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Background and Objective: Fanconi anemia is the most prevalent inherited aplastic anemia. Diagnosis based solely on the recognition of clinical symptoms is not reliable. This study was done to determine chromosomal aberrations in patients suspected with the risk of Fanconi anemia in the Eastern Azarbaijan province- Iran. Materials and Methods: This descriptive study was conducted on 20 patients in the Eastern Azarbaijan province-Iran. The cytogenetic method was used to determine type and number of chromosomal disorders. Results: Nine eight and nine patients had co-morbid anemia, platelet deficiency and 9 patients had hand and finger deformities, respectively. Using cytogenetic method, Fanconi anemia was confirmed in 5 (25%) of the cases. The percentage of mitotic abnormalities in the chromosomes without administration of mitomycin C varied between 5-30% in the cultures of the 5 affected and between 0-4% in the 15 unaffected patients with the administration of mitomycin C, the percentages were increased up to 35-78% and 0-20% in affected and unaffected patients, respectively. Conclusion: Fanconi anemia is confirmed precisely in 25% of suspected patients using cytogenetic method.

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Background and Objective: Repeated blood transfusion is the major treatment for patients with major thalassemia. However due to antigen encounters, it may initiate body reactions, including alloantibodies against red blood cell antigens. This study was done to determine the Prevalence of alloimmunization in major beta thalassemia patients in northern Iran. Method: This descriptive - analytic study was carried out on 218 thalassemic patients (100 males and 118 females) with average age of 22.5±7 years in northern Iran during 2010. Each sample was tested for the presence of Alloantibodies including C, Cw, Lea, E, Lua, Leb, K, Jkb, N, P1, D, Jka, M, S, Xga, e, Fya, s, c, Fyb, k, Kpa, Jsb, Lub and Coa. Results: Eighty eight cases (40.4% 95% CI: 33.9-46.9) were positive for the presence of alloantibodies. Alloantibodies against C, Cw, Lea red blood cell surface antigens were the most prevalent (40%). No significant correlation was found between emergence of alloantibody with the age of initial, frequency and duration of blood transfusion. Conclusion: Alloimmunization is a common observation in thalassemic patients and should be prevented by transfusing compatible blood.

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There is not comprehensive information available about the control, complications and treatment methods of factor VII deficiency. Online registry system called seven treatment evaluation registries (STER) has been created which investigated the disease as an international multi-center prospective observational project in order to provide information about the effect and immunity of available therapies. In this report, five patients with factor VII deficiency were diagnosed and registered in Golestan Province, Northern Iran, during 2010-11. All treatment protocol, demographic charectristic of patients were collected and registered in www.targetseven.org on the basis of STER´s protocol.

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Background and Objective: The national screening program for G6PD enzyme deficiency is not able to detect all affected neonates. This study was done to compare the fluorescent spot test (FST), decolorization test, and quantitative enzyme assay (QEA) for detecting G6PD enzyme deficiency in neonates. Methods: In this descriptive study, cord blood samples of 365 neonates were collected. Decolorization test, QEA and DNA test was done for each sample. All of the neonates were tested by FST as a part of national screening program on heel-prick blood sample collected on day 3–5 after birth. QEA was considered as the gold standard. According to QEA test results, neonates with <20% and 20–60% of mean normal enzyme activity were considered as total deficient and partial deficient, respectively. Results: Fluorescent spot test detected 13 male neonates with G6PD enzyme deficiency while decolorization test identified 18 male and 1 female neonates. Using QEA, 19 of male and 28 of female neonates with G6PD enzyme deficiency (26 cases with partial and 2 cases with total deficiency) were diagnosed. DNA analysis detected 34 female case as heterozygote and 14 male neonates as hemizygote for the disease. Conclusion: Fluorescent spot test do not have required sensitivity for screening of neonates with G6PD enzyme deficiency. QEA test is recommended to replace the fluorescent spot test in national screening program.

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Background and Objective: Deferoxamin is the current “gold standard” chelator in comparison with new chelators. Combined therapy of Deferiprone and deferoxamin reduces the cardiac iron overload in patients with major talassemia. This study was done to evaluate the effect of defriprone-deferoxamine on heart function in patients with major thalassemia. Methods: In this historical cohort study, 8 patients with major beta thalassemia treated by subcutaneous deferoxamine were randomly selected and LVEF (the rate of blood that exited from heart in each beat) and serum ferritin were measeared. The patients were treated by deferiprone (50-100 mg/kg/day) compained with dferoxamine (30-50 mg/kg as 3 times in a week). In the end of each year, LVEF and serum ferritin of patients were measured. Results: The ferritin level changed from 3243.12 in the first year to 2672.75 mg/kg at the end of third year. The mean of LVEF changed from 71.12% to 64.62 %. The correlation of serum ferritin and LVEF only at the end of third year was significant (P<0.05). Conclusion: Combined therapy of deferiprone-deferoxamine during 3 years reduces ferritin and LVEF in patients with major thalassemia.

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Background and Objective: Alpha Thalassemia is one of the most prevalent hemaglobinophaties worldwide. Alpha thalasseima patients may represent wide spectrum of symptoms ranging from asymptomatic to severe life threatening anemia. This study was done to assess the carrier frequency of alpha globin gene mutations among newborns in north of Iran. Methods: In this descriptive study, 412 cord blood samples of neonate from Amir Mazandari hospitali were randomly selected during 2012. Genomic DNA was extracted using phenol-chloroform method. Multiplex Gap- PCR and PCR-RFLP methods were applied in order to detect three common gene deletions, one triplication and one point mutation. Results: Total allelic frequency of investigated mutations was 0.0825. The -α3.7 deletion with allelic frequency of 0.0485 was the most prevalent mutation among 412 neonates. Allelic frequencies of -α4.2, αααanti3.7 triplication and α-5nt mutations were 0.0206, 0.0109 and 0.0024 respectively and -Med double gene deletion was not detected. Conclusion: Most mutated cases had single gene deletion that is asymptomatic while -Med double gene deletion was not detected among the neonates. Therefore, there is low probability of a child birth with Hb H disorder in the region.