Complications of patients with hematologic malignancies in a selected Iranian population.

Background: Hematologic malignancies in childhood and their treatments can cause dental anomalies and jaw bone abnormalities; therefore, the aim of this study was to assess the prevalence of these disorders in children. Methods: This cross-sectional study was conducted on all children diagnosed with hematologic malignancies that referred to in Amirkola Children's Hospital from 2011 to 2018. All of children underwent clinical evaluation in a Dental Radiology Clinic and panoramic imaging was performed. The radiographs were examined for dental anomalies and jaw bone abnormalities. The data were analyzed by descriptive analysis using chi-square, Mann-Whitney and Kruskal-Wallis with a 95% confidence interval. Results: The study population consisted of 32 children and 9.46% of these patients showed intraoral signs in clinical evaluations. Panoramic radiographs indicated dental anomalies in 12 (63.9%) and jaw bone abnormalities in 17 (89.4%) patients. The most common dental anomaly and bone abnormality were taurodontism and changes in lamina dura, respectively. By measuring the mandibular cortical index (MCI), it was revealed that 13 had osteopenia, in which 4 of them had severe osteopenia (osteoporosis). The statistical analysis demonstrated that there was a significant difference between the incidence of osteoporosis and changes in lamina dura with the gender (p<0.05). Conclusion: Due to early onset of osteopenia and osteoporosis and the presence of dental and bone abnormalities in half of study population, early assessment of their clinical and radiographic condition can be helpful in the prevention and the early treatment of their oral complications.

Salivary Oxidative Stress, Total Protein, Iron and pH in Children with ß-Thalassemia Major and their Correlation with Dental Caries.

Statement of the Problem: Iron overload in ß-thalassemia major leads to oxidative damage to tissues, which may have an important role in the onset and progression of oral diseases. Purpose: The aim of this study was to evaluate the salivary oxidative stress indicators, total protein, iron, and pH in children with ß-thalassemia major and their relationship with the status of dental caries in comparison with healthy children. Materials and Method: In this case-control study, 68 ß-thalassemia major and healthy children, who were age- and sex matched, were selected. Two mililiters of saliva was collected from each child. The pH was measured using pH meter paper. Thiobarbituric acid reactive substances (TBARS) as salivary lipid peroxidation index, total antioxidant capacity (TAC), total protein, and iron were measured by spectrophotometry. Data were analyzed by SPSS ver. 22 software with Pearson and independent samples t-test. Results: TBARS, TAC, iron and dmft index in the ß-thalassemia major group were significantly higher and pH was significantly lower than the control group (p< 0.001). The total protein difference between the two groups was not significant (p= 0.081). Conclusion: Considering the higher salivary TBARS in the ß-thalassemia major group, oxidative stress can be considered as a risk factor for dental caries in children with ß-thalassemia major. Prescription of antioxidant supplements especially natural antioxidants in the diet of children with ß-thalassemia major is recommended to reduce oxidative stress.

Complications of patients with thalassemia major and intermedia in a selected Iranian population.

Background: Due to anemia in thalassemia major (TM) and thalassemia intermedia (TI) patients, bone changes occur, especially in the broad bones like jaw and skull, which are the main sites of hematopoiesis. Therefore, the dentist should be aware of the disease to prevent complications. The aim of this study was to evaluate the radiographic findings of the jaw and teeth in TM and TI patients and to compare the two groups. Methods: 50 TM patients and 50 TI patients in Amirkola Thalassemia Center, whose thalassemia were definitively diagnosed by a hematologist, were selected as the study group and the control group consisted of 50 healthy individuals. In patients` panoramic radiographs, dental anomalies (microdontia, root shortening etc.) and bone disorders (bone marrow hyperplasia, maxillary sinus invisibility etc.) were assessed. A p<0.05 was considered. Results: Dental anomalies were (42.84%) in TI patients and (23.46%) in the control group, the difference was significant. Dental anomalies in TM patients were (38.76%) and in the control group (23.46%) and a significant difference was observed (p<0.001). Bone disorders were (47.94%) in TI patients and in the control group (32.64%). Bone disorders in TM patients were (44.88%) and in the control group was (32.64%) that showed a significant difference. Conclusion: This study showed that in thalassemia patients, bone and dental disorders frequency were higher than healthy individuals. Bone disorders were also more common than dental anomalies. Dental and bone disorders were more common in TI.

COVID-19 and renal involvement in children: a retrospective study.

Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multiorgan dysfunction. There is insufficient data about kidney involvement in children. So, this study was done on children with COVID-19 to evaluate nephrological involvement. Methods: All children with confirmed or suspected COVID-19 who were admitted in Children Hospital .were enrolled. They were admitted in hospital from March 2020 to July 2020. Serum Blood Urea Nitrogen (BUN), creatinine, sodium, potassium, calcium and urinalysis were evaluated. Also, glomerular filtration rate (GFR) was calculated by Schertz's formula. All patients were evaluated by chest x-ray and/or computerized tomography scanning (CTS). The data were analyzed by SPSS software and P value less than 0.05 was determined as significant. Results: Forty-seven children with confirmed or suspected COVID-19 were enrolled to this study. At admission, 23.4% and 27.7% of children with COVID-19 infection had abnormal increase in serum BUN and creatinine, respectively. Also 78.8% and 25.5% of children had GFR less than 90 and 60 ml/min /1.732, respectively. Additionally, 13/47 (27.7%) of children had abnormal urine analysis (microscopic hematuria and/or proteinuria). There wasn't a significant relationship between pulmonary lesions and abnormal reduction of GFR (P<0/05). Conclusion: In the study, the risk of AKI (acute kidney injury) and decrease of GFR and also abnormal urinalysis is high in children with COVID-19. So, more attention for detection of kidney involvement is necessary and more conservative management for prevention of AKI and decrease of GFR are recommended.

The psychosocial challenges of mothers of children with thalassemia: A qualitative study.

BACKGROUND: Caring for the children suffering from thalassemia is a stressful experience with various aspects making the mothers face various challenges. Thus, the present study aimed to explain the psychosocial challenges of mothers with thalassemia children based on their lived experience. MATERIALS AND METHODS: In this qualitative study, which was conducted using the phenomenological method, 14 mothers with thalassemia children were selected from two thalassemia treatment centers in Hamadan and Babol (Iran) in 2020 using the purposive sampling method. Data were collected using in-depth and semi-structured interviews and were analyzed by van Manen's phenomenological methodology. RESULTS: In the first stage of data analysis, 534 initial codes were extracted, which were reduced to 290 by comparison and integration. The primary themes turned into 24 secondary themes after clustering. By comparing the secondary themes, three main themes (i.e., "psychological distress," "bodily burnout," and "mothers' need to empathy and support") with 7 secondary themes (i.e., "emotional exhaustion," "mental strain," "social stigma," "acute psychosomatic reactions," "long-term psychosomatic consequences," "expectation of family support," and support needs outside the family) were extracted. CONCLUSION: The results indicated that mothers with thalassemia children experience several challenges in various aspects. Therefore, they require care interventions and psychosocial support.

The anticancer effects of curcumin via targeting the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway.

The mammalian target of rapamycin (mTOR) is a protein kinase that has been considered as a key regulator of a large number of cellular processes, including cell growth, proliferation, differentiation, survival, and motility. Overactivation of mTOR (especially mTORC1) signaling is related to oncogenic cellular processes. Therefore targeting mTORC1 signaling is a new promising strategy in cancer therapy. In this regard, various studies have shown that curcumin, a polyphenol produced from the turmeric rhizome, has anti-inflammatory, antioxidant and anticancer properties. Curcumin may exert its anticancer function, at least in part, by suppressing mTOR-mediated signaling pathway in tumor cells. However, the exact underlying mechanisms by which curcumin blocks the mTORC1 signaling remain unclear. According to literature, curcumin inhibits insulin-like growth factor 1 (IGF-1)/phosphoinositide 3-kinase (PI3K)/Akt/mTORC1 pathway which leads to apoptosis and cell cycle arrest via suppression of erythroblastosis virus transcription factor 2 and murine double minute 2 oncoprotein. In addition, activation of unc-51-like kinase 1 by curcumin, as a downstream target of IGF-1/PI3K/Akt/mTORC1 axis, enhances autophagy. Curcumin induces AMP-activated protein kinase, a negative regulator of mTORC1, via inhibition of F0F1-ATPase. Interestingly, curcumin suppresses IκB kinase ß, the upstream kinase in mTORC1 pathway. Moreover, evidence revealed that curcumin downregulates the E3-ubiquitin ligases NEDD4, neural precursor cell-expressed developmentally downregulated 4. NEDD4 is frequently overexpressed in a wide range of cancers and degrades the phosphatase and tensin homolog, which is a negative regulator of mTORC1. Finally another suggested mechanism is suppression of MAOA/mTORC1/hypoxia-inducible factor 1α signaling pathway by curcumin.

Epidemiological features of nosocomial candidaemia in neonates, infants and children: A multicentre study in Iran.

Nosocomial bloodstream candidaemia is a life-threatening fungal infection with high morbidity and mortality, especially among paediatric patients undergoing intensive immunosuppressive therapy. Limited data on the epidemiology of candidaemia and susceptibility profiles are available for Iran. To characterise candidaemia epidemiology, comorbidity risk factors, species distribution, and antifungal susceptibility profiles among paediatric patients in Iran. This observational cross-sectional study enrolled 26 189 patients <18 years old at three reference paediatric hospitals in Mazandaran and Tehran over 2 years. Blood samples from patients with suspected fungal bloodstream infection were analysed using the BACTEC culture system. Fungal isolates were identified using matrix-assisted laser desorption ionisation time-of-flight mass spectrometry (MALDI-TOF) and DNA sequencing. Antifungal susceptibility testing was performed using the Clinical and Laboratory Standards Institute broth microdilution guideline. We observed 109 episodes of nosocomial candidaemia in paediatric patients with or without immunosuppressive therapy. The most common healthcare-associated factor was central vascular catheter use (97%). The all-cause mortality rate was 40%, of which 48% was attributable to candidaemia. While Candida albicans was the most frequent causative agent (49%), emerging and uncommon Candida species were also isolated. Candidaemia mortality by non-albicans Candida species was significantly higher than that by C. albicans (P < .05). All fluconazole-resistant species were non-albicans Candida species. Uncommon Candida species with reduced susceptibility to antifungals are emerging as major agents of nosocomial candidaemia in high-risk paediatric patients in Iran. Appropriate source control, antifungal regimens and improved antifungal stewardship are warranted for managing and decreasing the burden of nosocomial candidaemia.

Candidemia due to Candida guilliermondii in an immuno-compromised infant: a case report and review of literature.

BACKGROUND AND PURPOSE: Candidemia is a life-threatening fungal infection with significant mortality and morbidity in neutropenic individuals, immunosuppressive chemotherapy recipients, and broad-spectrum antibiotics consumers. The epidemiology and antifungal susceptibility testing of non-albicans Candida species have been poorly studied. These species are characterized by low susceptibility to azoles and echinocandins. Herein, we report the first pediatric case of candidemia due to C. guilliermondii in Iran and review the literature on fungemia caused by C. guilliermondii. CASE REPORT: We presented the first candidemia case due to C. guilliermondii in a 4-month-old male infant with neuroblastoma in Iran. This study also involves a comprehensive literature review on fungemia caused by C. guilliermondii during a period of 18 years (i.e., 2000-2018) to discuss the epidemiology, clinical features, and treatment of this disease. The literature review resulted in the identification of 501 cases of candidemia caused by C. guilliermondii. Most of the patients were adults and had multiple risk factors. However, the main risk factors were significantly related to cancer chemotherapy, followed by central venous catheter use and Intensive Care Unit admission. Mortality rate due to this disease had a range of 3.4-66.6%, in this regard, the patients with cancer had the highest mortality rate. CONCLUSION: Given the high mortality of candidemia, the early diagnosis of this infection and timely initiation of antifungal therapy significantly improve the patients' survival rate and result in better outcomes. Consequently, it is highly recommended to monitor the local epidemiology of this life-threatening infection and raise awareness in this regard.

Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with ß-Thalassemia Intermedia.

Thalassemia is a hereditary disease with an autosomal recessive inheritance pattern resulting in reduced production of globin chains. Mutations in modifier genes can cause or affect thalassemia. Krüppel-like factor 1 (KLF1) is a modifier gene that was investigated in this study. Thirty-five Iranian ß-thalassemia (ß-thal) minor patients with hematological symptoms including Hb A2 3.0%, mean corpuscular volume (MCV) <75.0 fL, mean corpuscular hemoglobin (Hb) (MCH) <25.0 pg, and two ß-thal intermedia (ß-TI) patients in 50 subjects who carried no mutations on the HBB and HBA2 or HBA1 genes were investigated for all exons of the KLF1 gene by polymerase chain reaction (PCR) and sequencing methods. Of the 35 patients with a ß-thal minor phenotype, one patient was heterozygous for the c.544T>C mutation in exon 2 of KLF1 and HBB: c.380T>G variant, Hb Dhonburi [also known as Hb Neapolis or codon 126 (T>G)]. The c.340T>C mutation was also found in exon 2 of the KLF1 gene with an allele frequency of 16.6% in the studied ß-thal carriers. The two ß-TI patients were homozygous for a new mutation c.942delA in exon 3 of KLF1. Mutations in modifier genes can cause or affect thalassemia. Therefore, exact investigation of globin genes and modifiers such as KLF1 is necessary in areas where globin gene disorders are most prevalent to understand the reason of clinical and hematological symptoms of thalassemia and facilitate newborn screening or prenatal diagnosis (PND) programs.

First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C).

α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (HBA1: c.298A>T) associated with a α2-chain variant Hb Fontainebleau (HBA2: c.64G>C) in a family from northern Iran. The case is a 23-year-old man with hypochromic microcytic anemia that requested for prenatal diagnosis. The combination of α1-globin mutation and Hb Fontainebleau can cause clinical and hematologic features of thalassemia. This combination also highlights the important heterogeneity of alpha thalassemia in this part of the world.

An investigation of the effects of curcumin on iron overload, hepcidin level, and liver function in ß-thalassemia major patients: A double-blind randomized controlled clinical trial.

This study investigated the effects of curcumin, the active polyphenol in turmeric, on iron overload, hepcidin level, and liver function in ß-thalassemia major patients. This double-blind randomized controlled clinical trial was conducted on 68 ß-thalassemia major patients. The subjects were randomly divided into 2 groups to receive either 500 mg curcumin capsules (total: 1,000 mg) twice daily or placebo for 12 weeks. Dietary intakes and biochemical variables including hemoglobin, transferrin saturation, total iron binding capacity, nontransferrin bound iron (NTBI), ferritin, hepcidin, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) were assessed at the beginning and end of the trial. Curcumin significantly reduced serum levels of NTBI (2.83 ± 1.08 compared with 2.22 ± 0.97 µmol/L, p = .001), ALT (42.86 ± 11.15 compared with 40.60 ± 9.89 U/L, p = .018), and AST (49.45 ± 12.39 compared with 46.30 ± 10.85 U/L, p = .002) at the end of the study. Based on analysis of covariance, a significant decrease was also observed in levels of NTBI (2.22 ± 0.97 vs. 2.55 ± 0.94 µmol/L, p = .026), ALT (40.60 ± 9.89 vs. 45.01 ± 10.42 U/L, p = .004), and AST (46.30 ± 10.85 vs. 50.99 ± 9.36 U/L, p = .009) in curcumin group in comparison with placebo group. There were no significant changes in hepcidin and other variables in any of the 2 groups. Curcumin administration alleviated iron burden and liver dysfunction by reducing NTBI, ALT, and AST levels in patients with ß-thalassemia major.

Relationship between ß-Thalassemia minor and Helicobacter pylori infection.

BACKGROUND: Until now, no study has been reported investigating the association between ß-thalassemia minor and Helicobacter pylori (H. pylori) infection. This study was designed to compare H. pylori infection rate between ß-thalassemia minor patients and healthy controls. METHODS: A number of 100 ß-thalassemia minor patients (50 males, 50 females) and 100 gender-matched healthy controls were prospectively recruited in this study in a period of 3 months. The study population consisted of the people who referred to a health center in Babol, North of Iran, for premarital counseling. H. pylori status was assessed by measuring the anti-H. pylori IgG antibodies using enzyme-linked immunosorbent assay. Demographic information and informed consent were collected from all participants. RESULTS: The overall H. pylori infection rate was 43%. The infection was significantly more prevalent in thalassemia patients (53%) than in the controls (33%) in both univariate (OR=2.29, 95% CI: 1.3-4.06) and multivariable analyses (OR=2.05, 95% CI: 1.12-3.76). Age was the only significant factor which was positively correlated with the infection in ß-thalassemia minor cases (OR=1.11, 95% CI: 1.02-1.2). Gender, blood groups, residency, and education level were not related to the infection. CONCLUSIONS: According to the results, it can be concluded that ß-thalassemia minor patients are possibly more susceptible to H. pylori infection than healthy people. Further studies are needed to discover more about the exact mechanisms of increased susceptibility to H. pylori infection in ß-thalassemia minor patients.

Benefits of Curcumin Supplementation on Antioxidant Status in ß-Thalassemia Major Patients: A Double-Blind Randomized Controlled Clinical Trial.

BACKGROUND: ß-Thalassemia major, the most common inherited anemia in the world, is associated with imbalance in the oxidant-antioxidant system. The objective of this study was to evaluate the efficacy of curcumin supplementation on markers of oxidative stress in patients with ß-Thalassemia. METHODS: This double-blind randomized controlled clinical trial was performed on 61 ß-thalassemia major patients. Subjects in the curcumin group received two 500 mg curcumin capsules daily and patients in the placebo group took 2 placebo capsules daily for 12 weeks. Dietary intakes and biochemical parameters were assessed at the beginning and the end of intervention. RESULTS: At the end of the study, serum malondialdehyde (MDA), total and direct bilirubin significantly decreased (p = 0.002, p < 0.001, and p < 0.001, respectively) and total antioxidant capacity significantly increased (p = 0.005) in the curcumin group. Based on the analysis of covariance, a significant reduction in MDA, total and direct bilirubin was also detected in the curcumin group when compared to the placebo group (p = 0.001, p = 0.039, and p = 0.013, respectively). Changes in hemoglobin, serum iron, ferritin, catalase, and vitamin E were not significant in any of the 2 groups. CONCLUSIONS: Curcumin supplementation in combination with deferoxamin improved the antioxidant status in ß-thalassemia major patients. Curcumin may be useful for the relief of metabolic complications in these patients.

A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran.

α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing. Of the nine different mutations found, the most frequent were -α3.7 (rightward deletion) (45.6%), polyadenylation site (αp°lyA2α) (α2) (AATAAA>AATGAA; HBA2: c.*92 A>G) (15.27%), - -MED (Mediterranean deletion) (6.86%), -α4.2 (leftward deletion), (6.17%), αCSα [Hb Constant Spring (Hb CS) (HBA2: c.427 T>C)] (4.62%), -α-5 nt (HBA2: c.95+2_95+6delTGAGG) (3.70%). All chromosomes bearing an α-globin point mutation [αp°lyA2α, -α-5 ntα, αCSα, αp°lyA1α (AATAAA> AATAAG; HBA2: c.*94 A>G)] showed only one haplotype that was present in most normal chromosomes, while the -α3.7 deletion was associated with three distinct haplotypes. Our results indicate that α-thal mutations are heterogeneous and -α3.7 and αp°lyA2α are the most prevalent mutations in this region. The presence of -α3.7 with three different haplotypes suggests an older history for this mutation. The high prevalence of αp°lyA2α in Mazandaran Province, Iran compared to other parts of the country and the world, suggests a founder effect. Altogether, we here provide further data confirming the heterogeneity of the northern population of Iran. These data may contribute to the establishment of a national mutation database, more accurate genetic counseling and prenatal diagnosis (PND).

Comparing the Efficacy of Tadalafil Versus Placebo on Pulmonary Artery Systolic Pressure and Right Ventricular Function in Patients with Beta-Thalassaemia Intermedia.

BACKGROUND: Conventional oral therapies in the management of pulmonary hypertension in people without haemoglobinopathies are of limited value in thalassaemia patients because of toxicity and poor effectiveness. This study was conducted to assess the effect of tadalafil on pulmonary artery pressure and right ventricular systolic function in patients with beta-thalassaemia intermedia. METHODS: Forty-four patients with beta-thalassaemia intermedia with pulmonary hypertension based on transthoracic echocardiography (TTE) were entered in the study. Patients with hepatic or renal insufficiency and also patients who were treated with organic nitrates or alpha-blockers were excluded. The patients were randomly divided into two groups (n=22) and they were treated for six weeks with tadalafil (40mg daily) or placebo. The pulmonary artery systolic pressure (PASP), tricuspid regurgitation velocity (TRV) and parameters related to systolic function of the right ventricle were measured by the TTE before and after treatment. RESULTS: Significant improvement in TRV (3.02±0.02 m/s-2.52±0.06 m/s), PASP (45.31±0.66 mmHg-34.26±1.15mmHg) and parameters related to systolic function of the right ventricle were observed in the group who received tadalafil compared to placebo (p< 0.05). CONCLUSIONS: Tadalafil significantly decreased PASP and TRV in patients with beta-thalassaemia intermedia. Likewise, tadalafil improved right ventricular systolic function in the patients.

Isolated thrombocytopenia; A report of a rare presentation of childhood systemic lupus erythematosus (SLE).

BACKGROUND: Systemic lupus erythematosus (SLE) has various presentations in children. Hematologic abnormalities is common in childhood onset of SLE, however, isolated thrombocytopenia is relatively rare. Thus, we present a child with isolated thrombocytopenia as a rare presentation of SLE. CASE PRESENTATION: A 12-year-old boy with chief complaints of loss of appetite, weight loss, decreased platelet count (8000/µL) and lymph node enlargement was referred to our hospital. Biopsy of lymph node showed reactive lymphadenopathy. Investigations regarding infectious disease was negative. Platelet count remained low after low dose steroidned therapy. Antinuclear antibody (ANA) and anti-double stranded DNA antibody screening tests were positive with titer of 1/62 and 1/54, respectively. Therefore, juvenile SLE was considered as the final diagnosis and raising the dose of prednisolone to 2mg/kg/day was associated with increasing platelet count to 40000/µL and a week later to 96000/µL. CONCLUSION: The findings of this study indicate that in cases with isolated thrombocytopenia refractory to conventional dose of steroids, SLE should be considered. This study justifies serum ANA and anti DNA assessment in children with thrombocytopenia.

A 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease.

α-Thalassemia (α-thal) is a common genetic disorder in Iran and many parts of the world. Genetic defects in the α-globin gene cluster can result in α-thal that may develop into a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia. Loss of one functional α gene, indicated as heterozygous α(+)-thal, shows minor hematological abnormalities. Homozygosity for α(+)- or heterozygosity for α(0)-thal have more severe hematological abnormalities due to a markedly reduced α chain output. At the molecular level, the absence of three α-globin genes resulting from the compound heterozygous state for α(0)- and α(+)-thal, lead to Hb H disease. Here we present a 21 nucleotide (nt) duplication consisting of six amino acids and 3 bp of intronic sequence at the exon-intron boundary, in both the α-globin genes, detected by direct DNA sequencing. This duplication was identified in three patients originating from two different Iranian ethnic groups and one Arab during more than 12 years. The clinical presentation of these individuals varies widely from a mild asymptomatic anemia (heterozygote in α1-globin gene) to a severely anemic state, diagnosed as an Hb H individual requiring blood transfusion (duplication on the α2-globin gene in combination with the - -(MED) double α-globin gene deletion). The third individual, who was homozygous for this nt duplication on the α1-globin gene, showed severe hypochromic microcytic anemia and splenomegaly. In the last decade, numerous α-globin mutations have demonstrated the necessity of prenatal diagnosis (PND) for α-thal, and this study has contributed another mutation as important enough that needs to be considered.

L-asparaginase induced hyperlipidaemia in acute lymphoblastic leukaemia.

OBJECTIVE: To evaluate hyperlipidaemia in patients with acute lymphoblastic leukaemia (ALL) receiving L-asparaginase. METHODS: A case-control study carried out between October 2007 and October 2010 with 77 patients undergoing chemotherapy at a teaching children's hospital in Babol, Iran. Patients were treated with anti-leukaemic agents according to the protocols for standard-risk and high-risk ALL. Those patients who received asparaginase represented the cases and those who did not receive it were the controls. Biochemical markers were checked during the induction phase chemotherapy. Lipid profile of patients was recorded. Data was analysed using SPSS 16. RESULTS: Of the 77 patients, 37 (48.05%) received asparaginase therapy and 40 (51.94%) patients did not.The mean peak triglyceride and cholesterol levels during asparaginase therapy in the first group were significantly higher than the levels in the second group. CONCLUSION: Severe hyperlipidaemia may be the cause of some morbidity in children receiving asparaginase. Asparaginase-induced hyperlipidaemia should be monitored in ALL patients during the induction phase of treatment.

Hematologic features of alpha thalassemia carriers.

Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features of patients with various types of α globin mutations. Hematological indices including red blood cells (RBC), hemoglobin concentration (Hb), mean cell volume (MCV), mean cell hemoglobin (MCH), Mean corpuscular hemoglobin concentration (MCHC) and percentage of Hemoglobin (HBA1, HBA2 and HBF) of seven-hundred and twenty two patients presenting ten different α-thal genotypes were considered. All patients showed reduced MCV and/or MCH values.Moreover, MCV and MCH were lower in patients with two functional alpha globin genes in comparison to patients with one mutated alpha globin gene (P value<0.001). In conclusion, MCV and MCH valuescan be helpful for the selection of the appropriate molecular tests to determine the genotype of alphathalassemia carriers.

Thyroid function in major thalassemia patients: Is it related to height and chelation therapy?

BACKGROUND: One of the most common endocrine problems in major beta-thalassemia is hypothyroidism (HT). The aim of this study was to evaluate thyroid function status in major ß-thalassemia patients older than 10 years old. METHODS: This cross sectional study was carried out on thalassemia major patients registered on Thalassemia Center of Amirkola Children Hospital in Babol. A questionnaire was filled out by the patients to evaluate the demographic information, quality of their last transfusions and chelation therapy. Growth parameters were evaluated. We assessed serum T4, TSH, T3RU and FTI in all patients and those with hypothyroidism, anti-thyroglobulin and anti-thyroid proxidase antibodies were checked Results: One hundred-thirty patients (56 males and 74 females) were enrolled in this study. The mean age was 20.95±7.8 years. Short stature was seen in 41(31.3%) patients. In 53(40.8%) patients, weight was under normal range. HT was found in 19 patients (14.6%); 2 primary overt HT, 3 secondary HT and 14 subclinical HT were detected. No patient with HT had significant serum level of anti-thyroid antibodies. Correlation between HT and serum ferritin level was not significant (p=0.584) but it was significant for HT and short statures (p=0.002), also regular transfusion and chelation therapy were correlated with ferritin level. CONCLUSION: High prevalence of HT among thalassemic patients signifies the importance of regular screening for evaluation of endocrine function in these patients; especially when short stature is present.