FST does not have the required sensitivity for newborn screening and QEA is recommended as the preferred method.

Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα(anti3.7) triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia.

Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia. Case Presentation. A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found. Conclusion. This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases.

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Background and Aim: Patients with thalassemia major are classified in high risk group for diabetes mellitus, and therefore monitoring blood glucose level has a vital importance in these people. As high fetal hemoglobin level in thalassemia patients interferes with measurement of glycosylated hemoglobin (hemoglobin A 1C), fructosamine evaluation as an alternative approach is suggested. Materials and Methods: This descriptive study was carried out on 33 diabetes mellitus patients with betathalassemia (21 female and 12 male cases). The following biochemical measurements were done: blood glucose level through biochemical glucose oxidation method, fructosamine by colorimetry, hemoglobin A 1c by immunoturbidimetry, serum ferritin by chemiluminescence and fetal hemoglobin by HPLC methods. Using SPSS software v18.0, statistical analysis was done and correlation between fructosamine and hemoglobin A 1c (Pearson's correlation) and linear regression were investigated. p<0.05 was considered as statistically significant. Results: In female and male patients, blood glucose levels were 204±103 mg/dL and 224±101 mg/dL (p=0.63), fetal hemoglobin were 9%±7% and 13%±9% (p=0.22); serum ferritin levels were 1744±1534 ng/mL and 3253±1773 ng/mL (p=0.96), respectively. Mean serum fructosamine level was 442±124 mmol/L and glycosylated hemoglobin amount was 8.9%±1.8%. These two parameters showed significant correlation (r=0.69, p<0.01). Blood glucose level with hemoglobin A 1c (r=0.75, p<0.01) and fructosamine (r=0.54, p<0/01) showed a significant correlation. Conclusion: In diabetic patients with thalassemia major who have frequent blood transfusion, evaluation of serum fructosamine and glycosylated hemoglobin levels are both reliable approaches for estimating blood glucose levels and the two methods can be used alternatively.