Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Introduction: ß-Thalassaemia is the most common genetic disorder and is considered as a major public health concern in Iran. Different countrywide studies have shown a heterogeneous mutational basis of ß-thalassaemia with different frequencies in each area. This study is aimed at investigating the common and rare mutations in Mazandaran and Golestan, northern provinces of Iran. Methods: 5425 microcytic and hypochromic individuals were investigated from Mazandaran and Golestan provinces. From these, 1323 beta carrier or affected individuals were selected where 938 persons were from Mazandaran and 385 people were from Golestan province, respectively. Result: 53 different mutations were identified, IVSII-1 (G>A) was the most common (59.14%) followed by Cd 22/23/24 (-7 bp) (5.34%), Cd 8 (-AA) (4.93%), Cd30 (G>A) (4.00%), and IVSI-5 (G>C) (3.70%) with a total of 77.11% in Mazandaran Province, respectively. In Golestan Province, IVSI-5 (G>C) was the most frequent (44.62%) followed by IVSII-1 (G>A) (27.18%), Cd 15 (TGG>TAG) (4.36%), Fr 8/9(+G) (3.85%), and Cd 8(-AA) (2.05%) with a total of 82.06%, respectively. From the 53 different mutations, 22 numbers have been observed in both provinces. Two deletions of the beta gene named Sicilian and Asian-Indian have been detected in Mazandaran with a frequency of 0.72% each. Conclusion: The 53 different mutations identified in this study were the most ever reported mutations in the country. Due to diversity of different ethnic groups, there are many varieties of mutation in beta globin gene in Iran. It could be assumed that both founder effect and natural selection caused by migration from neighboring areas have complemented each other to produce the high frequency of unique alleles within each region.

A Qualitative Study Exploring the Experiences of Mothers Caring for Their Children with Thalassemia in Iran.

Background: Mothers of children with thalassemia usually experience many sufferings and challenges in caring of their children. The present study aimed to explore the experiences of mothers caring for their children with thalassemia. Methods: In this qualitative study, 14 mothers caring for their children with thalassemia in Hamedan and Babol Cities, Iran were selected using purposeful sampling, from December 2019 to August 2020. Data were collected through semi-structured face-to-face interviews. Graneheim and Lundman's approach of conventional content analysis was used for data analysis. Results: After data analyzing, four themes, including physical distress, psychological suffering, hellish life, and self-negligence, as well as nine categories, including the mother's physical problems, physical weakness, confusion, painful emotions, restless life, involvement in a painful caring process, turmoil in the family, neglect of one's health, and disregard for the occurrence of psychosomatic illnesses, were extracted. Conclusion: Our findings provide a broad range of context-specific challenges that mothers of thalassemic child faced during caring of their children that can affect different aspects of their life and health. Thus, mothers of children with thalassemia need various types of support such as social, emotional, and informational support during caring process of their children.

Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran.

BACKGROUND: It is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha-thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha-globin mutations in potential carriers with hypochromic and microcytic anemia from Mazandaran, in northern Iran. METHODS: A total of 859 subjects were selected; genomic DNA was extracted and examined for the presence of mutations in the alpha-globin genes. RESULTS: Mutation analysis of alpha-globin genes revealed 27 different mutations. Seven variants were seen in 91.45% of all alpha-1 and alpha-2 mutations among patients in this study. The 3.7 kb deletion is the most frequent mutation with a frequency of 49.53%, followed by PolyA2 (15.19%), -4.2 deletion (8.76%), --MED (5.84%), IVSI-5nt deletion (5.49%), Hb constant spring (3.62%), and Cd 19 (-G; 3.04%), respectively. There are also seven new variants which were reported for the first time either in alpha-1 or alpha-2 genes, including codon 9 (C > A; α2), deletion of codon 60 (AAG deletion; α2), duplication of codon 94-100 plus 3 base pairs of intron 2 (IVSII + 3; α1), codon 99 (C > A; α2), codon 108 (A > G; α2), codon 128 (A > T; α2), and codon 129 (T > G; α2), respectively. The MLPA method also revealed three rare and novel deletions in alpha-cluster region with about 30 kilobases long. CONCLUSION: This study showed an efficient identification of α-thalassemia can be achieved using standard hematological indices in our population. The details of these variations will help local genetic services for diagnostic and prenatal diagnosis services.

Obesity and iron-deficiency anemia in women of reproductive age in northern Iran.

BACKGROUND: Obesity and iron deficiency (ID) are two forms of the most usual nutritional disorders worldwide. Some studies have discovered a correlation between ID and obesity although more investigation is required. This study was aimed to determine the association between obesity and ID anemia (IDA) in Iranian childbearing age women. MATERIALS AND METHODS: This cross-sectional study was done on 256 women of reproductive age in northern Iran. The anthropometric measurements including height and weight were measured, and body mass index (BMI) was calculated. Low blood index of the hemoglobin (Hb), mean cell volume (MCV), and mean corpuscular hemoglobin (MCH) were evaluated with ferritin, serum iron, and total iron-binding capacity. Baseline data were expressed as means ± standard deviations. Chi-square test was applied to compare the categorical variable. Differences between the two groups were evaluated with independent samples t-test. A value of P < 0.05 was considered as statistically significant. RESULTS: Obesity was in urban women higher than rural women (55.1% vs. 44.9%), and this difference was significant (P < 0.021). There was found no association between hematological characteristics and BMI. The data showed that only 13.4% of obese women and 17.1% of the women with normal weight had IDA (odds ratio = 0.75; 95% confidence interval: 0.39-1.49, P > 0.05). CONCLUSIONS: According to the results of this study, it seems that the relationship between obesity and IDA is controversial. Hence, further studies are needed to be done.

Association between Toxoplasma gondii exposure and paediatrics haematological malignancies: a case-control study.

The possible association between Toxoplasma gondii infection and paediatric haematological malignancies in a group of patients and control subjects was evaluated in the present study. We performed an age-, gender- and residence frequency-matched case-control study of 101 blood cancer patients under 18 years of age, all of which were treated in Amirkola Pediatric Hospital. One hundred and thirty-eight control samples were gathered from the outpatient clinic in the hospital. All cases and controls were tested for the presence of anti-Toxoplasma IgG antibodies and then IgG-positive subjects were evaluated for IgM antibodies by enzyme-linked immunoassays. Anti-T. gondii IgG antibodies were found in 37 (36.6%) of the cases and 12 (8.7%) subjects in the control group (odds ratio 6.07, 95% confidence interval 2.963-12.437, P < 0.0001). The median and interquartile range (IQR) of IgG titre from case group (7.7 (IQR 0.25-13.5)) was higher than the control (0.2 (IQR 0.1-0.5)) (P < 0.0001). The frequency of anti-T. gondii antibodies (IgG) in lymphoblastic leukaemia (acute lymphoblastic leukaemia), Hodgkin's lymphoma and T-cell lymphoma were 33 (31.9%), 3 (50%) and 1(100%), respectively. Anti-T. gondii IgM was not detected in the IgG-positive patients in case group. In the case subjects, no significant difference was seen in the positive rates of T. gondii infection between genders (37.3% in male; 35.7% in female; P = 0.52) and ages groups (P = 0.31). This study demonstrated that T. gondii infection is prevalent in children with blood cancer. It also showed that toxoplasmosis may possibly be linked with an increased risk of childhood haematologic malignancies. Furthermore, these results may be helpful in research on blood neoplasia aetiology.

Evaluation of tissue doppler echocardiography and T2* magnetic resonance imaging in iron load of patients with thalassemia major.

BACKGROUND: Iron-mediated cardiomyopathy is the main complication of thalassemia major (TM) patients. Therefore, there is an important clinical need in the early diagnosis and risk stratification of patients. The aim of this study was to evaluate the efficacy of tissue doppler imaging (TDI) to study cardiac iron overload in patients with TM using T2* magnetic resonance (MR) as the gold-standard non-invasive diagnostic test. METHODS: A total of 100 TM patients with the mean age of 19±7 years and 100 healthy controls 18.8±7 years were evaluated. Conventional echocardiography, TDI, and cardiac MRI T2* were performed in all subjects. TDI measures included myocardial systolic (Sm), early (Em) and late (Am) diastolic velocities at basal and middle segments of septal and lateral LV wall. The TM patients were also subgrouped according to those with iron load (T2* ≤ 20 ms) and those without (T2* > 20 ms), and also severe (T2* ≤ 10 ms) versus the non-severe (T2* ≤ 10 ms). RESULTS: Using T2* cardiovascular MR, abnormal myocardial iron load (T2* ≤ 20 ms) was detected in 84% of the patients and among these, 50% (42/84) had severe (T2* ≤ 10 ms) iron load. The mean T2* was 11.6±8.6 ms (5-36.7). A negative linear correlation existed between transfusion period of patients and T2* levels (r = -0.53, p=0.02). The following TDI measures were lower in patients than in controls: basal septal Am (p<0.05), mid-septal Em and Am (p<0.05), basal lateral Am (p<0.05), mid-lateral LV wall Sm (p<0.05) and Am (p<0.05). CONCLUSION: Tissue doppler imaging is helpful in predicting the presence of myocardial iron load in Thalassemia patients. Therefore, it can be used for screening of thalassemia major patients.