Thalassaemia university slides for reference

Factors known for raising the risk are:
Family history: As mentioned earlier, thalassemia runs in families. The mutated hemoglobin genes are carried forward from the parents to their children. Therefore, having a family history raises your chance of thalassemia.
Specific ancestry: It is observed, that the blood disorder commonly occurs in African, Asian, Middle Eastern, Greek and Italian ancestry.

Alpha thalassaemia
•America: 0-5% of the population has a thalassemia trait, up to 40% may be a genetic carrier
•Eastern Mediterranean: 0-2% of the population has a thalassemia trait, up to 60% may be a genetic carrier
•Europe: 1-2% of the population has a thalassemia trait, up to 12% may be a genetic carrier
•Southeast Asia: 1-30% of the population has a thalassemia trait, up to 40% may be a genetic carrier
•Sub-Saharan Africa: 0% of the population has a thalassemia trait, up to 50% may be a genetic carrier
•Western Pacific: 0% of the population has a thalassemia trait, up to 60% may be a genetic carrier

Beta thalassaemia
•Americas: 0-3% of population is affected by a gene mutation
•Eastern Mediterranean: 2-18% of population is affected a gene mutation
•Europe: 0-19% of population is affected a gene mutation
•Southeast Asia: 0-11% of population is affected a gene mutation
•Sub-Saharan Africa: 0-12% of population is affected a gene mutation
•Western Pacific: 0-13% of population is affected a gene mutation

1. Prepared by: Jeevan, Chee Leong, Vaishali , Kah Wei Thalassemia

2. Introduction Inherited hemoglobin disorders Most common monogenic diseases worldwide Consists of α- thalassemia and β- thalassemia Heterogenous group of disorder Requires lifetime treatment Damage the heart, the liver and increase the risk of infections and bone deformities

3. Pathophysiology

4. Adult Hemoglobin ( HbA ) Two β globin chains Two α globin chains HETEROTETRAMER Heme group Globin

5. Types of Mutations HBA1 & HBA2 gene on chromosome 16 HBB gene on chromosome 11 Codes for alpha globin chain Codes for beta globin chain α-Thalassemia Mutation in HBA1 and/or HBA2 gene β-thalassemia Mutation in HBB gene Severity depends on the number of affected alleles

6. α- Thalassemia

7. β- Thalassemia

8. Pathogenesis Mutation on gene Hemotetramers unstable and insoluble in RBC ( Precipate in RBCs) Low hemoglobin Spleen recognizes the abnormal RBCs and start destroying them (RBC Hemolysis) Low globin protein synthesis Ineffective erythropoiesis Low RBC count (Anemia)

9. One is at risk for thalassemia if one is of any of the below: Family history of thalassemia Geographical regions where thalassemia is endemic Mediterranean area, the Middle East, the Indian subcontinent South-East Asia Ethnic groups of Southeast Asian, Indian, Chinese, or Filipino descent Mediterranean, Asian , or African descent Risk Factors

10. Family History

11. Family History

12. Epidemiology

13. Thalassemia • Thalassemia affects approximately 4.4 of every 10,000 live births throughout the world. • It causes males and females to inherit the relevant gene mutations equally because it follows an autosomal pattern of inheritance with no preference for gender. • Approximately 5% of the worldwide population has a variation in the alpha or beta part of the haemoglobin molecule , although not all of these are symptomatic and some are known as silent carriers. • In fact, only 1.7% of the global population has signs as a result of the gene mutations, known as a thalassemia trait.

14. Geographical Distribution

15. Prevalence of different population groups according to geographical area of the world Alpha-Thalassemia Beta-Thalassemia • America: 0-5% of the population has a thalassemia trait, up to 40% may be a genetic carrier • Eastern Mediterranean: 0-2% of the population has a thalassemia trait, up to 60% may be a genetic carrier • Europe: 1-2% of the population has a thalassemia trait, up to 12% may be a genetic carrier • Southeast Asia: 1-30% of the population has a thalassemia trait, up to 40% may be a genetic carrier • Sub-Saharan Africa: 0% of the population has a thalassemia trait, up to 50% may be a genetic carrier • Western Pacific: 0% of the population has a thalassemia trait, up to 60% may be a genetic carrier • Americas: 0-3% of population is affected by a gene mutation • Eastern Mediterranean: 2-18% of population is affected a gene mutation • Europe: 0-19% of population is affected a gene mutation • Southeast Asia: 0-11% of population is affected a gene mutation • Sub-Saharan Africa: 0-12% of population is affected a gene mutation • Western Pacific: 0-13% of population is affected a gene mutation

16. Related Mortality All types of thalassemia can be fatal in some cases, particularly when there are multiple gene mutations that affect the production of the globin chains. In 2013, 25,000 deaths were attributable to thalassemia, which was an improvement upon the 36,000 deaths recorded in 1990.

17. Demographics

18. How about AUSTRALIA? • Australia has shown that 6% of the patient population carries a clinically significant genetic abnormality. • The most common of these are • beta-thalassemia (3%). • alpha thalassemia (0.4%). • Approximately 60 prenatal diagnoses for the clinically significant combinations of these abnormal genes are performed annually in the 2 major centers of Melbourne and Sydney. • Of the 178 patients with beta-thalassemia major, sickle cell disease or beta-thalassemia in combination with HbE or HbS , only 5 are less than 5 years old, reflecting both the success of the screening program and the increasing acceptance by couples of 1st trimester prenatal diagnosis.

19. Doctors find cure for Thalassaemia , the world's most common genetic disorder. ABC news. • https://www.ncbi.nlm.nih.gov/pubmed/11400797 • Iron Health Alliance: http ://www.ironhealthalliance.com/disease-states/thalassemia.jsp • Inherited Disorders of Hemoglobin: http ://files.dcp2.org/pdf/DCP/DCP34.pdf • Health-Disease.org: http ://www.health-disease.org/blood-disorders/thallasemia.htm • http://www.ironhealthalliance.com/disease-states/thalassemia/epidemiology-and-pathophysiology.jsp • http://www.who.int/bulletin/volumes/86/6/06-036673/en/ • https://www.ncbi.nlm.nih.gov/pubmed/25530442 • https://www.slideshare.net/Thalassaemia_Intl_Fed/current-situation-in-control-strategies-and-health-systems-in-asia-malaysia Reference

20. Mueller, Robert F, Ian D. Young, and Alan E. H. Emery.  Emery's Elements of Medical Genetics . 13 th ed. Edinburgh: Churchill Livingstone; 2007. p152-162. Familydoctor.org. Thalassemia [Internet]. [cited 2018 April 25]. Available from: https ://familydoctor.org/condition/thalassemia / Natural Health News. Thalassemia Symptoms, Causes, Risk Factors, Complications, Diagnosis and Treatment [Internet ]. [cited 2018 April 25]. Available from: https://www.natural-health-news.com/thalassemia-symptoms-causes-risk-factors-complications-diagnosis-and-treatment / Reference

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