Thalassemia is a hereditary blood disorder caused by mutations or defects in genes that control the production of hemoglobin. There are two main types - alpha thalassemia affects alpha globin genes and beta thalassemia affects beta globin genes. Thalassemia major occurs when an individual inherits defective genes from both parents, resulting in severe anemia symptoms within the first two years of life. Management involves regular blood transfusions, iron chelation therapy to remove excess iron, and supplements. Complications can include heart and liver disease, bone abnormalities, and growth delays if left untreated.

1. Thalassemia
ATHAR HAFEEZ
19-ARID-1333
SUBMITTED TO: DR. FEROZA HAMID WATTOO

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3. Thalassemia:
Introduction:
• Group of hereditary anemia associated with defective synthesis of
Hb
• Globin chain production is reduced
• It is an autosomal recessive blood disorder
• Result in excessive destruction of RBCs and leads to anemia
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4. Autosomal recessive disorder means two copies of an abnormal gene
must be present for the development of disease
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5. • It is caused by variant or missing gene that affect how the body
make hemoglobin
• People with thalassemia make less hemoglobin and fewer
circulating red blood cells than normal that results in mild or
severe anemia
• Reduces the production hemoglobin. Whereas iron deficiency
anemia affects heme synthesis of bloin.
Improper oxygen transport
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6. Causes:
1. Mutation in gene or defect in gene
(wrong gene coding)
2. Genetic
(Parents to offspring)
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8. Types:
Hemoglobin made up of two parts
• Alpha globin
• Beta globin
Thalassemia occurs when there is a defect in genes that control
production of one of these proteins
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9. 1 - Alpha thalassemia
Occurs gene related to alpha globin are missing or changed
(mutated)
2 - Beta thalassemia
Occurs When same gene affect production of B-globin protein
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10. Both A & B thalassemia including the following two forms-
1. Thalassemia major ( Cooley’s anemia )
when defective gene come from both parents
2. Thalassemia minor
It occurs if patient receive the faulty gene from only one parents
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12. Clinical presentation:
Thalassemia minor - characterized by mild anemia
Symptoms of beta thalassemia major appears in the first two years
of life.
• Fatigue and weakness
• Pale skin or jaundice (yellowing of skin)
• Protruding abdomen with enlarged spleen and liver
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14. • Dark urine
• Abnormal facial bones growth
• A poor appetite
• Beta thalassemia may experience delayed puberty
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15. Thalassemia major -
As in this patient receive defective gene from both parents.
The symptoms are much severe and usually seen within two years
• Severe anemia
• A pale appearance
• Anorexia, jaundice
• Delay growth and puberty
• Weak bones – abnormal facial bone
• Iron overload
• Enlargement of spleen, liver - Hepatosplenomegaly
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16. Facial bones abnormalities include
bossing of skull, hypertrophy of the
maxilla, exposing the upper teeth and
depression of nasal bridge
Massive Hepatosplenomegaly
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17. Diagnostic evaluation:
• History
• Physical examination
• Blood test – CBC, microscopic analysis
• Hb electrophoresis
• Mutational analysis – it can be done when results of Hb
electrophoresis are inconclusive
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18. Management:
1. Blood transfusion: it is given to major thalassemia.
Supplement of blood is required in every 2-3 weeks to
maintain Hb level normal around 90 grams per liter
2. Iron chelation therapy: Deferoxamine and deferasirox are
common iron chelators that free iron in the blood and causes
elimination through urine
3. Supplements: folic acid supplement enhance the production of
healthy RBCs
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19. 4. Surgery:
• Bone marrow transplantation
• Splenectomy
A surgical procedure to remove spleen
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20. Complications:
• Heart disease
• Liver disease
• Endocrine problems
• Delay growth
• Osteoporosis
• Thrombophilia
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21. References:
• https://en.m.wikipedia.org/wiki/CpG_sit
•
• https://www.pnas.org/doi/full/10.1073/pnas.052410099#:~:text=Cp
G%20islands%20are%20useful%20markers,and%20silencing%20of%2
0intragenomic%20parasites
•
• https://www.sciencedirect.com/topics/medicine-and-dentistry/cpg-
island
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• https://www.slideshare.net/jkhdfhk/introduction-to-cpg-island-
power-point-presentation 21

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