence of
hematologic malignancies and abdominal cancers
was much higher in patients with thalassemia
when compared to patients without thalassemia.
This is thought to be due to the iron overload and the risk
for hepatitis which can increase the risk for liver cancer.
The bone marrow in patients with
thalassemia is under constant stress.
This oxidative stress is going to
increase the risk of these blood cancers.
Another common complication is iron
overload and this is the end-organ damage.
This happens in the heart, the
liver and the endocrine glands.
So we monitor for this iron overload in
these patients because we expect it to happen
and you're gonna be checking a liver iron concentration
and also monitoring the serum ferritin level.
You can prevent this by helping your patient
optimiz their chelation to match their iron intake
and you also want to ensure
adherence to their chelation therapy,
You can treat this by optimizing their
chelation to the baseline iron levels
and this is gonna be different and patient-specific
and you also want to ensure their adherence.
Patients with thalassemia are at an
increased risk of acquiring viral hepatitis
due to these repeated blood transfusions.
You can monitor this by checking bloodwork for HCV
and HBV every one year in these transfused patients.
You can prevent by vaccinating your
patients for Hepatitis A and Hepatitis B.
And you can treat the patient by consulting with a
hepatologist to administer antivirals as recommended.
Remember, these patients are getting frequent blood
transfusions and the liver is under constant assault
by this extra iron every
time the patient's transfused.
Over time, this can wreak havoc on
the liver resulting in hepatic disease.
You can monitor this by checking your patient's liver function tests or LFTs
and you'll also perform liver ultrasounding
to check the size and density of the liver.
You can prevent this by optimizing
the chelation of their iron overload
and optimizing antivirals
to treat for viral hepatitis.
There are also lifestyle modifications for your patient
including eliminating or limiting alcohol intake
and liver toxic medications.
You can treat this by again optimizing the iron
chelation getting rid of that iron in the body
and consulting with the
specialist, a hepatologist.