Beta thalassemia

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

1. HAFIZ M WASEEM UNIVERSITY OF EDUCATION LAHORE

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

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

4. 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

5. Beta thalassemia Definition: B eta-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.

6. Beta-thalassemia’s can be classified into three types: • Thalassemia major • Thalassemia intermedia • Thalassemia minor Thalassemia Major : I t 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

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

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

9. THALASSEMIA INTERMEDIA Definition : " T halassemia 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

10. 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

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

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

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