Thalassemia is a genetic blood disorder that affects the body's ability to produce hemoglobin, which is needed to carry oxygen in the blood. It can cause anemia and other complications, and is usually inherited from parents who are carriers of the thalassemia gene.

1. Thalassemia

2. Content
History
Introduction
Definition
Types of thalassemia
Pathophysiology
Causes
Symptoms
Diagnosis
Treatment
Prevention

3. Thalassemia
 First described by Dr Thomas Cooley
in 1925
 He observed the disorder in patients of
Mediterranean ancestry, and called
"Cooley's anemia".
 Doctors at the University of Rochester
coined the name Thalassemia.
 The name is derived from the Greek
word "Thalasso = Sea" and "Hemia =
Blood" in reference to anemia of the
sea.

4. Introduction
It is a group of hereditary anemia associated with defective
synthesis of Hb, the production of one or more globin chain
within the Hb molecules is reduced leads to
Hypochromia (hypo-less, and chromia means color that means
an abnormal decrease in the Hb content of RBCs) &
Extreme Microcytosis (small then normal RBCs),
Hemolysis (destruction of blood elements).
Thalassemia affects approximately 4.4 of every 10,000 live births
throughout the world. it was found that 50% of the patients had
died before age 35. At that age, 50% of the patients from an
Italian long-term study were still alive. Mutation are responsible
for more than 80% of β – Thalassemia cases in India.

5. Definition
It is the form of inherited blood disorder characterized by
abnormal formation of Hb. It results in improper oxygen
transport and destruction of RBCs which leads to anemia.

6. Type of Thalassemia
Hemoglobin made up of two parts.
Alpha globins
Beta globins
Thalassemia occurs when there is a defect in genes that helps
control production of one of these proteins. There are 2 main types
of thalassemia.
1. Alpha - It occurs when a genes related to the alpha globins are
missing or changed (mutated).
2. Beta – It occurs when similar gene defect affect production of
the B-globin protein.

7. Alpha Thalassemia

8. Beta Thalassemia

9. Pathophysiology

10. Causes
Mutation of gene or defect in gene
Genetic
Symptoms
• The severity of the symptoms of
thalassemia depends on the type of
thalassemia with which the patient
is suffering. For some people,
symptoms start appearing from
birth, while for others it may take a
few years to be visible. Listed
below are the common symptoms of
thalassemia:

11. Children affected with Thalassemia have slow growth.
Skin color turns to either pale or yellow.
Loss of appetite or poor appetite.
Fatigue and weakness.
Bone abnormalities, such as osteoporosis.
Jaundice.
Dark colored Urine
Slow growth
Swelling in the Abdominal.

12. Diagnosis
History
Physical examination
CBC - HB, MCV and MCH
Microscopic analysis- abnormal
RBCs.
Hb electrophoresis - show
abnormal from of Hb.
Mutational analysis - it can be
done when results of Hb
electrophoresis are inconclusive.
A reticulocyte count (a measure
of young red blood cells) may
indicate that your bone marrow
isn’t producing enough red blood
cells.

13.  HPLC ( High performance liquid chromatography) Test is
the most accurate diagnosis for screening of beta Thalassemia
carriers today. HPLC is a simple blood test to measure ‘Hb A2′
in blood by Hemoglobin Chromatography.

14. Treatment
Blood transfusion - it is given to the patient with
major thalassemia. It is required in every 2-3
weeks to supplement RBCs and maintain a Hb
level of around 9gm/dl.
Iron chelation therapy - with repeated blood
transfusion, iron load of the body in patient
increase, the condition is called iron overload.
Which can create complication and damage other
healthy organs include heart & liver. To prevent
iron overload medicines are prescribed.
Deferoxamine & deferasirox are common iron
chelators that free iron in the blood and cause it's
elimination through the urine.
Supplements - folic acid supplements must be
given to enhance the production of healthy RBCs.

15. Bone marrow and stem cell transplantation
from a compatible related donor is the only
treatment to cure thalassemia. Compatibility
means the donor has the same types of proteins,
called human leukocyte antigens (HLA), on the
surface of their cells as the person receiving the
transplant. Your healthcare provider will inject
bone marrow stem cells from your donor into
your bloodstream during the procedure. The
transplanted cells will start to make new, healthy
blood cells within one month.
Luspatercept is an injection that’s given every
three weeks and can help your body make more
red blood cells. It’s approved in the U.S. for the
treatment of transfusion-dependent beta
thalassemia.

17. Complication
Heart disease
Liver disease
Endocrine problem
Delay growth
Osteoporosis
Thrombophilia

18. Prevention
Thalassemia cannot be prevented since it is a genetically inherited
disorder. However, these disorders can be detected during prenatal tests
before birth. Also, genetic counselling helps to detect whether people
have altered or missing hemoglobin genes that cause thalassemia.

19. References
Thalassemia: cultural and historical perspectives - Science Museum Blog History of thalassemia.
Thalassemia - What Is Thalassemia? | NHLBI, NIH Introduction.
Thalassemia: Types, Traits, Symptoms & Treatment (clevelandclinic.org) Definition, symptoms, treatment,
prevention and diagnosis of thalassemia.
Thalassemia – DR. TRYNAADH (wordpress.com) pathophysiology
Thalassemia – A Laboratory Guide to Clinical Hematology (openeducationalberta.ca) Type of thalassemia
alpha and beta.
http://www.slideshare.net/alanisaad/the-thalassemias-16947358?from_m_app=android content.
Luspatercept