High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes. In a few cases, the diagnosis was made by metabolic studies. Based on the MRI pattern, diagnosed patients were divided into cohorts A (hypomyelinating LDs) versus cohort B (Other LDs). The most recent LD classification was utilized for classification of diagnosed patients. For novel variants, in silico analyses were performed to verify their pathogenicity. Out of 680 registered patients, 342 completed the diagnostic evaluations. In total, 245 patients met a diagnosis which in turn 24.5% were categorized in cohort A and the remaining in cohort B. Genetic tests revealed causal variants in 228 patients consisting of 213 variants in 110 genes with 78 novel variants. WES and single gene testing identified a causal variant in 65.5% and 34.5% cases, respectively. The total diagnostic rate of WES was 60.7%. Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2-HGA-3.6%), mitochondrial leukodystrophies (12.6%), ion and water homeostasis disorders (7.3%; MLC-4.5%), peroxisomal disorders (6.5%; X-ALD-3.6%), and myelin protein disorders (3.6%; PMLD-3.6%) were the most commonly diagnosed disorders. Thirty-seven percent of cases had a pathogenic variant in nine genes (ARSA, HEXA, ASPA, MLC1, GALC, GJC2, ABCD1, L2HGDH, GCDH). This study highlights the most common types as well as the genetic heterogeneity of LDs in Iranian children.

QT Interval Changes in Children With Febrile Convulsion Compared With Healthy.

Introduction: Febrile seizure is a temperature-related seizure that affects the QT interval. The purpose of this study was to evaluate the changes in the QT interval caused by febrile convulsion (FC) compared with healthy children. Methods: This case-control study examined 180 children equally distributed between patients and controls. The study was conducted at the Ali Ebne Abi Talib Hospital in Zahedan City, Iran. The disease was diagnosed and confirmed based on standard definitions of FC. QT interval was measured by ECG and interpreted by a pediatric cardiologist, and collected data were analyzed using SPSS software, version 19 with a 0.05 significant level. Results: Among the ECG parameters, HR, R in aVL, S in V3, LVM, QTd, QTc, and QTcd were significantly different in children with FCs compared to their peers. From those who had abnormal QTd, FC children were more frequent which was not significant (χ2=1.053, P=0.248), while children with FC had significantly more abnormality regarding QTc (χ2=13.032, P<0.001) and QTcd (χ2=21.6, P<0.001). In children with FC, those who were less than 12 months had the highest level of HR which was not significant (χ2=4.59, P=0.101). Similar trends occurred for R in aVL and S in V3 that were higher in the age group >24 months (P>0.05). Children in the age group of >24 months had significantly had the highest LVM (χ2=52.674, P<0.001) and the other QT parameters were the same in FC children with different age groups (P>0.05). Conclusion: It is concluded that dispersion corrected QT, corrected QT, and dispersion QT changed significantly in children with FC in comparison with the healthy children with constant values in children with FC in different age groups. Highlights: Corrected QT, dispersion QT and corrected-dispersion QT changed in children with febrile convulsion.Among the children with abnormal dispersion QT, febrile convulsion were not seen more when children with febrile convulsion (FC) were more in abnormality levels of QTc and QTcd. Plain Language Summary: The study aimed to evaluate changes in electrocardiography parameters in children with febrile convulsion and found positive correlation.

Comparing Prophylactic Effect of Levetiracetam, Sodium Valproate, and Propranolol in Pediatric Migraine: A Randomized Clinical Trial.

Objectives: Epidemiologic studies point to an increased prevalence of migraine in children in recent decades. Migraine treatment involves acute and prophylactic therapy. Recently, such anti-epileptic drugs as Levetiracetam have been used to treat adult migraines. The present study aimed to compare the efficacy of Levetiracetam, Sodium Valproate, and Propranolol in preventing migraine headaches in children. Materials & Methods: In this clinical trial, children with migraine were randomly divided into three groups. Each group consisted of 13 children. Two groups were treated with Propranolol and Sodium Valproate, respectively. Another group (the case) was treated with Levetiracetam. The patients were assessed based on headache score, PedMIDAS, and headache frequency before and three months after the intervention. Finally, the data was analyzed using descriptive and analytical statistical methods. Results: Levetiracetam significantly reduced the headache severity (P=0.026), frequency (P=0.024), and PedMIDAS score (P=0.001) in children with migraine. However, no significant difference was found between the three groups. The percentage of patients who experienced pain relief was detected as 69.24%, 92.31%, and 30.76% in the Propranolol, Sodium Valproate, and Levetiracetam groups, respectively. Conclusion: This study concluded that Levetiracetam can be used as a migraine prophylaxis drug in children.

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

BACKGROUND: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. OBJECTIVE: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). METHODS: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. RESULTS: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with lower copy numbers of SMN2. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. CONCLUSIONS: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.

Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epileptic seizures, vision loss, progressive movement disorder, ataxia, and eventually death. Diagnosis is often delayed due to the rarity of the conditions. Results: Here, we report a case presenting with clinical features of CLN2, carrying a homozygous novel nonsense variant in TPP1 (NM_000391:c.C832T, (p.Q278*), rs1352347549). Moreover, we performed a comprehensive literature review regarding previously identified disease-causing TPP1 mutations and genotype-phenotype correlations. Conclusion: Depending on the type of mutation, different phenotypes are observed in patients with CLN2, suggesting that the severity of phenotypes is related to the genotype of the patients.

Effect of Self-Management Program on Health Status and Dyspnea in Patients with Chronic Obstructive Pulmonary Disease.

Background: Self-management is becoming increasingly important in patients with chronic obstructive pulmonary disease (COPD) as it is associated with improved clinical outcomes. The aim of this study was to determine the effect of a self-management program on health status and dyspnea severity in patients with COPD. Materials and Methods: This semi-experimental study was done on patients with COPD who were hospitalized at Ayatollah Kashani and Hajar hospitals from July 2017 to November 2019 in Shahrekord, Iran. Sixty patients with COPD were selected and completed three questionnaires, including a demographic questionnaire, COPD Assessment Test (CAT), and Dyspnea Scale (mMRC). The researcher educated the self-management skills to the intervention group, and the control group received routine care only. Three months after the intervention, the questionnaires were completed again by the control and intervention groups. Data were analyzed using descriptive and analytical statistics by SPSS version 24. Results: The results of this study showed that there was no significant difference in health status between the two groups before the intervention (p=0.827). Three months after the intervention, the health status score in the control and intervention groups were 20.93±5.00 and 18.00±5.18, respectively, which this difference was statistically significant (p=0.030). Also, at the beginning of the study, the difference in dyspnea score between the two groups was not statistically significant (p=0.593). However, three months after the intervention, the score of dyspnea in the control and intervention groups was 2.1±0.995 and 1.53±1.074, respectively, which this difference was significant (p= 0.038). Conclusion: This study showed that self-management intervention could improve the health status and reduce the dyspnea of patients with COPD.

Tunable broadband polarization converters based on coded graphene metasurfaces.

In this paper, two optimization algorithms (randomly initialized hill climbing and genetic algorithms) are considered to design broadband polarization converters based on coded metasurfaces. A pixeled graphene patch with an elliptic structure is proposed for the initial solution. Each pixel can be 1 and 0 which represents the presence and absence of the graphene. The initial guess tends to the optimum configuration after several optimization processes. Four broadband polarization converters are designed utilizing the optimization algorithms. By changing the chemical potential of graphene, the operation frequency of the polarization converters can be adjusted. Furthermore, the effects of relaxation time of graphene and incident angle on the polarization conversion bandwidth of the four designed structures are investigated.

Comparison of the Effect of High and Low Doses of Adrenocorticotropic Hormone (ACTH) in the Management of Infantile Spasms.

OBJECTIVES: Infantile spasms can have irrecoverable adverse effects on a child's brain. Adrenocorticotropic hormone (ACTH) is the most common first-line medication for the treatment of infantile spasms. However, the suitable dose and duration of treatment continue to be debated among specialists. Since high doses of ACTH, which are commonly used, can produce more side effects, lower doses are preferred. The aim of this study was to determine the effect and extent of complications caused by high and low doses of ACTH in children with infantile spasms. MATERIALS & METHODS: This clinical trial was performed on 32 infants with infantile spasms, aged 1.5-18 months. The subjects were divided into high- and low-dose ACTH groups. Treatment continued for two months. The therapeutic effects and complications were then compared over 18 months. RESULTS: The results indicated no significant difference between the groups in terms of the short-term prognosis of convulsions, final prognosis of patients with spasm relapse, EEG changes after treatment, and post-treatment development of hypertension. On the other hand, there was a significant difference in the frequency distribution of restlessness intensity and becoming Cushingoid, which were more frequent in the high-dose group. CONCLUSION: The results indicated that high- and low-dose ACTH are equally effective in controlling spasms, yet the low dose causes fewer side effects.

Fulminant and Diffuse Cerebral Toxoplasmosis as the First Manifestation of HIV Infection: A Case Presentation and Review of the Literature.

BACKGROUND One of the most common causes of central nervous system (CNS) opportunistic infections in immunocompromised patients is toxoplasmosis. It can cause focal or disseminated brain lesions leading to neurological deficit, coma, and death. Prompt management with optimal antibiotics is vital. However, the diagnosis of cerebral toxoplasmosis is challenging in infected individuals with human immunodeficiency virus (HIV). The possible diagnosis is based on clinical presentation, imaging, and specific serologic investigations. The diagnosis can be confirmed by histopathological examination and/or by finding nucleic material in the spinal cerebrospinal fluid (CSF) examination. CASE REPORT We present a review of the literature with a rare illustrative case of diffuse CNS toxoplasmosis as the first manifestation of HIV infection in a young patient. Brain MRI showed diffuse, ring-enhancing lesions, and significant midline shift. Decompressive hemicraniectomy for control of intracranial pressure and anti-infectious therapy were performed. CONCLUSIONS This should raise awareness that cerebral toxoplasmosis can occur in pediatric patients with HIV infection, and, more importantly, as the first manifestation of AIDS. Although the prognosis is often poor, early diagnosis and immediate treatment of this life-threatening opportunistic infection can improve outcomes.

Prevalence of Febrile Seizures in Children in Zahedan, South East of Iran.

OBJECTIVES: Febrile seizure is the most common seizure disorder in childhood and a common cause of hospitalization in hospitals. We aimed to investigate the prevalence of febrile seizures in children in Zahedan, south-east of Iran. MATERIALS & METHODS: In this cross-sectional study, 600 children under 7 yr were examined for positive history of febrile seizure in 2014. The cluster sampling method was used, information was collected using a questionnaire, and data were expressed using descriptive- analytical tests. RESULTS: The mean age of the children was 2.7±1.8 year. The sample consisted of 290 (48.3%) boys and 310 (51.7%) girls. Of the 600 children studied, 21 experienced febrile seizure and the incidence of febrile seizures was 3.5%. No significant difference was observed in terms of age or gender. Among the patients with history of febrile seizure, 2 (9.5%) had a positive family history of seizure. The age at the first febrile seizure was under one year in 13 patients (61.9%) and over one year in 8 patients (38.1%). CONCLUSION: Results indicated a moderate incidence of febrile seizure in the studied population. No significant difference was observed in terms of age or gender.

Comparison of Effectiveness of Topiramate and Diazepam in Preventing Risk of Recurrent Febrile Seizure in Children under Age of 2 Years.

OBJECTIVE: Febrile seizures are the most common type of convulsions. Medicinal prophylaxis is sometimes used for children at high risk of recurrent febrile seizure. In certain circumstances, conventional drugs such as diazepam and phenobarbital cannot be used and the need for alternative medicines is felt. This study compared the effectiveness of topiramate and diazepam in preventing the risk of recurrent febrile seizure in children under 2 yr old. MATERIALS AND METHODS: This randomized controlled trial, in Besat Hospital in Hamedan, Iran from 22 Nov 2013 to 22 Nov 2015 (Registered code: IRCT Number: IRCT2015010120527N1), included 54 patients, at risk of recurrent febrile seizure, inhibited from taking phenobarbital. Samples were randomly divided into two groups. The first group received diazepam treatment during fever episodes and the second group received daily dose of topiramate. A one-year follow-up of recurrent febrile seizure and its complications was also conducted. RESULTS: Thirty-four patients (17 patients in each group) completed the one-year course of the trial. Recurrent febrile seizure was not observed in the course of preventive treatment. The prevalence of minor complications was 29.4% in the diazepam group and 48.5% in the topiramate group. No major complication was observed in among the subjects. CONCLUSION: Topiramate can be recommended for preventing recurrent febrile seizure when the use of frontline medicines is not possible.

Comparison of the Effect of Phenobarbital versus Sodium Valproate in Management of Children with Status Epilepticus.

OBJECTIVES: Acute prolonged seizure is the most common neurological emergency in children. This research was conducted to compare the effect of intravenous phenobarbital and Sodium valproate in control of seizure in children with status epilepticus, referred to emergency ward from Mar to Nov 2013. MATERIALS & METHODS: In this randomized clinical trial, registered with the code number IRCT2015051722300N1, 80 children aged 6 months to 10 years with prolonged seizure and with no response to one dose of diazepam (0.2 mg/kg) administered through IV injection during the five min were selected. Children were randomly divided into two groups, intervention, and control through permutation blocks. In intervention group, intravenous Sodium valproate (20 mg/kg) and in control group, intravenous phenobarbital (20 mg/kg) were prescribed. Data such as age, gender, history of previous seizure, seizure type, and recovery time after receiving drug was recorded in the form. Data analysis was done through descriptive statistics, Chi-square and Independent t- test. RESULTS: Two groups were the same in terms of age and gender and had no statistically significant difference, but they were different in terms of seizure type. In valproate group, 18 patients (45%) and in phenobarbital group, 32 patients (80%) had positive response to the treatment and the chi-square test showed the significant difference. CONCLUSION: With regards to this point that in phenobarbital group, patients had more rapid response to drug in comparison with patients in Sodium valproate group, phenobarbital is a suitable and effective drug for controlling of seizure in children.

Chronic Myelogenous Leukemia Presenting with Facial Nerve Palsy in an Infant.

When a child presents with cranial nerve palsy and a bulging fontanel, a pediatric neurologist is often consulted to determine the cause of increased intracranial pressure. This report describes an infant with chronic myelogenous leukemia (CML) referred to Ali-bin-Abitaleb Hospital, Zahedan, eastern Iran in 2013 who presented with seventh cranial nerve palsy and bulging fontanel. Chromosomal analysis and peripheral blood smear confirmed the diagnosis of CML.

Molecular genetic study of Calpainopathy in Iran.

INTRODUCTION: Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies (LGMDs) caused by mutations in the CAPN3 gene. CAPN3 is a Ca2+-dependent cystein protease consisting of 821 amino acids. LGMD is a highly heterogeneous disorder and mutation identification of this disease by Sanger sequencing of all genes is expensive and time consuming. Using autozygosity mapping is an effective approach to address this issue. METHODS: We used two sets of multiplex STR (Short tandem repeat) markers linked to CAPN3, DYSF, SGCA, SGCB, SGCG, SGCD genes following sequencing of the CAPN3 gene. In silico analysis and mutation detection in one hundred ethnically matched healthy individuals were carried out to determine the pathogenicity of novel mutations. Sequence variant interpretation was performed using the American College of Medical Genetics and Genomics (ACMG) guideline. RESULTS: Sixteen out of 50 families linked to the CAPN3 gene. In this study, mutations were found in 14 out of 16 families including 4 novel (c.1894A > T, c.567delG, c.2254-2256delAAC, and c.2373C > T) and 9 previously reported mutations consisting of 5 missense (c.2105C > T, c.2243G > A, c.1714C > T, c.291C > A, c.956C > T), 3 splice site (c.2380 + 2 T > G, c.946-2A > G, c.380G > A), and one indel (c.2257delinsAA) mutations. DISCUSSION: The c.2105C > T was found to be the most frequent mutation in this study. The results of this study revealed that most cases with splicing, frame shift and nonsense mutations experienced more severe clinical manifestations. Nonetheless, this should be confirmed by further studies on larger sample size.

Bone Metabolism Disorder in Epileptic Children.

OBJECTIVE: There are frequent anti-epileptic drugs used in management of epilepsy. Anti-epileptic drugs may have some complications on bone and vitamin D metabolism. This study aimed to comparison the bone metabolism disorder in epileptic children with healthy child in Zahedan, eastern Iran from Jul 2014 to Jun 2015. MATERIALS & METHODS: This case-control study was performed on bone metabolism disorder in epileptic children between 2014-2015. Forty epileptic children were enrolled based on accessibility scheme and 40 participants randomly selected for control group from those referred to the pediatric ward and clinic of Ali Ebn Abi Talib Hospital and Ali Asghar Clinic in Zahedan City, Sistan & Baluchestan Province, eastern Iran. Blood samples were collected from all participants to assess serum calcium, phosphorus, parathyroid hormone, magnesium, vitamin D, serum albumin, creatinine random urine. RESULTS: Of 40 epileptic children, 23 (57.5%) and 17 (42.5%) were male and female respectively, The prevalence of lower mean vitamin D levels was 37.5% for patients compared to 12.5% for controls (chi-square=6.667 and P=0.010). Of 80 participants, 15 individuals had abnormal PTH levels detected of 2 and 13 for patients and control groups, respectively (chi-square =9.928 and P=0.002). Serum calcium and magnesium levels were comparable in both groups. The status of the parameters in the classification of normal and abnormal assessed based on number of medications intake resulted that number of medications intake had no effect on the status of the parameter. CONCLUSION: The frequency of hyperparathyroidism and vitamin D deficiency is increased in epileptic children.

The Effect of Preoperative Zintoma Capsule on Postoperative Nausea and Vomiting After Laparoscopic Cholecystectomy.

BACKGROUND: Postoperative nausea and vomiting (PONV), as one of the complications after laparoscopic cholecystectomy, occurs in over 40% - 77% of cases. Considering the numerous complications of synthetic drugs, there is a growing tendency towards the use of herbal medicines due to their unique features. Ginger root is one of the herbal compounds effective on nausea and vomiting. OBJECTIVES: The aim of this study was to evaluate the effect of preoperative Zintoma capsules on PONV after laparoscopic cholecystectomy. METHODS: In this quasi-experimental study, 130 eligible patients were randomly assigned to intervention (n = 65) and control (n = 65) groups using the four-block method. The intervention group received two capsules of 500 mg and one of 250 mg Zintoma. The control group received three placebo capsules. The severity of patients' PONV was recorded at 0, 2, 6, 12, and 24 hours after surgery using a checklist and a standard VAS instrument. Data were analyzed using t-test, Chi-square test, and LSD Post Hoc test (ANOVA) in SPSS 19. RESULTS: The severity of PONV and vomiting was significantly different between the two groups (P = 0.001) at the above time points. The mean severity of nausea (by VAS) changed in the intervention group from 7.92 ± 1.28 to 0.33 ± 0.67 and in the control group from 8.00 ± 1.20 to 2.11 ± 1.55. The postoperative vomiting was less frequent in the group receiving the Zintoma capsules. The postoperative use of chemical anti-vomiting and nausea drugs was significantly lower in the intervention group than in the placebo group (P = 0.001). CONCLUSIONS: Zintoma capsules can be used as a supportive treatment in the prevention of nausea and vomiting by reducing the incidence rate of PONV.

Prevalence of G6PD deficiency in Children with Hepatitis A.

Introduction: Hepatitis A virus is the most prevalent viral hepatitis. It is globally a major public health problem with different clinical symptoms. This study aimed at investigating the clinical findings and prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in children with hepatitis A. Materials and Methods: In this prospective study, demographical information, clinical findings, and G6PD level of hepatitis A patients, who were visited at Pediatric Hematology clinic, were entered into the database. The diagnosis of hepatitis A infection was based on the presence of anti-HAV IgM antibody. The activity of G6PD enzyme was measured with florescent spot test. Results: Of the 117 children with hepatitis A, 52 (44.4%) were male and 65 (55.6%) were female. The mean age of these patients was 2.79±5.39 years. The most prevalent clinical manifestations were dark yellow urine and anorexia. G6PD deficiency was observed in 26 (26.3%) out of 99 patients whose G6PD levels were measured. Conclusion: Given the high prevalence of G6PD deficiency in this study, the measurement of G6PD level along with other liver and biochemical markers in areas with endemic hepatitis A is recommended. In addition, it is recommended that patients undertake precise monitoring for hemolysis and renal function.

Omega 3 in Childhood Migraines: a Double Blind Randomized Clinical Trial.

OBJECTIVE: The effect of using omega-3 to prevent migraine attacks has been raised in recent studies. The majority of these studies have been conducted in adults. Conversely, other studies have yet to confirm the effect of omega-3. The main purpose of this study was to assess the effects of omega-3 in the prevention of migraine attacks in children. MATERIALS & METHODS: In this study, children aged 5-15 years with a diagnosis of migraine were randomly assigned to case and control groups. The case group was treated with sodium valproate and 1 g of omega-3; the control group was treated with sodium valproate and a placebo for 2 months. The severity of attacks was evaluated before and after the treatment using PedMIDAS and parental satisfaction (CGI) using a 7-point Likert scale. RESULTS: In this study, 12 cases and 13 controls were enrolled. The average number of headache attacks per month decreased significantly in both groups after starting the treatment but there was no significant difference between the two groups. The severity of attacks decreased significantly in both groups after starting the treatment but it was not significant between them. Examination of the CGI average showed the average was 6.08 (SD = 0.52) in the case group and 6.07 (SD = 0.65) in the control group. CONCLUSION: The present study indicated that omega-3 with a dose of 1 mg per day has no effect in reducing the severity and frequency of migraine attacks in children. Sodium valproate was effective in reducing the frequency and severity of attacks.

Marital Status and Fertility in Adult Iranian Patients with ß-Thalassemia Major.

Expecting a family is an important component and a great goal for better quality of life for most of adults with ß-thalassemia major. The aim of the present study was to examine the marital status of adults with ß-thalassemia major. This cross-sectional study examined the marital status of patients with transfusion-dependent ß-thalassemia aged over 15 years. Patients' demographic characteristics including age, gender, marital status, duration of marriage, divorce, having or not having children and spouse's health status were recorded. Information about the disease including cardiac and endocrine complications, ferritin level, splenectomy and viral hepatitis were also recorded. Of 228 patients with transfusion-dependent ß-thalassemia major aged over 15 years who were treated at this medical center, 32 (14 %) were married. The mean age of married patients was 25.18 ± 4.74 years. Among the married patients, 8 (25 %) were females and 24 (75 %) patients were males. The mean age of marriage was 22.76 ± 4.16 years. The minimum and maximum marriage age was 15 and 33 years, respectively. The median duration of marriage was one year with the range from 3 months to 11 years. Only 8 (25 %) patients (one female and seven males) had children. Therapeutic advances have led to significantly increased survival and improved quality of life and fertility of patients with ß-thalassemia major. According to the results, 14 % of patients over 15 years were married which was slightly higher as compared with other similar studies.