Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Understanding the underlying causes of congenital anomalies (CAs) can be a complex diagnostic journey. We aimed to assess the efficiency of exome sequencing (ES) and chromosomal microarray analysis (CMA) in patients with CAs among a population with a high fraction of consanguineous marriage. Depending on the patient's symptoms and family history, karyotype/Quantitative Fluorescence- Polymerase Chain Reaction (QF-PCR) (n = 84), CMA (n = 81), ES (n = 79) or combined CMA and ES (n = 24) were performed on 168 probands (66 prenatal and 102 postnatal) with CAs. Twelve (14.28%) probands were diagnosed by karyotype/QF-PCR and seven (8.64%) others were diagnosed by CMA. ES findings were conclusive in 39 (49.36%) families, and 61.90% of them were novel variants. Also, 64.28% of these variants were identified in genes that follow recessive inheritance in CAs. The diagnostic rate (DR) of ES was significantly higher than that of CMA in children from consanguineous families (P = 0·0001). The highest DR by CMA was obtained in the non-consanguineous postnatal subgroup and by ES in the consanguineous prenatal subgroup. In a population that is highly consanguineous, our results suggest that ES may have a higher diagnostic yield than CMA and should be considered as the first-tier test in the evaluation of patients with congenital anomalies.

Neo-epidemiological machine learning based method for COVID-19 related estimations.

The 2019 newfound Coronavirus (COVID-19) still remains as a threatening disease of which new cases are being reported daily from all over the world. The present study aimed at estimating the related rates of morbidity, growth, and mortality for COVID-19 over a three-month period starting from Feb, 19, 2020 to May 18, 2020 in Iran. In addition, it revealed the effect of the mean age, changes in weather temperature and country's executive policies including social distancing, restrictions on travel, closing public places, shops and educational centers. We have developed a combined neural network to estimate basic reproduction number, growth, and mortality rates of COVID-19. Required data was obtained from daily reports of World Health Organization (WHO), Iran Meteorological Organization (IRIMO) and the Statistics Center of Iran. The technique used in the study encompassed the use of Artificial Neural Network (ANN) combined with Swarm Optimization (PSO) and Bus Transportation Algorithms (BTA). The results of the present study showed that the related mortality rate of COVID-19 is in the range of [0.1], and the point 0.275 as the mortality rate provided the best results in terms of the total training and test squared errors of the network. Furthermore, the value of basic reproduction number for ANN-BTA and ANN-PSO was 1.045 and 1.065, respectively. In the present study, regarding the closest number to the regression line (0.275), the number of patients was equal to 2566200 cases (with and without clinical symptoms) and the growth rate based on arithmetic means was estimated to be 1.0411 and 1.06911, respectively. Reviewing the growth and mortality rates over the course of 90 days, after 45 days of first case detection, the highest increase in mortality rate was reported 158 cases. Also, the highest growth rate was related to the eighth and the eighteenth days after the first case report (2.33). In the present study, the weather variant in relationship to the basic reproduction number and mortality rate was estimated ineffective. In addition, the role of quarantine policies implemented by the Iranian government was estimated to be insignificant concerning the mortality rate. However, the age range was an ifluential factor in mortality rate. Finally, the method proposed in the present study cofirmed the role of the mean age of the country in the mortality rate related to COVID-19 patients at the time of research conduction. The results indicated that if sever quarantine restrictions are not applied and Iranian government does not impose effective interventions, about 60% to 70% of the population (it means around 49 to 58 million people) would be afflicted by COVID-19 during June to September 2021.

The effects of betamethasone on clinical outcome of the late preterm neonates born between 34 and 36 weeks of gestation.

BACKGROUND: Prenatal corticosteroid administration in preterm labor is one of the most important treatments available to improve neonatal outcomes; however, its beneficial effects on late preterm infants (after the 34th week of gestation) remained unknown. We aimed to assess the effects of betamethasone on the clinical condition of the late preterm infants born between 34 and 36 weeks of gestation. METHODS: This retrospective cohort study was performed on 100 consecutive infants born between 34 and 36 weeks of gestation and received betamethasone before delivery as the cases and 100 neonates with the same delivery conditions but without receiving betamethasone. All neonates were followed up within hospitalization to assess the neonatal outcome. RESULTS: The neonates receiving betamethasone suffered more from respiratory distress syndrome (49% versus 31%, p = 0.008, RR = 1.59 95% CI (1.12-2.27)) and requiring more respiratory support (71% versus 50%, p = 0.002, RR = 1.43 95% CI (1.13-1.80)) as compared to the control group. There was no difference between the two groups in other neonatal adverse events or death. CONCLUSION: the use of betamethasone in the late preterm period (after 34 weeks of gestation) has no beneficial effects on lung maturity or preventing neonatal adverse outcomes, even may lead to increase the risk for RDS and requiring respiratory support.

Maternal and neonatal outcomes of abnormal placentation: a case-control study.

BACKGROUND: There is limited information on neonatal outcomes in complicated pregnancies with abnormal placentation. The aim of this study was to assess the neonatal outcomes of abnormal placentation. METHODS: In this case-control study, known cases of abnormal placentation between the years 2010 and 2017 were extracted. The case group consisted of pregnant women with abnormal placentation (172 cases), while controls were selected from repeated cesarean section cases with normal placentation (341 people). RESULTS: In the case group, 145 cases (84.3%) had placenta accreta, 12 cases (7.07%) had placenta increta and five cases (8.7%) had placenta percreta. Characteristics significantly more common in the case group included lower mean gestational age and average neonatal weight (p < .001), low birth weight (LBW) and small for gestational age (SGA) (p < .001), admission to the NICU (p < .001), higher average number of hospitalization days in the NICU (p < .05), lower average 5-minute Apgar scores (p < .001), neonatal seizure (p = .004), cranial hemorrhage (p = .037), anemia (p = .002) and thrombocytosis (p = .029). The occurrence of abnormal placentation was associated with some underlying maternal characteristics such as high maternal age (p = .34), lower maternal weight (p = .044), multiparity (p = .11), history of previous abortion (p = .036), and history of cesarean (p = .001). The prevalence of placenta previa was significantly higher in the case group (p < .001). CONCLUSION: The presence of placenta previa has a close relationship with abnormal placentation and is considered to be a potential risk factor for LBW, SGA, lower 5 minutes Apgar scores, first-day seizure, cranial hemorrhage, the necessity for NICU admission and occurrence of anemia and thrombocytosis in neonates.

Determining Laboratory Reference Values of TREC and KREC in Different Age Groups of Iranian Healthy Individuals.

Assessment of the number of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) copies has been recently described as biomarkers of newly formed T and B cells respectively. In this study, we aimed to explore the effects of demographic variables including age, gender, weight, height and ethnicity on these two episomal DNA molecules. Second, for the first time in our country, we determined the reference values of TREC and KREC copy numbers in different age groups of Iranian healthy individuals as a threshold for identifying T cell and B cell lymphopenia. The TREC and KREC copy numbers were evaluated in 251 dried blood spot (DBS) samples from healthy volunteers (age range: 0-60 years). Six primary immunodeficiency (PID) patients were included as disease controls. TREC and KREC copies were markedly reduced with increasing age. Although the levels of TREC and KREC were higher in females than males, this difference did not reach statistical significance. These findings suggest that demographic variables including age should be considered for interpretation results of the TREC/KREC assay.

Zika Virus Infection, Basic and Clinical Aspects: A Review Article.

BACKGROUND: Zika virus infection has recently attracted the attention of medical community. While clinical manifestations of the infection in adult cases are not severe and disease is not associated with high mortality rates, Zika virus infection can have an impact on fetal development and lead to severe neurodevelopmental abnormalities. METHODS: To gain insight into different aspects of Zika virus infection, a comprehensive literature review was performed. With regard to epidemiology and geographical distribution of Zika virus infection, relevant information was extracted from CDC and WHO websites. RESULTS: In this review, we discuss different basic and clinical aspects of Zika virus infection including virology, epidemiology and pathogenesis of disease. Laboratory methods required for the diagnosis of disease together with ethical issues associated with Zika virus infection will also be discussed in detail. CONCLUSION: Herein, we have tried to provide a multi-faceted view of Zika virus infection, with greater emphasis on disease status in Eastern Mediterranean Region.

The Effects of a Peer-Counseling Program on Increase Rate and Continuity of Lactation in Tehran Nursing Mothers.

Objective: The practice of breastfeeding is considered a blessing since its effects on health are well recognized and applies to both mothers and infants. The objective of this study was to evaluate the effectiveness of peer support and training on breastfeeding initiation, duration and exclusivity. Materials and methods: This community-based clinical trial, (IRCT No: 201504049568N12), was conducted during 2015 in the Municipality of Tehran 19 District. First, a total of 150 mothers with their infants from 4 to 20 months of age were asked to complete a questionnaire, which included the demographic characteristics, educational level, and the type of lactation, the initial age of infant for breastfeeding, and the duration of exclusive breastfeeding. Afterwards, 25 volunteer women were selected for lactation counseling. After 6 months, another sample of 116 nursing mothers in the region who had received peer counseling was selected and questioned through the previously mentioned questionnaire. Finally, the results, which were collected from the behavior of the target population before and after the intervention, were compared. Results: The results of the present study indicated that the nursing mothers who received peer counseling proved to have longer durations of breastfeeding (P-value = 0.039), and higher frequency of first hour initiation of breastfeeding (P-value = 0.003) however, the volunteer counselors were mainly housewives who had lower levels of education (P-value = 0.009) and were younger (P-value = 0.009) than those of untrained control group. Conclusion: The study demonstrated the significant effect of peer counseling on breastfeeding initiation and continuation. It is suggested that lactation training could be initiated during the prenatal period along with the conventional methods of training.

Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.

T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs) are recently used for detection of T or B cell lymphopenia in neonates based on region-specific cutoff levels. Here, we report cutoffs for TREC and KREC copies useful for newborn screening and/or diagnosis of primary immunodeficiency diseases (PID) in Iran. DNA was extracted from a single 3.2 mm punch of dried blood spots collected from 2160 anonymized newborns referred to two major referral health centers between 2014 and 2016. For refinement of the cutoffs, 51 patients with a definite diagnosis of severe combined immunodeficiency, X-linked agammaglobulinaemia and combined immunodeficiency, including ataxia telangiectasia, human phosphoglucomutase 3 and Janus kinase-3 deficiency, as well as 47 healthy controls were included. Samples from patients with an X-linked hyper-IgM-syndrome, Wiskott-Aldrich syndrome and DNA ligase 4 deficiency were considered as disease controls. Triplex-quantitative real-time PCR was used. Cutoffs were calculated as TRECs < 11 and KRECs < 6 copies with an ACTB > 700 copies with sensitivity of 100% for TREC and 97% for KREC. Among thirty anonymized newborn samples (1.5%) with abnormal results for TREC and/or KREC, only twenty one available cases were retested and shown to be in the normal range except for three samples (0.15%). All of the patients with a definitive diagnosis were correctly identified based on our established TREC/KREC copy numbers. Determining cutoffs for TREC/KREC is essential for correctly identifying children with PID in newborn screening. Early diagnosis of PID patients enables appropriate measures and therapies like stem cell transplantation. This article is protected by copyright. All rights reserved.

The Iranian Neonatal Registry: Primary Results.

BACKGROUND: Neonatal registry network systems are conducted worldwide in order to improve the quality of neonatal care and also to integrate research into daily practice. METHODS: We designed a neonatal registry system and conducted a pilot study in Vali-Asr Hospital to explore its effectiveness to develop an overview of our neonatal status. This study is a report of three years of data registry (2013-2016) in above mentioned system. RESULTS: Data were collected from 3360 neonates admitted to level 2 of neonatal ward, and NICU (level 3) of the Vali-Asr Hospital. Among them, 184 (5.5%) neonates didn't survive. The mean ± SD of gestational age (GA) was 35.92 ± 3.352 weeks and the mean ± SD of the birth weight was 2609.23 ± 829.751 g. CONCLUSION: This pilot study indicated that the neonatal registry system can help us to have a better overview of the performance of neonatal wards, and also to find new aspects of neonatal disorders. In addition, this study showed that neonatal registry is an essential tool to improve neonatal care.

Birth Weight as a Cardio Metabolic Risk Factor in Iranian Adolescents.

BACKGROUND: A large number of epidemiological studies from different geographical regions showed a considerable relationship between low birth weight (LBW) and adverse health effects later in life. This study aims to assess the birth weight (BW) as a cardio metabolic risk factor in Iranian adolescents. METHODS: This cross-sectional study was conducted on 12-year-old students from different areas of Rasht, North Iran. Data were collected by a questionnaire including variables as birth height, BW, gestational age, blood pressure, and laboratory tests including triglycerides (TGs), total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), and insulin level. Data were analyzed using t-test, Chi-square, and Pearson correlation coefficient. RESULTS: Overall, 858 adolescents participated in this study. Results showed significant correlation between BW and abdominal circumference, hip circumference, total cholesterol, TG, HDL-C and LDL-C (P = 0.064, 0.194, 0.224, 0.017, and 0.017, respectively). CONCLUSIONS: The study findings on the correlation between BW and cardio metabolic factors might serve as confirmatory evidence on the association of LBW with future cardio metabolic disorders.

The relationship between blood pressure, anthropometric indices and metabolic profile in adolescents: a cross sectional study.

OBJECTIVE: To investigate the relationship between blood pressure, anthropometric indices and metabolic profile in adolescents. METHODS: The present cross sectional study was conducted in 1005, 12-y-old junior students referred to 15 urban health centers of Rasht. Samples were recruited randomly and data were collected in a form which consisted of demographic characteristics, history of disease in samples and their immediate families, birth weight, physical examination and clinical examination including height, weight, blood pressure and body mass index. Also, metabolic profiles including fasting blood sugar (FBS), blood sugar (BS), cholesterol, and triglyceride (TG), low density lipoprotein (LDL), high-density lipoprotein (HDL) and insulin levels were measured. Data were analyzed in SPSS software, by descriptive and analytic statistics and p value 0.05 was considered statistically significant. RESULTS: Eight hundred fifty nine adolescents consisting of 550 (64 %) boys and 309 (34 %) girls participated in this study; 11.4 % (84/739 cases) of the participants had hypertension. The strongest correlation was seen between systolic blood pressure and weight, waist or hip circumferences and insulin levels. Also, FBS had very weak correlation with blood pressure. CONCLUSIONS: Thus, weight, waist and hip circumferences, insulin levels, high TG and low HDL have been indicated as the strongest correlating factors for high blood pressure.Thus, these factors should be investigated in high risk children and followed in hypertensive child to monitor cardiometabolic risk factors.

Congenital hypothyroidism: etiology and growth-development outcome.

One of the most preventable causes of mental and growth retardation is congenital hypothyroidism (CH). This study tries to investigate growth and mental outcome of patients with CH. Since November 2006 and November 2007 in Guilan province, north of Iran, all neonates who were diagnosed with CH, evaluated for etiology of CH by laboratory follow up, thyroid sonography or scan. Growth and development of patients with CH were compared with healthy children in same age, geographical area, social and economical classes in four years old. Demographic characteristics including height, weight, and head circumference at birth, follow up time (four years old) and IQ (Good enough test) were recorded in questionnaires. Among 28904 screened neonates, 37 patients with CH were diagnosed. Incidence of CH was 1:781 in live births, 20 (54%) in female neonates and 17 (46%) in male neonates. The incidences of permanent and transient hypothyroidism were 43.2% (16 cases) and 56. 8% (21 cases) respectively. The incidence of permanent and transient hypothyroidism were 16 (43.2%) and 21 (56, 8%), respectively. In permanent CH, 11 cases (%.68.2) had dyshormonogenesis and 5 cases (%.31.2) had thyroid dysgenesis. Significant statistical difference was only in family history of thyroid disease (34, 3% Positive family history in CH vs. 13.2% in control group, P-value 0.03). All other demographic characteristics and IQ had no statistical difference. Patients with CH diagnosed through neonatal screening and treated had normal growth as general population that indicates effective screening program and treatment in this area (3.2%).

Cardio-metabolic risk factors in Iranian children: where we are and the others?

Rising obesity incidence and its complications have lead to change of our view about cardio-metabolic risk factors and need of reassessment of these complications in childhood age. The aim of current study was to evaluate prevalence of obesity and related cardio-metabolic risk factors of children. This was a cross-sectional study in a representative sample of 12 years old children in Rasht, the biggest city in north of Iran. Participants were interviewed and examined by a trained research team and demographic characteristics, detailed examination (height - weight - blood pressure) were recorded. Blood samples were drawn for biochemical testing including Fasting blood sugar, Triglyceride, Cholesterol, HDL & LDL. Data analysis was done using SPSS software. Total participants were 858 children and 550(64%) were male. Prevalence of underweight, normal weight, overweight, obese were 22.5%, 54.4%, 11.3%, 11.8%, respectively. The prevalence of cardio-metabolic risk factors included hypercholesterolemia (6.7%), hypertriglyceridemia (33.6%), high LDL (5.9%), low HDL (28 %), high systolic (7.6%) & diastolic blood pressure (10.6%) (> percentile) and abnormal carbohydrate metabolism (12%) revealed hypertriglyceridemia as the most common dyslipidemia. Correlation analysis didn't show significant correlation between BMI & FBS but LDL, Cholesterol and TG had week positive correlation with BMI (Pearson correlation: 0.161, 0.285, 0.222 respectively, p value <0.001). Obesity and dyslipidemia are common problems in this area and we should note to screen cardiometabolic risk factors in addition of obesity, especially in children with rapid weight gain. This study highly recommended more investigation to evaluate final effect of these factors in adulthood.

Comparison of INSURE method with conventional mechanical ventilation after surfactant administration in preterm infants with respiratory distress syndrome: therapeutic challenge.

Administration of endotracheal surfactant is potentially the main treatment for neonates suffering from RDS (Respiratory Distress Syndrome), which is followed by mechanical ventilation. Late and severe complications may develop as a consequence of using mechanical ventilation. In this study, conventional methods for treatment of RDS are compared with surfactant administration, use of mechanical ventilation for a brief period and NCPAP (Nasal Continuous Positive Airway Pressure), (INSURE method ((Intubation, Surfactant administration and extubation)). A randomized clinical trial study was performed, including all newborn infants with diagnosed RDS and a gestational age of 35 weeks or less, who were admitted in NICU of Valiasr hospital. The patients were then divided randomly into two CMV (Conventional Mechanical Ventilation) and INSURE groups. Surfactant administration and consequent long-term mechanical ventilation were done in the first group (CMV group). In the second group (INSURE group), surfactant was administered followed by a short-term period of mechanical ventilation. The infants were then extubated, and NCPAP was embedded. The comparison included crucial duration of mechanical ventilation and oxygen therapy, IVH (Intraventricular Hemorrhage), PDA (Patent Ductus Arteriosus), air-leak syndromes, BPD (Broncho-Pulmonary Dysplasia) and mortality rate. The need for mechanical ventilation in 5th day of admission was 43% decreased (P=0.005) in INSURE group in comparison to CMV group. A decline (P=0.01) in the incidence of IVH and PDA was also achieved. Pneumothorax, chronic pulmonary disease and mortality rates, were not significantly different among two groups. (P=0.25, P=0.14, P=0.25, respectively). This study indicated that INSURE method in the treatment of RDS decreases the need for mechanical ventilation and oxygen-therapy in preterm neonates. Moreover, relevant complications as IVH and PDA were observed to be reduced. Thus, it seems rationale to perform this method as the initial treatment for neonates with mild to moderate RDS.

Results of nasolacrimal duct probing in children between 9-48 months.

Congenital nasolacrimal duct obstruction (CNLDO) is a common disease in children. The classic treatment of CNLDO is probing that was done around one year old. However, controversy exists regarding the outcome of probing in children older than one year. This study aimed to find the cure rate of initial probing for CNLDO and identify factors producing the failure rate in old age. In this retrospective interventional case series study, 100 eyes of 92 patients aged 9-48 months with CNLDO underwent probing with general anesthesia. According to the intraoperative results of probing, CNLDO were categorized in two groups of membranous obstruction at the end of nasolacrimal duct obstruction (NLD) and complex obstruction at canaliculus, lacrimal sac and N LD. Patients were categorized in three groups according to the age of probing into under 12, 12 to 24 and over 24 months. Success rate was defined as successful irrigation of NLD intraoperatively and absence of lacrimation and discharge at 1 week, one, three and six months postoperatively. The average age of patients and probing were 47.35±25.59 and 17.32±7.85 months respectively. Membranous obstruction accounted for 72% of patients and remainder had complex type. An overall cure rate of 91%, 89% and 60% was found in patients aged 9-12, 12-24 and 24-48 months respectively. Surgery success rate after six months was 91% in membranous group and 52% in complex group. There was a significant relation between the type of obstruction and opening of NLD (p<0.O01). This study showed that the probing failure of probing after one year was related to the complexity of obstruction rather than the age of the patient. It is recommended that probing could safely be done in under 4 years old.

Frequency of exclusive breastfeeding and its affecting factors in Tehran, 2011.

This study was designed to assess the frequency of exclusive breastfeeding in two health centers of Shahid Beheshti University of Medical sciences in Khak Sefid, Tehran, Iran. A total of 175 mothers, referred for the third dose of their infants' DPT vaccination program participated in the study by completing a questionnaire regarding characteristics of their pregnancy, delivery and exclusive breastfeeding within the first six months of birth. Two-variable analysis and logistic regression test were applied to evaluate factors influencing exclusive breastfeeding. Results indicated that the frequency of exclusive breastfeeding, i.e., breastfeeding within the first six months of birth without the use of any other food with or without vitamin supplementation, was 31.17% (95% CI=23.77%-38.57%), which means 48 infants of 154<179 days old Among 154 infants (<179 days old) 48 did not have a history of being separated from their mothers. In logistic regression analysis, the variables which were directly associated with exclusive breastfeeding, with 0.05 significance level of alpha, included breastfeeding within the first hour of birth, eight times or more breastfeeding per day and receiving breastfeeding education during pregnancy. Variables with a negative association with breastfeeding included lack of breast milk, presence of a breast problem that could hinder breastfeeding, bottle feeding, physician or family's advice not to breastfeed and infant's refusal to breastfeed. Frequency of breastfeeding within the six months of birth is less than similar frequencies which are obtained by asking about breastfeeding on the day of the interview. It is recommended to apply real frequency for assessment, evaluation and programming of exclusive breastfeeding during the first six months of birth.

Comparison of High Frequency Positive Pressure Mechanical Ventilation (HFPPV) With Conventional Method in the Treatment of Neonatal Respiratory Failure.

BACKGROUND: Respiratory failure is a major problem in neonatal medicine in all over the world and has different causes. Using mechanical ventilation is one of its major treatments. OBJECTIVES: Different strategies have been expressed in this context, including high frequency mechanical ventilation. PATIENTS AND METHODS: This study is a prospective randomized clinical trial conducted on all newborns with respiratory failure hospitalized in the NICU of Tehran vali-asr Hospital during 2009.These patients were divided in to two groups through block Randomization method; conventional mechanical ventilation group and high frequency ventilation group. RESULTS: Intraventricular hemorrhage (IVH) and air leak (e.g. pneumothorax) were less in HFPPV group than conventional group (P = 0.012 and P = 0.038). The mean time needed for mechanical ventilation was lower in HFPPV group, but this difference was not statistically significant (P = 0.922). Needing to O2 in 28 days of age was almost equal in both groups (P = 0. 99). Mortality, and refractory hypoxia and PVL were lower in HFPPV group, but the difference was not statistically significant (P = 0.301, P = 0. 508, P = 0. 113). CONCLUSIONS: Treatment of neonatal respiratory failure with high rate mechanical ventilation may reduce some complications.

A study of Bernard-Soulier syndrome in Tehran, Iran.

BACKGROUND: Bernard-Soulier Syndrome (BSS) is a hemorrhagic disorder with an autosomal recessive pattern of inheritance. We describe the demographic and clinical characteristics of Iranian patients with BSS followed in a major teaching and tertiary care hospital in Tehran, Iran. METHODS: We performed a retrospective medical record review of 97 patients with BSS who received care at the Imam Khomeini Hospital between 1969 and 2001. We collected data on the family history, clinical presentation, bleeding episodes, and lab profiles of these patients. RESULTS: Among all patients, 78 (81%) had a family history of consanguinity. The most common presenting symptom was epistaxis, seen in 62 (63.9%) patients. Peripheral blood smears demonstrated giant platelets on 67 (68.7%) of patients. Complete blood count demonstrated decreased platelets in 85 (87.4%) of patients ranging from 20,000/µL to 130,000/µL. Anemia was seen in 62 (64%) and 91 (93.8%) had prolonged bleeding time. The majority of patients (60%) had mild bleeding episodes, but 39 (40%) had at least one episode of severe bleeding in their past history. CONCLUSION: Our data are consistent with other reports regarding clinical presentation of BSS, but consanguinity seems to be more common.