This document discusses prenatal diagnosis and gene therapy for thalassemia. It begins with an introduction describing thalassemia as a congenital disorder of hemoglobin synthesis that causes anemia. It then covers the clinical classification of thalassemia and various diagnostic techniques used, such as denaturing gradient gel electrophoresis and amplification refractory mutation system. Finally, it introduces the topic of prenatal thalassemia gene therapy but does not provide any details.

1. PRENATAL DIAGNOSIS AND
GENE THERAPY FOR
THALASSAEMIA
By, Syed Baseeruddin Alvi
M.pharm-pharmacology
G.Pulla reddy college of pharmacy

2. CONTENT
• INTRODUCTION
• CLINICAL CLASSIFICATION
• DIAGNOSIS
• PRE-NATAL THALASSAEMIA GENE
THERAPY

3. INTRODUCTION
• Congenital disorders of hemoglobin
synthesis.
• Characterized by deficient synthesis of
one or more hemoglobin polypeptide
chains.
• Diverse group of disorders which manifest
as anemia of varying degrees.
• Distribution is worldwide.

5. CLINICAL CLASSIFICATION

8. DIAGNOSIS
• Denaturing gradient gel electrophoresis
• Amplification refractory mutation system
• Restriction enzyme analysis for mutation
detection and b-globin gene cluster
polymorphisms
• Allele-specific oligonucleotide (ASO)
hybridization
• PCR detection of deletions (‘gap’ PCR)

9. PRE-NATAL THALASSAEMIA
GENE THERAPY

10. CONCLUSION
THANK U