may edition file

Haemoglobin electrophoresis is a low cost, easily available
test which takes only 24 hours and can rapidly confirm the
diagnosis of beta thalassemia. It is therefore typically done
first. However, alpha thalassemia cannot be detected by this
method and requires genetic testing. Results on Pratik’s blood
sample ruled out beta thalassemia. However, because of the
persistent high RBC count and severe microcytosis, Dr Kanakia
suggested genetic testing to look for mutations in the alpha
haemoglobin chain. Genetic test results revealed a mutation
in the HBA1 gene, confirming that Pratik was a silent carrier
for alpha thalassemia. Similar genetic tests done on Pratik’s
mother showed that she was also a silent carrier. However, her
complete blood count results were absolutely normal, and she
showed no signs of haemoglobin deficiency
or microcytic anaemia. The reason for Pratik’s
iron deficiency turned out to be because of
his diet as he was predominantly on milk. Had
the doctors not pursued the reason for his
microcytic anaemia, Pratik and his mother’s
alpha thalassemia silent carrier status might
have gone undetected.
With genetic testing conveniently
available, screening for thalassemia should be
considered in patients who seem to have iron
deficiency anaemia with microcytic anaemia
and high RBC counts. Correct diagnosis can
prevent incorrect supplementation with
iron and avoid excessive investigation in an
attempt to treat ‘suspected’ refractory iron
deficiency. Further, patients like Pratik, who
are silent carriers, can be counselled so as to
prevent thalassemia cases later.
In India, beta thalassemia is much more
prevalent than alpha thalassemia and is a
major public health concern. Because of the
need for genetic testing to confirm alpha
thalassemia, it is likely that alpha thalassemia
is under-reported as well. “The main goal is to
prevent the birth of children with thalassemia
major”, says Dr Kanakia. If Pratik’s father was
also a carrier for alpha thalassemia, Pratik’s
siblings could have a much more severe
version of thalassemia that may require
regular blood transfusions and even bone
marrow transplantation. Treatment can be
very expensive and heavily dependent on
the availability of suitable donors for bone
marrow transplantation. It is therefore
important to screen for carriers of alpha and
beta thalassemia. This will help in identifying
future pregnancies that need to undergo
prenatal testing to rule out severe forms of
thalassemia.
In an effort to aid patient education and
prevent thalassemia major cases, Dr Kanakia
and Kanakia Health Care have created a
programme called Stop Thal, Screening for
Thalassemia and Opting for Prevention. The
programme helps one estimate the chances
of having a completely normal, thalassemia
minor, or thalassemia major child and would
increase awareness amongst thalassemia
patients and prove to be useful in reducing
thalassemia major incidents.
DR SHIVANEE SHAH
May 2019 / FUTURE MEDICINE / 47