Thalassemia is a genetically transmitted blood disorder caused by mutations in genes that produce hemoglobin. It affects approximately 7% of the global population and causes 50,000 to 100,000 deaths annually. There are two primary types - alpha thalassemia affects alpha globin genes and beta thalassemia affects beta globin genes. Current treatments include blood transfusions, iron chelation therapy, and bone marrow transplants, but these have complications. Gene therapy is a promising new treatment that involves using a lentiviral vector to insert a normal globin gene into a patient's stem cells and could potentially cure thalassemia without lifelong treatments. The first successful human trial occurred in 2007 in France and showed sustained

2. Presenting By
Ahmad Ali (42)
6th Semester
IBGE

4. Thalassemia is a genetically transmitted blood
disorder characterized by absent or decreased
production of normal hemoglobin.
What is Thalassemia:
It leads to the death of about 50,000 to 100,000
people every year, whereas about 7% of the
world's population is a carrier of this
hemoglobin disorder.

5. • Thalassemia, was first described in 1925
by a Dr Thomas Cooley while studing italian
childrens with severe anemia (low levels of red
blood cells), poor growth, huge abdominal organs,
and early childhood death.
• In 1946, the cause of thalassemia was found
to be an abnormal hemoglobin structure.
History:

6. • Thalassemia is caused by mutations in
the genes that make hemoglobin.
• The mutations associated with
thalassemia are passed from parents to
children.
•Now a days in Pakistan there is high
prevalance of thalassemia mainly due
cousin marriages
Causes of Thalassemia:

7. •There are two primary types of Thalassemia
disease:
•Hemoglobin consist of two protein chain.
1. Alpha chain
2. Beta chain
So , type of thalassemia depends on
whether mutation is there in Alpha chain
or Beta chain.
•Alpha Thalassemia
• Beta Thalassemia
Types of Thalassemia:

8. Alpha thalassemia occurs when a
gene or genes related to the
alpha globin protein are missing
or changed
(Galanello & Cao, 2011).
Alpha Thalassemia:

9. Beta thalassemia occurs when
a gene or genes related to the
beta globin protein are
missing or changed
(Galanello & Origa, 2010).
Beta Thalassemia:

10. •Blood transfusions
• Iron chelation
•Bone marrow transplant
•But all these treatment procedures have
several complications.
e.g regular blood transfusion leads to iron
over loaded in the body which in turn affect
other body organs.
Treatments:

11. GENE THERAPY
A HOPE TO CURE
THALASSEMIA

12. Gene therapy:
• Gene therapy is a treatment that
involves altering the genes inside your
body's cells.
• Gene therapy holds promise for
treating a wide range of diseases
including thalassemia, SCA,
hemophilia .

13. • Scientists pioneering a new gene transfer treatment for
the blood disorder thalassemia, claiming they can
correct the lack of globin in patients' blood
cells which causes the disease.
• The technology is based on delivery of a lentiviral
vector carrying the normal human
globin gene into HSCs.
Lentiviral vectors belong to retroviridae family
e.g Human immunodeficiency virus type 1, the
representative lentivirus.
Gene Therapy to treat Thalassemia:

14. • In 2007, a patient in France receive
gene therapy for severe beta-Thalassemia
(Fucharoen & Winichagoon, 2012).
• Nine years after the procedure,
he was still doing well without blood
transfusions means that he don’t need his
monthly blood trasfusion.
Clinical Trials:

15. • Scientists took blood stem cells out of the
patient, used a lentivirus to insert a working
hemoglobin gene, and put the stem cells
back into the patient (Tsuruta, 2016).
Procedure:

17. Complications:
• There is only one patient in this study, but
the technique needs to go through a lot
more testing before it is commonly used in
hospitals.
• Also, scientists still don't know how to control
where the virus inserts the working
hemoglobin gene.

18. References:
Fucharoen, S., & Winichagoon, P. (2012). New updating into
hemoglobinopathies. Int J Lab Hematol, 34(6), 559-565.
doi:10.1111/j.1751-553X.2012.01446.x
Galanello, R., & Cao, A. (2011). Gene test review. Alpha-thalassemia.
Genet Med, 13(2), 83-88. doi:10.1097/GIM.0b013e3181fcb468
Galanello, R., & Origa, R. (2010). Beta-thalassemia. Orphanet J Rare
Dis, 5, 11. doi:10.1186/1750-1172-5-11
Tsuruta, T. ( 2016). Recent Advances in Hematopoietic Stem Cell Gene
Therapy
http://www.intechopen.com/books/innovations-in-stem-cell-
transplantation/recent-advances-in-hematopoietic-stem-cell-gene
therapy doi: 10.5772/53587