Success of Iran beta thalassemia prevention program:

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2 Success of Iran beta thalassemia prevention program: SUBSTANTIAL REGRESSIVE TREND OF THE INCIDENCE RATE S.S Azimi. PhD in Epidemiology Ministry of health, Genetics Office

3 Thalassaemia prevention programme of Iran: developing steps

4 IR Thalassemia Prevention Program: developing steps

5 Step one: advocacy

6 2,800,000 carrier cases estimated More than 18, 000 Beta thalassemia patients recorded (Average expectation of life 20) Thalassemia in Iran:1997 Incidence rate: 1 to 1.2 affected cases/ 1000 live birth Majority of the cases live in the southern and northern provinces (but the disease is distributed all over the country)

7 Distribution of beta thalassemia in Iran at the beginning of the prevention program

8 History of Thalassemia prevention program in Iran Improve ment of health indices Better care for patients Escalating number of patients Escalating demands for care Starts of pilot program in several cities in high prevalent areas in sought and north of the country Govern ment supports for program s of care and preventi on Develop ment of a national preventi on program, 1997

9 Step Two: start of a national program

10 Thalassaemia prevention programme Strategies C O M P O N E N T S Surveillance Counselling Laboratory: Screening Diagnostics Education premarital screening Affected family screening Screening couples married before 1997 P R I N C I P L E S.Collecting data.following up cases.evaluating system.special team under continuous education responsible. Ethics of counselling severely emphasised P H C Infrastructure Genetics Office, Center for Disease Control (CDC), Ministry of Health & Medical Education.Selected labs with regular education Are responsible.quality control specially emphasised.annual education of health worker.annual education of at risk groups.continuous population information 22

11 Public education Screening tests Genetic counselling Steps of the screening MCV& MCH (in male) Normal Abnormal * MCV&MCH (in female) Normal Abnormal 1 2 Genetic counselling End of process Measuring HbA2 ( both) HbA2<3.5 HbA2>3.5 3 Haematologist consultant Genetic Diagnosis Normal Iron therapy & repetition tests No changes HbA2>3.5 DNA & β chain analysis Carrier couple 4 5

12 Step Three: challenging limitations

13 Challenges in starting point: Incomplete referral system (gaps between primary health care levels and speciality and superspeciality levels of the health system Inaccessible genetic counselling Difficulties in quality control (coverage) of distant areas Scarce and scattered molecular geneticists in the country

14 Iran Network of Genetics Counselling Centers 26

15 Iran Network of PND Centres

16 Main First achievements: Networks successfully formed 4- Network of Haematologist 3- Molecular genetic lab network 3th Level 2th Level PHC 2- Genetic Counseling network 1-Screening labs network linked to the PHC IR Health System

17 Prominent achievement

18 Screening results Year Couples Tested Definite carrier couples detected % of couples definitely at risk Couples at definite risk /1,

19 Incidence reduction results year case frequency Observed TM Effectiveness Observed expected births /10,

20 Joinpoint regression analysis of beta major thalassemia incidence rate, Iran's national prevention program: to analyze incidence rate trend of major beta thalassemia by applying joinpoint regression on the 17 years incidence data ( ) of thalassemia national prevention program.

21 Trend of annual incidence rate of major beta thalassemia in Iran,

22 Distribution of Thalassemia incidence in Iran: 2013 Caspian sea Incidence rate in Live birth <1

23 Trend of annual incidence rate of major beta thalassemia in two different cluster of Iran's provinces,

24 Step four: challenging remained incidence of thalassemia

25 Reasons for resisting a part of incidence to fall Too detailed and overwhelmed system in the area with high prevalence Complicated process of iron therapy to rule out the iron deficiency: need for shortening and to ease the process Interference of the (mild) alfathalassaemia with diagnosis of the beta carrier couples: need for precising of the cut points for diagnosis of the beta carrier couples Complicated socioeconomic situation in the area with resistance to fall of the remaining incidence Less recorded marriages Difficulty in accessibility Illegal immigration

26 Main successe:

27 Applying management model of thalassemia to other genetic and congenital programmes Development of the integrative comprehensive community genetic Programme of Community Genetics

28 Community Genetic Programme Table 2: priority genetic programmes planned and implemented in the context of community genetics, 2011 Main group Targeted Disease Control of Common Haemoglobinopathies Newborn Screening Control of Inherited Hemorrhagic Disorder Control of Congenital Disorders Control of Chromosomal Disorders Control of Neurodistrophic Disorders Control of Hereditary Hearing Loss and Deafness Control of Hereditary Blindness and Vision Loss Control of Genetic Determinants of Common Diseases Control of Hereditary Immunological Disorders Thalassaemia Sickle cell Disorder PKU G6PD Hereditary Metabolic Diseases Haemophilia A&B NTD Down Syndrome Duchene and Becker Newborn Screening RP Familial Cancers Cardiovascular Disorders and Diabetes Hereditary Immunological Disorders

29 Nonspecific Population Screening Sureillance screening rrefering Referee for Surveillance Specific Screening GC Referring Familial NCD at risks GP Referring to 2th level Referring to 3th level 41

30 Abo -Ali Sina (Avi Cina), great physician of Iran,1000 AD Mausoleum, Hamedan, Iran

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