Background: THALASSEMIA is a common inherited anemia,and population-level SCREENING followed by molecular evaluation is the most effective way to prevent it. Given the significance of beta-THALASSEMIA minor and its prevalence in communities, this study aimed to identify the prevalence of beta-THALASSEMIA minor among participants in the pre-marital SCREENING program in Birjand City, located in South Khorasan province, Iran. Methods: The study included individuals who underwent pre-marital testing between 2014-2019 and were categorized as high-risk for beta-THALASSEMIA based on their blood indices and medical diagnosis. Data on their blood indices and follow-up results were collected from Birjand City's health center using a pre-designed form. The data were analyzed using statistical tests to assess significance. Results: Out of 35, 801 couples who underwent premarital testing, 195 (390 individuals) were identified as the high-risk group for beta-THALASSEMIA. Among these high-risk couples, 67. 2% responded to iron therapy. THALASSEMIA prevalence was 9. 7% among high-risk couples, 31. 6% among individuals at actual risk, and 76% among those who underwent Prenatal Diagnosis (PND). The mean values of MCV, MCH, and Mentzer indices were significantly higher in the group that responded to iron therapy compared to the group eligible for PND. Conclusion: It was demonstrated that the prevalence of beta-THALASSEMIA carriers among marriage applicants attending the health center in Birjand City is currently low. However, the implementation and continuity of beta-THALASSEMIA SCREENING programs for couples in this region can effectively prevent the birth of infants with THALASSEMIA major and prevent unexpected medical treatment expenses.

Introduction. THALASSEMIA major is one of the most common hemoglobin disorders in the world. The geographic distribution of THALASSEMIA has been known for many years. Diagnosis of THALASSEMIA minor in people who want to marry with each other is the key for preventing of THALASSEMIA major. SCREENING test for THALASSEMIA minor has been started from some years ago in Iran, but there are still some new cases of major-thal syndromes annually, and we want to investigate for the cases.Methods. 54 new cases of THALASSEMIA major, born from 1998 to 2002, referred to Saied AI Shohada Hospital, were evaluated for the etiology of thalasseinia. Results. According to these documents, 34 cases had not been screened, and except two, all of them were related to marriage before starting SCREENING program in Isfahan. From the 20 cases that were screened, there were 10 falts negative, and one sickle-trait. From the 9 remainder cases, 5 cases refuse for prenatal diagnosis, and 3 cases that prenatal diagnosis confirm THALASSEMIA major but refuse for abortion, and one falts negative PCR report.Discussion. According to this data, we suggest it is necessary to do close observation for laboratory unit of SCREENING center, to extend work shop program for staff of these centers. and complement this SCREENING program with sickle cell SCREENING according to WHO guidelines for the control of hemoglobin disorders.

Background: THALASSEMIA SCREENING instructions in Iran consider couples with MCV = 75-80, MCH = 26-27, HbA2<3.5, and HbF<3 indices as low-risk couples, and therefore further genetic testing is not obligatory. If the blood indices of alpha THALASSEMIA carriers (One alpha gene deletion or two alpha gene deletions) fall within the parameters of low-risk couples, the identification of such couples within the beta THALASSEMIA SCREENING program will not be feasible. However, if the blood indicators of alpha THALASSEMIA carriers fall within the range of the suspected high-risk couple, these couples can be identified through beta THALASSEMIA SCREENING instructions. Methods: In this cross-sectional study, information was extracted from 2359 individuals diagnosed with alpha THALASSEMIA, identified between 2018 and 2021, in 22 marriage counseling centers in Isfahan province using the results of the PND test. The blood indices MCV and MCH of alpha THALASSEMIA carriers were compared with the low-risk and high-risk values of beta THALASSEMIA carrier couples. Findings: The average MCH and MCV of couples affected by alpha THALASSEMIA gene deletions 1 and 2 are respectively within the low-risk and high-risk ranges for beta-THALASSEMIA. Conclusion: Beta THALASSEMIA SCREENING guidelines can effectively identify individuals with two alpha THALASSEMIA gene deletions, although they have no effect in identifying those with one alpha gene deletion. Current guidelines indicate that it is possible to prevent the occurrence and complications of pregnancy in mothers with Bart's hemoglobin infants; however, the identification of H hemoglobin disease remains unfeasible.

Background and Aim: THALASSEMIA major (ThM) is one of the most common autosomal recessive genetic disorders in the world. Its prevention and control is a priority in the disease prevention programs in the Iranian health system. The ThM SCREENING program (SCREENING at the time of marriage) has been an important step in its prevention in Iran. This study aimed to evaluate this program.Materials and Methods: This was a descriptive-analytical study in Babosar District consisting of two phases. The first phase was a retrospective descriptive study aiming at finding the background causes of the diseases in subjects under 18 years old (born after March 1997). In phase 2, then, in an interventional analytical study, SCREENING was repeated along with laboratory tests before, or at the beginning of, pregnancy (n=5500).Results: Phase 1 (cross-sectional descriptive): There were 25 cases of ThM under 18 years old, parents of 15 of whom (60%) had married before 1997 and 4 (16%) had children suffering from ThM (S2). The parents of the remaining 10 (40%) had married after 1997 (S1).Phase 2: Considering the findings of Phase1, an interventional program called THALASSEMIA SCREENING was started in September 2006 including 9750 pregnant or prepregnanct mothers. The program led to identifying 20 new beta-THALASSEMIA-carrier couples, including 10 couples married before 1997 and 10 married after 1997 (without official marriage registration, laboratory errors and hemoglobinopathies). All the 20 couples were quickly referred to the Genetic Center, which resulted in prevention of the birth of 4 ThM neonates.Conclusion: The 9-year intervention (2006-2015) resulted in timely action, preventing birth of 4 THALASSEMIA major babies. Considering incidence of the disease during the previous 9 years (1997-2006), it can be concluded that the before-after randomized clinical trial is an effective way to reduce THALASSEMIA major incidence.

About 7.5% of the population carrier β -THALASSEMIA geve in Sistan & Baluchestan province, indicating a high prevalence in this region.Several babies are born with severe THALASSEMIA every year in this area, Requiring a considerable financial maintenance cost. To evaluate and set a simple valid index for mass SCREENING of THALASSEMIA, this cross- sectional analytical study was performed. Atotal of 2964 male students studying in final years of their secondary school located all over the province, were subjected to the CBC test in 1376 (1997), using culture counter. Those with MCV<80FL were selected for the study and they were subsequently examined for the presence of HbA2in their blood. The persons with HbA2≥ 3.5 were considered as having minor THALASSEMIA and those with HbA< 3.4 considered to have iron deficiency.The results showed 397 persons with MCV <80FL, consisted of 182 minor THALASSEMIA and 178 cases of iron deficiency. The mentzer index (MCV/RBC) was tested in all individuals with MCV<80, those with the ratio of ≤13 were suspected to have minor THALASSEMIA. The mentzer index and HbA2 were compared in this group. Thirty-seven low MCV cases disrupted their co-operation and the study, therefore, was continued with 360 subjects. The data analysis revealed true positive minor THALASSEMIA in 164, false positive in 99, true negative in 79, and false negative in 36 cases. The sensitivity and specificity of the test were 80% and 44%, respectively. The findings showed that the measurment of the mentzer index can be used as a cost beneficial simple test for a primary SCREENING of minor THALASSEMIA broadly in Sistan & Baluchestan province.

Background: Beta-THALASSEMIA minor and THALASSEMIA major are an autosomal recessive disease with hypochromic, microcytic anemia, and morbidities, Today, therapeutic advances have significantly improved the life expectancy of THALASSEMIA major patients, but at the cost of financial toxicity. The present study aimed to investigate the possibility of increasing the funding for THALASSEMIA SCREENING programs and comparing the cost-effectiveness of SCREENING for THALASSEMIA in the treatment of the patients. Methods: In this study, SCREENING for THALASSEMIA minor was compared with the treatment of THALASSEMIA major patients. A decision tree model was used for analysis. A hospital database, supplemented with a review of published literature, was used to derive input parameters for the model. A lifetime study horizon was used and future costs and consequences were discounted at 3%. The approach of purchases of services was used to evaluate the SCREENING test costs for patients with THALASSEMIA major. Also, a bottom-up method was applied to estimate other SCREENING and treatment costs. All the costs were calculated over one year. The number of gained quality-adjusted life years (QALYs) was calculated using the EQ-5D questionnaire in the evaluated patients. Results: In this study, 26. 97 births of patients with THALASSEMIA major were prevented by SCREENING techniques. On the other hand, total SCREENING costs for patients with THALASSEMIA major were estimated equal to US$ 879 879, while the costs of preventing the birth of each thalassaemia major patient was US$ 32 624 by SCREENING techniques. In comparison, the cost of managing a patient with THALASSEMIA major is about US$ 136 532 per year. The life time QALYs for this is 11. 8 QALYs. Results are presented using a societal perspective. Incremental cost per QALY gained with SCREENING as compared with managing thalassaemia major was US$ 11 571. Conclusion: SCREENING is a long-term value for money intervention that is highly cost effective and its long-term clinical and economic benefits outweigh those of managing thalassaemia major patients.

Background: Beta-THALASSEMIA is one of the most common genetic diseases in Iran. Iran has about 20, 000 Patients who are homozygote for b-thalassaemia and 3, 750, 000 carriers. This research was conducted to determine the prevalence of minor b-thalassaemia based on RBC indices in 1000 men under marriage referred to Quchan (north east of Iran) city health center.Methods: This research is a descriptive cross-sectional study. From 2010 to 2011, all men (1000) who intended to get married coming to health center of Quchan underwent routine mandatory tests. Subjects were considered to have beta-THALASSEMIA trait if they had MCV<80 fl and MCH<27 pg and a hemoglobin A2 level>3.5%. Venous blood was taken into an EDTA tube and the complete blood count and red blood cell indices were measured with a Coulter automated cell counter on the same day of hemoglobin collection. Electrophoresis was performedon cellulose acetate. Forall men, red cell indices were checked. If MCH<27 pg or MCV<80fl were found, hemoglobin A2 concentrations were measured. Three ml ofblood for laboratory studies was collected. Sysmex KX-21N was usedfor cell counting. For determination of Hb A2, manual kit bio system bycolumnChromatography was used.Statistical analysis Findings: The mean age of study group was 23.5±2.5 years. The level of Hemoglobin in Most of them was 14 gr/dl (62.6%), the level of MCV in most of them was 90 Fl (73.61%).39.17% had MCH at level of 28 pg and 45% had MCHC at level of 30 g/dl. Mean and SD of hemoglobin, MCV, MCH were 16±2.9, 91±4 and 28.4±2, respectively. Hemoglobin A2 more than 3.5 percent was reported as 3.5%. MCH ³8 pg, MCV³1fl and hemoglobin A2£3.4 % were found in 90.5%, 89 % and 96.5 % of patients.Conclusion: The frequency of couples with high-risk of having a sibling with homozygous hemoglobinopathy was 0.01%. The prevalence of beta-THALASSEMIA trait and sickle cell anemia trait was quite low and reflects the frequency in eastern and northern Anatolia and migration to Kocaeli from these geographic regions.