Scenario 4th

Block 7

Trigger 1

st

A mother brings her 2-year-old-son to a

pediatrician. She just recently observes
that her son looks pale. She also just
realized that her son is smaller than his
peer. His elder sister, 4 years old, is
completely healthy without such
complaints.
After taking clinical history and physical
examination, the doctor decide to
proceed with additional examinations.

Trigger 2

nd

Blood examination reveals severe

anemia with decreased MCV and MCH.
On peripheral blood smear, there are
marked anisocytosis and poikilocytosis
with many nucleated red cells,
contracted red cells and polychromasia.
Hemoglobin electrophoresis shows
marked increase of HbF and elevated
HbA2.

Trigger 3

rd

The doctor diagnoses him as having beta

thalassemia major. Further DNA analysis
revealed the presence of 2 mutations in
the globin gene of the patient, including
single nucleotide substitution in codon 26
(GAG AAG) and mutation in intron 1
(IVS1-5G>C). His father carries the
heterozygote mutation in codon 26, while
his mother has the heterozygote
mutation in intron 1.

Trigger 4
Based on those data, the doctor
established a final diagnosis of beta
thalassemia compound heterozygote
for the boy.