THALASSEMIA:

UNMASKING THE
GENETIC BLOOD
DISORDER
INTRODUCTION
Thalassemia is a group of genetic
blood disorders characterized by
abnormal hemoglobin production. It
is inherited and can lead to severe
anemia. This presentation aims to
provide an in-depth understanding
of the genetic and clinical aspects of
thalassemia.
GENETICS OF
THALASSEMIA

Thalassemia results from

mutations in the genes that
control hemoglobin production.
The most common mutations
affect the alpha or beta globin
genes. Understanding the
genetic basis is crucial for
diagnosis and management.
CLINICAL
MANIFESTATIONS

The clinical spectrum of

thalassemia ranges from mild
anemia to life-threatening
complications. Symptoms
include fatigue, pallor, and
enlarged spleen. Severe cases
may require regular blood
transfusions.
 Diagnosis and Screening

Early diagnosis and screening are

essential for managing
thalassemia. Techniques include
hemoglobin electrophoresis,
genetic testing, and prenatal
screening. Timely identification
can improve patient outcomes.
TREATMENT OPTIONS

Management of thalassemia
includes blood transfusions,
chelation therapy, and bone
marrow transplantation.
Emerging therapies such as
gene therapy hold promise for a
cure.
PSYCHOSOCIAL IMPACT

Living with thalassemia can

have a profound psychosocial
impact on patients and their
families. Supportive care,
education, and counseling are
integral to holistic management.
GLOBAL
BURDEN

Thalassemia is a global health

concern, particularly prevalent
in Mediterranean, Middle
Eastern, and Southeast Asian
populations. Public health
efforts are crucial for
prevention and management.
 CONCLUSION

Thalassemia is a complex genetic blood disorder with far-

reaching implications. Enhanced understanding of its
genetics and clinical manifestations is essential for
improving diagnosis, treatment, and support for affected
individuals.
Thanks!
Let’s be more helpful and respectful to
those with thalassemia