This document presents an overview of beta thalassemia, a hereditary blood disorder characterized by reduced synthesis of beta globin chains, leading to anemia. It details the three types of beta thalassemia (major, intermedia, and minor), their epidemiology, symptoms, diagnosis, and treatment options, as well as the importance of nutrition and genetic counseling. Key treatment methods include blood transfusions, chelation therapy, and bone marrow transplants.

2. HAFIZ M WASEEM UNIVERSITY OF
EDUCATION LAHORE

3. UNIVERSITY OF EDUCATION
LMC LAHORE
Presentation On:
Beta thalassemia
Subject :
Hematology

4. Contents
 Introduction
 Beta thalassemia
 Epidemiology
 Types
 Major
 Intermedia
 Minor
 Diagnosis
 Nutrition
 Genetic Counseling
 Conclusion
 References

5. THALASSEMIA
Definition
• “It is an inherited blood disorder in which the production of normal
hemoglobin is partly or complete suppressed as a result of the defective
synthesis of one or more global chains”.
Types :
 Alpha thalassemia
 Beta thalassemia

6. Beta thalassemia
Definition:
Beta-thalassemia syndromes are a group of hereditary blood disorders
characterized by reduced or absent beta globin chain synthesis, resulting in
reduced Hb in red blood cells (RBC), decreased RBC production and anemia”.
Epidemiology:
Beta thalassemia is relatively rare in the United States,but prevalent in
Mediterranean, Middle East, Africa, central Asia, the Indian subcontinent, and the
Far East.

7. Beta-thalassemia’s can be classified into three types:
• Thalassemia major
• Thalassemia intermedia
• Thalassemia minor
Thalassemia Major:
It is the most sever form of this disorder because of mutation in two hemoglobin
genes(HBB) Beta thalassemia major diagnosis is usually made during the first two
years of life often between 3 and 6 months after birth.
Types

8. Symptoms :
• Hepatosplenomegaly
• Delayed puberty
• Yellow skin ( jaundice, pallor)
• Abdominal swelling
• Growth retardation
• Skeletal abnormalities
• Shortened life expectancy

9. Treatment :
• Blood transfusion
• Surgery
• Chelation therapy
• Bone Marrow transplant

10. THALASSEMIA INTERMEDIA
Definition :
"Thalassemia intermedia represents up to one-fourth of β-thalassemia
patients. BT intermedia is caused by minor and/or silent mutations in the
HBB gene (11p15.5) encoding the beta-chains of hemoglobin ."
Symptoms:
• Extreme tiredness (fatigue)
• Pale skin
• Slow or delayed growth
• Weak bones
• Enlarged spleen
Treatment :
Blood transfusion
Chelation therapy

11. Thalassemia Minor
Definition:
Individuals with beta thalassemia minor have a mutation in one HBB
gene.Only one gene is damaged. This causes less severe anemia. People
with this type have a 50% chance of passing the gene to their children.
Symptoms and Treatment:
• Asymptomatic
• Folic acid

12. Diagnosis
• AMINOCENTESIS
• CHORIONIC VILLUS SAMPLING
• COMPLETE BLOOD COUNT (CBC)
• HEMOGLOBIN ELECTROPHORESIS

13. Nutrition:
Avoiding iron-fortified foods
Vitamin C-rich foods
Genetic counseling:
 Communication process
Emphasis on reproductive issues

14. • www.ncbi.nlm.nih.gov
• www.webmd.com
• rarediseases.info.nih.gov
• medlineplus.gov
• www.hopkinsmedicine.org
• www.kidshealth.org