[Prevalence of common point mutations of alpha globin gene in Babol, Iran [2005-09]]

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. This descriptive study was carried out on DNA of 153 adult suspected to alpha-thalasemia with deleted alpha-golobolin gene referred to genetic laboratory in Babol, Iran during 2005-09. alpha 1 and alpha 2 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 H[2]O[2]. 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. Point mutation in alpha globin genes was detected in%53.60 out of 153 adults suspected with alpha thalassemia without common deletion mutations

study of relationships between beta-globin gene mutations in beta-thalassaemia patients, in response to hydroxyurea treatment

Beta-thalassaemia is the most frequent inherited disorder in the world, especially in Iran and Mazandaran Province. It is caused by mulation in beta-globin gene on chromosome 11 with more than 150 different mulations causing beta-thalassaemia, has been identified in the beta-globin gene to date. Hydroxyurea, is one of the drugs used in Thalassemia patient's treatment, however, it is not effective in all patients. The mechanisms of the hydroxyuea effect in not clear yet. This study compared different beta-globin gene mutations in beta-thalassaemia patients who were referred to the Thalassemia Research Center in Sari in two groups, good responder and non-responder, to the hydroxyurea. This was a case-control study, comparing two groups of 30 thalassaemic patients who received hydroxyurea. Two groups were included, 30 good responders to hydroxyurea treatment [control] and 30 who did not respond to the treatment [case]. First, DNA was extracted from peripheral blood. Then, two different methods for mutation detection were used. In the Thalassaemia Research Center in Sari, mutations in 60 patients were identified using ARMS-PCR. Also the results were confirmed in Genetic laboratory of Amirkola, using two mutation detection methods, reverse-dot blot hybridization and ARMS-PCR. In the group of good responder [control], the average patient's age were 28/1 +/- 7/78 years, and the average age at the onset of blood transfusion was reported to be 8/5 +/- 8/56 year. In this group, the mean comparison of the hemoglobin level and red blood size [MCV] prior and after drug consumption were statistically significant. In the group of non-responder [case], the mean age was 21.3 +/- 6.43, the mean age starting blood transfusions was 3.3 +/- 3.75, and the mean of drug consumption was 2.3 +/- 0.8 months. From the mutations identified, IVSII-1G>A was the most common type in both case and control group, while of 30 of control group, 22 individuals were homozygous, and 7 individuals were heterozygous for this mutation [frequency% 42.5]. For the 30 case patients, 11 individuals were homozygous, while 11 were heterozygous [frequency% 27.5]. Comparison between two groups, case and control group, were statistically significance [P < 0.008]. The correlations of IVSII-1G>A mutation in good responder patients to hydroxyurea as compared to the non responder group, is significant and similar to the previous findings

[ burden of disease and injury in Iran in the year 2003]

Disability-Adjusted Life Years [DALY] summarizes the fatal and nonfatal outcomes of diseases and injuries in one number and gives a quantitative assessment of the health of a population. Estimating the burden of diseases and injuries in Iran in terms of DALY both nationwide and in 6 provinces. We used slightly modified versions of the methods developed by the World Health Organization for estimating the burden of premature mortality, disability, and the DALY. The DALY rate per 100,000 was 21572 and 62% of this was life lost due to premature mortality; the remaining 38% was due to disability from diseases and injuries. Fifty-eight percent of the total DALYs had been lost due to non-communicable diseases, 28% due to external causes [injuries], and 14% due to communicable, maternal/ perinatal and nutritional illnesses. The group of diseases and injuries with the highest burden in males was intentional and unintentional injuries [2.789 million DALYs], while in the female population this position was held by mental disorders with 1.191 million DALYs. The single most important cause of burden was traffic accidents in males and ischemic heart disease in females. Disease burden showed considerable variability between different provinces. The profile of health and disease in Iran has generally shifted from the predominance of communicable, maternal/perinatal, and nutritional illnesses towards predominance of non-communicable diseases and injuries at the national level. These figures on disease burden at population level are the most objective evidence that can be used in policy making and management of health programs, health research, and resource development within the health sector

[ frequency of SspI polymorphism in intron II of beta globin gene in Mazandaran province]

Due to the high annual birth rate of thalassemia major in our country, its prevention by prenatal diagnosis is of important priority. Gene mutation remains unknown in 10-20% of thalassemia trait people in Iran. In these cases, linkage analysis using polymorphic sites which are located near or within the gene is necessary to follow the mutant or the normal chromosome. SspI polymorphic site which is studied for the first time in Iran is located in the second intron of beta globin gene. The aim of this study was to determine the polymorphism frequency of this site in Mazandaran province. Peripheral blood of 211 thalassemia trait patients living in Mazandaran province was collected. After DNA extraction and amplification of the beta globin gene region containing the SspI polymorphic site, the effect of SspI restriction enzyme was evaluated on agarose gel. In 422 analyzed chromosomes, 20.6% were negative for SspI polymorphic site. Negative sites were almost equally associated with normal and mutant alleles [11.9% and 14.3% respectively]. SspI site analysis can be applied to follow the normal or mutant alleles of beta globin gene

[Evaluation of Jensen procedure in patients with complete sixth nerve palsy]

To evaluate the results of Jensen procedure in correction of ocular deviation in patients with complete sixth nerve palsy. Hospital records of patients with complete sixth nerve palsy who underwent Jensen procedure at Khalili Hospital of Shiraz during 1993-2002 were studied and results of the operation were evaluated. Of 18 patients including 14 male and 4 females, 19 eyes were operated on. Cause of the condition was head trauma in 83.5% of the patients. Average horizontal deviation in primary position was 48 prism diopter esotropia before and 2.6 esotropia after the operation. After the procedure, 78% of the patients had