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Background and Objective: Alpha thalassemia is one of the most common hemoglobin disorders. Some combination of alpha globin gene mutations may cause HbH disease with severe anemia or intermediate thalassemia. genotype common deletions are routinely tested for suspicious alpha thalassemia couples but because of lack of information about the nature and frequency of point mutations and higher expenosor of sequencing, less attention was paid to them. This study was done to determine the prevalence of common point mutations of alpha globin gene in Babol, Iran.

Materials and Methods: This descriptive study was carried out on DNA of 153 adult suspected to α-thalasemia with deleted α- golobolin gene referred to genetic laboratory in Babol, Iran during 2005-09. a1 and a2 genes were amplified by using specific biotinilated primers by PCR method. PCR products were assayed using 11 specific probs corresponding to common point mutations in alpha gene (C19, IVSI (-5nt), C59, Hb constant spring, Hb Icaria, Hb seal Rock, IVSI (148), C14, poly A (-2bp), poly A2, Poly A1) and fixed on byodine C membrabe. Hybridization between the probes and PCR products was visualized after a colorimetric reaction using of conjugated streptavidin peroxidase and TMB (tetra methyle Benzidine) and H²O².

Results: The prevalence of point mutations in poly A2, 5nt, Hb constant spring and poly A1 were 28.75%, 14.38%, 7.84% and 2.61%, respectively.

Conclusion: Point mutation in alpha globin genes was detected in %53.60 out of 153 adults suspected with alpha thalassemia without common deletion mutations.

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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.