These are the signs and
symptoms of thalassemia.
In beta-thalassemia minor, the patient
remember is usually asymptomatic
but they may have a very
mild persistent anemia.
In contrast, patients with beta thalassemia
major usually have pallor, fatigue,
growth delay because the
anemia can slow the growth,
Recurrent infections - predisposing factors for infections
in patients with thalassemia include their severe anemia,
iron overload, splenectomy and a
range of other immune abnormalities.
Splenomegaly - this means enlarged spleen.
Remember the spleen helps you fight infection and filter
unwanted materials such as old, damaged blood cells.
Thalassemia is often accompanied by this increased
destruction of a large number of red blood cells.
This causes your spleen to enlarge
and work harder than it should.
Splenomegaly can make anemia worse and it can
reduce the life of these transfused red blood cells.
Once the spleen gets too
large, it's surgically removed.
Thalassemia can make the bone marrow expand as
it's trying to compensate and churn out more cells.
This can actually cause the bones to widen.
Deformities of the face and skull can
develop and the expansion of the bones
can also make the bones thin and
brittle, increasing the risk for fracture.
Severe thalassemia is associated with congestive heart
failure and abnormal heart rhythms known as arrythmias.
These are the signs and symptoms
based on insufficient transfusion.
The first is facial deformity, the patient may
develop hypertrophy of the upper maxillary bones.
In the blood we will see the patient has anemia.
The patient's also predisposed to this pathologic fractures
and premature closure of the lower femoral epiphysis
and this is due to the bone marrow expansion.
At the same time, when the patient does get a blood
transfusion, there are also complications that develop
due to the iron overload if there is
insufficient chelation which is iron removal.
This iron is going to wreak havoc on many of the body
system and organs including the pituitary system,
the thyroid gland, the heart and of course this
is the most important organ that can be affected,
the pancreas, the genitals and this can
cause difficulty in function and development,
the parathyroid gland causing a hypoparathyroidism
that's going to affect the calcium level,
the liver can become
enlarged that's hepatomegaly,
skin pigmentation - the patient
can get a slate-grey discoloration,
and bone and joint pain related
to the hypoparathyroidism.
Moderate to severe thalassemias are often diagnosed before
the age of 2 because of the severity of symptoms.
Most patients with thalassemia trait or thalassemia
minor are found incidentally when they have a routine CBC
and it's gonna show a
microcytic hypochromic anemia.