Thalassemic mutations in Southern Iran

Approximately 180 mutations have been described in beta-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of beta-thalassemia mutations in patients with beta-thalassemia trait and sickle cell-beta-thalassemia. Fifteen compound heterozygous sickle cell thalassemia [SCT] and 23 beta-thalassemia trait patients were studied using reverse dot blot, denaturing gradient gel electrophoresis and direct genomic sequencing. We detected distinct beta-thalassemia alleles in 15 compound heterozygous of SCT and 23 beta-thalassemia trait patients. The most common mutation was IVSII-1[G-A], found in 15 of the 38 thalassemia chromosomes. IVSII.1 [G-A] mutation is a single nucleotide change of G to A at intervening sequence 2 position 1 of beta-globin gene, detected in 11 out of 23 chromosomes in A/beta-thalassemic patients and in four out of 15 chromosomes of SCT patients. This mutation constituted about 39% of the mutations in both groups. The -25bp 3 IVSI, deletion of 25 base pairs from 3' end of intervening sequence 1 of beta-globin gene, was found to be the second prevalent mutation among all chromosomes. Defining thalassemia mutations are necessary to establish prenatal diagnosis programs leading to lower medical cost. Amongst 10 different types of mutation detected in beta- thalassemic patients from South of Iran, two mutations of IVSII-1[G-A] and -25bp 3 IVSI were the most predominant beta-thalassemic alleles

Beta-globin gene cluster haplotypes in Iranian patients with beta-thalassemia

Beta-globin gene cluster haplotypes are useful in diagnosis of particular molecular defects in Beta-thalassemia, prenatal diagnosis of Beta-thalassemia, and elucidating population affinities. Beta-globin gene cluster haplotypes were studied in 150 Beta-thalassemia minor and 52 healthy in-dividuals from the Fars province of Iran. DNA was extracted from leukocytes of whole blood by phe-nol-chloroform. Haplotype was determined by PCR-RFLP technique. There were 26 out of 150 with homozygous haplotypes. Haplotype I was found as the most prevalent haplotype among both patients and normal individuals. Out of 26 patients bearing homozy-gous haplotypes, 12 [46.2%] had typical haplotype I and 3 [11.5%] had atypical haplotype I. The prevalence of haplotype I in normal control subjects was around 43% [45 out of 104 Beta A chromo-somes]. The second prevalent haplotype was haplotypes V [15.4%] and III [15.4%] for homozygous patients and controls, respectively. The most frequent mutation in patients was IVS II.1 [G-->A] that was not linked to a single haplotype. IVS I.110 [G-->A] mutation was linked to haplotype I. Mutation in codon 30 [G -->A] was associated with haplotype V. Being Haplotype I the most prevalent haplotype in Beta-thal and BetaA chromosomes, implies that Beta-thalassemia mutations might have arisen in the chromosomal background common in the popula-tion, rather than due to selection pressure or gene flow [migration]. Patients with haplotype IX had the highest HbF levels compared to other haplotypes

Serum levels of sialic acid and neuraminidase activity in cardiovascular, diabetic and diabetic retinopathy patients

Sialic acid is a component of serum that is elevated in diseases such as diabetes and certain malignancies. The normal range of SSA concentration and serum neuraminidase activity in different populations are varied, probably due to racial differences. The purpose of the present study was to obtain the average SSA concentration and serum neuraminidase activity, in an Iranian population, and to show whether these indices could indicate the severity, and serve as risk factors, for diabetes and CVD. Serum sialic acid [SSA] concentration and neuraminidase activity were measured in 214 male and female patients and 150 normal individuals. The patient groups were composed of diabetics, diabetics with vascular disease and CVD patients. A mean +/- SEM value of 60.06 +/- 3.36 mg/100 ml for SSA and 50.82 +/- 2.93 mU/ml for serum neuraminidase activity were obtained in the randomly selected normal controls. SSA was significantly higher in the patient groups as compared to the values in the age and sex-matched controls. Increased SSA in the diabetics with vascular complications was significantly higher than that for diabetics without retinopathy. The serum neuraminidase activity was also increased in the patient groups. In contrast to the pattern for SSA levels, serum neuraminidase activity in the diabetic patients was not significantly lower than that for diabetics with retinopathy. While serum neuraminidase activity may serve as a factor which tends to increase in CVD, diabetic and retinopathic patients, it may not be as reliable as the SSA level which correlates the severity or monitoring of these diseases. However, it can be a useful index to be used along with SSA measurements

Effect of Garlic on some blood lipids and hmgcoa reductase activity

Triglyceride, total cholesterol, HDL cholesterol, LDL cholesterol, lipoprotein [a], free fatty acids and glucose levels were measured in the serum or plasma of 86 normal male human subjects, aged 25 to 50 years, before and after one month of garlic powder consumption [one 400 mg garlic tablet, 3 times daily]. Levels of total cholesterol, LDL cholesterol and triglycerides were significantly decreased after garlic consumption [by 10.7%, 11.5% and 14.2% respectively, p<0.05]. Furthermore, this decrease was significantly greater [p<0.05] for initial cholesterol levels of >200 mg/dl and triglyceride levels of >150 mg/dl/[14.7% and 15% respectively], and less pronounced for cholesterol levels of%200 mg/dl and triglyceride levels of% 150 mg/dl/[7.3% and 6% respectively]. The reduction in LDL cholesterol was also significantly greater [p<0.05] for initial levels of>135 mg/dl/[16.7%]as compared with levels of%135 mg/dl/[10.0%]. No significant differences existed in the levels of glucose, free fatty acids, lipoprotein [a] and HDL cholesterol measured before and after consumption of garlic. Measurements of cholesterol and triglycerides were also carried out in 15 normal male rats, weighing 250 to 300g, after receiving a diet containing 2.5% garlic powder for 10 days. Total cholesterol and triglyceride levels were significantly lower [p<0.05] in these rats as compared to a control group receiving regular stock powder without garlic. The specific activity of HMGCoA reductase in the liver microsomal fraction of 12 normal male rats receiving the garlic powder [2.5% of the diet] for 10 days,was also significantly decreased [p<0.05] as compared to a control group on the stock diet without garlic

Intestinal zinc absorption in iron-deficient women

To investigate the effect of iron deficiency on intestinal absorption of zinc, changes in serum zinc level 5 hours after ingestion of 100 mg zinc sulfate, considered as an index of intestinal zinc absorption, were measured in 50 iron-deficient women aged between 18 - 48 years. Thirteen normal individuals, with an age range of 20 to 24 years, were selected as controls. Zinc measurements were performed by atomic absorption spectrophotometry. Post-ingestion serum zinc levels were significantly lower in the iron - deficient women, although the per cent increase in zinc uptake was similar in patients and controls. The zinc level was significantly lower in patients before and after zinc ingestion, compared to the corresponding control levels. The results of high performance liquid chromatography [HPLC] measurements of serum vitamin A levels, similar to the zinc pattern, were significantly lower in the patients before and after zinc intake, compared to the corresponding controls, while serum vitamin E, measured by HPLC, remained unchanged in all subjects

Studies on twenty-two thalassemic patients from Fars province [Southern Iran]

In vitro synthesis of hemoglobin by reticulocytes from twenty-two patients [fourteen males, eight females] severely affected with thalassemia was carried out. These patients were randomly selected from Pars Province in Southern Iran. [14]C-labelled leucine was used and separation of the alpha, beta and gamma chains by chromatography on carboxymethyl cellulose in 8M urea is reported, The data show that all patients had beta-thalassemia with various degrees of severity, and that no alpha-thalassemia was encountered