presented by HAFIZ M WASEEM university of education LAHORE Pakistan i am from mailsi vehari and studied in lahore

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