Background : Thalassemias and hemoglobinopathies are genetic autosomal recessive disorders affect... more Background : Thalassemias and hemoglobinopathies are genetic autosomal recessive disorders affecting hemoglobin molecules in different ways, qualitatively and quantitatively. The highest prevalence of thalassemia has been reported in the thalassemia belt and Mediterranean region countries and in Middle East including Iran. The present study evaluated the prevalence of α/ β-thalassemias and hemoglobinopathies in a large number of Iranian populations. Methods: This five-year study was conducted on 3780 individuals. Initially complete blood cell count, HPLC, Hb electrophoresis and HbA 2 measurement for thalassemia carrier identification. MCV≤80fL, MCH˂27pg and Hb-A2>3.5% were standard diagnostics β-thalassemia diagnosis. In cases with low MCV and MCH indices (MCV≤80 fl, MCH<27 pg) and Hb-A2< 3.5% and normal Hb-electrophoresis, α-thalassemia was considered in the list of differential diagnosis. Patients with abnormal hemoglobin varieties in hemoglobin electrophoresis were candi...
MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in... more MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in the MYO7A gene result in Usher syndrome type 1B and other disorders. In this manuscript, we reported a mutation (c.4705delA) in exon 35, causing the alteration of a Ser amino acid to Ala at codon 1569 (p.H2027del) located within the first FERMdomain of the human protein myosin VIIA. This mutation involved in the pathogenesis of hearing loss, congenital night blindness, muscular weakness, skin problem, and difficulty in keeping balance in the 13-year-old female. After checkup the patient’s DNA was extracted from peripheral blood and amplification was performed by PCR. Sequencing method was performed for identification of the mutation. The c.4705delA mutation in exon 35 was found in the patient in heterozygosis form; this means that her mother and father were carriers. This mutation is located on the tail of the myosinVIIA protein and is associated with several disorders.
INTRODUCTION FLT3 ITD and D835 mutations occur in high frequency in AML and to a lower rate in AL... more INTRODUCTION FLT3 ITD and D835 mutations occur in high frequency in AML and to a lower rate in ALL patients with poor prognosis. METHODS ITD and D835 mutations were studied in 100 diagnosed acute leukemia patients including 27 AML and 73 ALL with various FAB classifications by PCR and PCR-RFLP, respectively. Subsequently, PCR products of positive samples were confirmed by sequencing analyses. RESULTS ITD mutations occurred in 10% of all pediatric acute leukemia, including AML and ALL. 25.9% of AML patients harbor a mutation in the ITD in various subtypes. The frequency of ITD mutations was 4% in ALL. Various insertions of nucleotides in ITD were observed, similar to those described in the literature previously. CONCLUSION These preliminary data suggest that flt3-ITD mutations may play an important role in leukemogenesis in a proportion of children, particularly in the case of AML.
Purpose: Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with an approx... more Purpose: Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with an approximately 12 higher incidence in comparison with reported global incidence of the disorder. A standard diagnostic algorithm was proposed by the International Society of Thrombosis and Hemostasis (ISTH) for FXIIID, however, due to the lack of investments all parts of this algorithm cannot be applied in Iran. Thus, this study presented a national algorithm for diagnosis of FXIIID in Iran. Methods: For presentation of a national algorithm, all previously published data about Iranian patients with FXIIID as well as practical methods for diagnosis of FXIIID were collected using Science Direct, Google Scholar and PubMed databases. Results: With available facilities, an algorithm with regards to the laboratory assessment, clinical presentations as well as family history can be suitable for an on time and less expensive diagnosis of FXIIID in Iran. Conclusion: Since ISTH diagnostic algorithm is ex...
Medical Journal of the Islamic Republic of Iran, 2020
Background: At early ages, recurrent or persistent infections are associated with increased serum... more Background: At early ages, recurrent or persistent infections are associated with increased serum C-reactive protein (CRP). Inflammatory mediators release inhibitory cells named myeloid-derived suppressor cell (MDSC) into circulating and tumor tissues. In the present study, we assayed the percentage and count of whole blood CD11b+/CD33+/HLA-DR- MDSCs or myeloid cells at early ages with infectious diseases and increased CRP. Methods: In this study, the clinical significance of CD11b+/CD33+/HLA-DR- MDSCs or myeloid cells was evaluated in whole blood samples from 40 patients with infectious disease and 20 healthy controls by flow cytometry analysis. Subsequently, the Pearson correlation between the percentage and absolute count of MDSCs with clinical parameters were obtained by SPSS analysis. A p value of < 0.05 was considered statistically significant. Results: We found a significantly higher level of MDSCs in infants and children with infectious diseases and increased CRP as compa...
Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell ... more Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell transplant is rare. There is a case report of a child who developed a granulocytic sarcoma of the maxillary and sphenoid sinuses and lumbosacral spinal cord mass 18 months after allogeneic bone marrow transplant for CML. He was presented with per orbital edema and neurological deficit of lower extremities and a mass lesion was found on spinal cord imaging. No evidence of hematologic relapse was identified at that time by bone marrow histology or cytogenetic. The patient died 1 month later with a picture of pneumonia, left ventricular dysfunction and a cardiopulmonary arrest on a presumed underlying sepsis with infectious etiology. Granulocytic sarcoma should be considered in the differential diagnosis of mass lesions presenting after allogeneic bone marrow transplantation for CML, even if there is no evidence of bone marrow involvement.
Article type: Review Article Rare bleeding disorders (RBDs) are a heterogeneous group of disorder... more Article type: Review Article Rare bleeding disorders (RBDs) are a heterogeneous group of disorders including different types of coagulation factor deficiencies. The disorders are inherited in an autosomal recessive manner with different frequencies varying from 1:500000 to 1:2000000. Patients affected with RBDs are presented with a wide spectrum of clinical manifestations ranging from mild to life threatening bleeding diathesis. These disorders are usually present in regions with high rate of parental consanguinity. Despite the rare incidence of RBDs, it is necessary for physicians to be aware of these disorders. Here we aim to have a comprehensive review on general features and also the recent advances in understanding of RBDs. For this review study we searched MEDLINE and Web of Science databases for English sources from 1990 to 2014, using the following keywords: rare bleeding disorder, rare inherited disorder, factor deficiency, structure, function, epidemiology, manifestations,...
HUS is a leading cause of AKI in infants. Though new classification of HUS is based on underlying... more HUS is a leading cause of AKI in infants. Though new classification of HUS is based on underlying disease, it traditionally defines as diarrhea positive (typical) and negative (atypical). We have no figure of the incidence and prevalence of HUS, the underlying disease and the outcome in Iranian patients. This meta-analysis of Iranian studies deals with this matter. We used relevant medical search engines and national databases from 1985 to 2019. We searched manually to detect admissible cross references. All studies assessed for the aspects and the risk of distort by three appraisers. Metaprop package of STAT applied to calculate point prevalence, proportion, and incidence with 95% confidence intervals. A total of 27 articles and one abstract of congress containing 7084 cases met all the inclusion criteria and qualified for the final analysis. Considering 1397 patients with HUS over 33 years of study, the pooled prevalence was 28% (95% CI: 15 to 44) and 18.38 pmp (0.55 pmp/y). In ch...
Background Factor XIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with high bleeding t... more Background Factor XIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with high bleeding tendency. A wide spectrum of bleeding episodes was reported in patients with severe FXIIID. These bleeding diathesis include delay wound bleeding, intracranial hemorrhage, epistaxis and gum bleeding. A plasma level 3% to 10% of factor XIII is sufficient to prevent occurrence of bleeding in these patients. Here we design a study with two groups including heterozygote of FXIIID and normal population as a control group to assessed present of bleeding episodes in heterozygote patients. Method This prospective study was carried out on 53 (50 females and 3 males) heterozygote patients of FXIIID as well as the same number of normal population in duration of 3 months. All heterozygote individuals were selected from homozygote patients’ family. Healthy individuals were selected randomly from different parts of provinces. Both groups were age and sex matched (p=0.3). All individuals were assessed f...
Background: factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with an estima... more Background: factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with an estimated incidence of 1 per 1 to 3 million that transmitted in an autosomal recessive manner. The disorder is characterized by severe bleeding diathesis, impaired wound healing and recurrent spontaneous miscarriage. Sistan and Baluchistan Province in south east of Iran with high rate of consanguineous marriages has the highest incidence of FXIIID around the world. The aim of this study was to evaluate clinical manifestations and prophylaxis therapy in FXIII deficient patients with life threatening complications and to assess the risk of FXIII inhibitor development in patients with long term prophylaxis. We also investigated prophylaxis treatment in neonates with FXIIID. Methods: This study was conducted on 190 patients with FXIIID from southeast of Iran. Diagnosis of FXIIID was based on factor activity and molecular investigation of Trp187Arg which is the only reported mutation of FXIII in th...
Iranian journal of pharmaceutical research : IJPR, 2016
Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/... more Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/3-5 million. Management of disease is performed by fresh frozen plasma (FFP), Cryoprecipitate (CP) or FXIII concentrate (Fibrogammin P®). Our objective was to assess safety and effectiveness of Fibrogammin P® in patients with FXIIID. For this purpose we designed this long-term follow up study on a large group of patients with FXIIID. This prospective study was conducted on 213 patients with FXIIID since 2009 to 2013. Administrated dose for Fibrogammin P® according to clinical situations of patients ranged from 10 to 26 IU/kg every 4 - 6 weeks. All patients in 6-month intervals were checked for human immunodeficiency virus (HIV), hepatitis A, B and C viruses (HAV, HBV, HCV). Twelve percent of participants had at least one ICH episode until 2008 but after administration of Fibrogammin P® did not have any major bleeding or episode of ICH, except in one patient. We also had 7 females with re...
International journal of hematology-oncology and stem cell research, 2016
Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell ... more Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell transplant is rare. There is a case report of a child who developed a granulocytic sarcoma of the maxillary and sphenoid sinuses and lumbosacral spinal cord mass 18 months after allogeneic bone marrow transplant for CML. He was presented with per orbital edema and neurological deficit of lower extremities and a mass lesion was found on spinal cord imaging. No evidence of hematologic relapse was identified at that time by bone marrow histology or cytogenetic. The patient died 1 month later with a picture of pneumonia, left ventricular dysfunction and a cardiopulmonary arrest on a presumed underlying sepsis with infectious etiology. Granulocytic sarcoma should be considered in the differential diagnosis of mass lesions presenting after allogeneic bone marrow transplantation for CML, even if there is no evidence of bone marrow involvement.
Background : Thalassemias and hemoglobinopathies are genetic autosomal recessive disorders affect... more Background : Thalassemias and hemoglobinopathies are genetic autosomal recessive disorders affecting hemoglobin molecules in different ways, qualitatively and quantitatively. The highest prevalence of thalassemia has been reported in the thalassemia belt and Mediterranean region countries and in Middle East including Iran. The present study evaluated the prevalence of α/ β-thalassemias and hemoglobinopathies in a large number of Iranian populations. Methods: This five-year study was conducted on 3780 individuals. Initially complete blood cell count, HPLC, Hb electrophoresis and HbA 2 measurement for thalassemia carrier identification. MCV≤80fL, MCH˂27pg and Hb-A2>3.5% were standard diagnostics β-thalassemia diagnosis. In cases with low MCV and MCH indices (MCV≤80 fl, MCH<27 pg) and Hb-A2< 3.5% and normal Hb-electrophoresis, α-thalassemia was considered in the list of differential diagnosis. Patients with abnormal hemoglobin varieties in hemoglobin electrophoresis were candi...
MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in... more MYO7A is an unconventional myosin that is essential for ordinary hearing and vision; mutations in the MYO7A gene result in Usher syndrome type 1B and other disorders. In this manuscript, we reported a mutation (c.4705delA) in exon 35, causing the alteration of a Ser amino acid to Ala at codon 1569 (p.H2027del) located within the first FERMdomain of the human protein myosin VIIA. This mutation involved in the pathogenesis of hearing loss, congenital night blindness, muscular weakness, skin problem, and difficulty in keeping balance in the 13-year-old female. After checkup the patient’s DNA was extracted from peripheral blood and amplification was performed by PCR. Sequencing method was performed for identification of the mutation. The c.4705delA mutation in exon 35 was found in the patient in heterozygosis form; this means that her mother and father were carriers. This mutation is located on the tail of the myosinVIIA protein and is associated with several disorders.
INTRODUCTION FLT3 ITD and D835 mutations occur in high frequency in AML and to a lower rate in AL... more INTRODUCTION FLT3 ITD and D835 mutations occur in high frequency in AML and to a lower rate in ALL patients with poor prognosis. METHODS ITD and D835 mutations were studied in 100 diagnosed acute leukemia patients including 27 AML and 73 ALL with various FAB classifications by PCR and PCR-RFLP, respectively. Subsequently, PCR products of positive samples were confirmed by sequencing analyses. RESULTS ITD mutations occurred in 10% of all pediatric acute leukemia, including AML and ALL. 25.9% of AML patients harbor a mutation in the ITD in various subtypes. The frequency of ITD mutations was 4% in ALL. Various insertions of nucleotides in ITD were observed, similar to those described in the literature previously. CONCLUSION These preliminary data suggest that flt3-ITD mutations may play an important role in leukemogenesis in a proportion of children, particularly in the case of AML.
Purpose: Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with an approx... more Purpose: Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with an approximately 12 higher incidence in comparison with reported global incidence of the disorder. A standard diagnostic algorithm was proposed by the International Society of Thrombosis and Hemostasis (ISTH) for FXIIID, however, due to the lack of investments all parts of this algorithm cannot be applied in Iran. Thus, this study presented a national algorithm for diagnosis of FXIIID in Iran. Methods: For presentation of a national algorithm, all previously published data about Iranian patients with FXIIID as well as practical methods for diagnosis of FXIIID were collected using Science Direct, Google Scholar and PubMed databases. Results: With available facilities, an algorithm with regards to the laboratory assessment, clinical presentations as well as family history can be suitable for an on time and less expensive diagnosis of FXIIID in Iran. Conclusion: Since ISTH diagnostic algorithm is ex...
Medical Journal of the Islamic Republic of Iran, 2020
Background: At early ages, recurrent or persistent infections are associated with increased serum... more Background: At early ages, recurrent or persistent infections are associated with increased serum C-reactive protein (CRP). Inflammatory mediators release inhibitory cells named myeloid-derived suppressor cell (MDSC) into circulating and tumor tissues. In the present study, we assayed the percentage and count of whole blood CD11b+/CD33+/HLA-DR- MDSCs or myeloid cells at early ages with infectious diseases and increased CRP. Methods: In this study, the clinical significance of CD11b+/CD33+/HLA-DR- MDSCs or myeloid cells was evaluated in whole blood samples from 40 patients with infectious disease and 20 healthy controls by flow cytometry analysis. Subsequently, the Pearson correlation between the percentage and absolute count of MDSCs with clinical parameters were obtained by SPSS analysis. A p value of < 0.05 was considered statistically significant. Results: We found a significantly higher level of MDSCs in infants and children with infectious diseases and increased CRP as compa...
Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell ... more Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell transplant is rare. There is a case report of a child who developed a granulocytic sarcoma of the maxillary and sphenoid sinuses and lumbosacral spinal cord mass 18 months after allogeneic bone marrow transplant for CML. He was presented with per orbital edema and neurological deficit of lower extremities and a mass lesion was found on spinal cord imaging. No evidence of hematologic relapse was identified at that time by bone marrow histology or cytogenetic. The patient died 1 month later with a picture of pneumonia, left ventricular dysfunction and a cardiopulmonary arrest on a presumed underlying sepsis with infectious etiology. Granulocytic sarcoma should be considered in the differential diagnosis of mass lesions presenting after allogeneic bone marrow transplantation for CML, even if there is no evidence of bone marrow involvement.
Article type: Review Article Rare bleeding disorders (RBDs) are a heterogeneous group of disorder... more Article type: Review Article Rare bleeding disorders (RBDs) are a heterogeneous group of disorders including different types of coagulation factor deficiencies. The disorders are inherited in an autosomal recessive manner with different frequencies varying from 1:500000 to 1:2000000. Patients affected with RBDs are presented with a wide spectrum of clinical manifestations ranging from mild to life threatening bleeding diathesis. These disorders are usually present in regions with high rate of parental consanguinity. Despite the rare incidence of RBDs, it is necessary for physicians to be aware of these disorders. Here we aim to have a comprehensive review on general features and also the recent advances in understanding of RBDs. For this review study we searched MEDLINE and Web of Science databases for English sources from 1990 to 2014, using the following keywords: rare bleeding disorder, rare inherited disorder, factor deficiency, structure, function, epidemiology, manifestations,...
HUS is a leading cause of AKI in infants. Though new classification of HUS is based on underlying... more HUS is a leading cause of AKI in infants. Though new classification of HUS is based on underlying disease, it traditionally defines as diarrhea positive (typical) and negative (atypical). We have no figure of the incidence and prevalence of HUS, the underlying disease and the outcome in Iranian patients. This meta-analysis of Iranian studies deals with this matter. We used relevant medical search engines and national databases from 1985 to 2019. We searched manually to detect admissible cross references. All studies assessed for the aspects and the risk of distort by three appraisers. Metaprop package of STAT applied to calculate point prevalence, proportion, and incidence with 95% confidence intervals. A total of 27 articles and one abstract of congress containing 7084 cases met all the inclusion criteria and qualified for the final analysis. Considering 1397 patients with HUS over 33 years of study, the pooled prevalence was 28% (95% CI: 15 to 44) and 18.38 pmp (0.55 pmp/y). In ch...
Background Factor XIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with high bleeding t... more Background Factor XIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with high bleeding tendency. A wide spectrum of bleeding episodes was reported in patients with severe FXIIID. These bleeding diathesis include delay wound bleeding, intracranial hemorrhage, epistaxis and gum bleeding. A plasma level 3% to 10% of factor XIII is sufficient to prevent occurrence of bleeding in these patients. Here we design a study with two groups including heterozygote of FXIIID and normal population as a control group to assessed present of bleeding episodes in heterozygote patients. Method This prospective study was carried out on 53 (50 females and 3 males) heterozygote patients of FXIIID as well as the same number of normal population in duration of 3 months. All heterozygote individuals were selected from homozygote patients’ family. Healthy individuals were selected randomly from different parts of provinces. Both groups were age and sex matched (p=0.3). All individuals were assessed f...
Background: factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with an estima... more Background: factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with an estimated incidence of 1 per 1 to 3 million that transmitted in an autosomal recessive manner. The disorder is characterized by severe bleeding diathesis, impaired wound healing and recurrent spontaneous miscarriage. Sistan and Baluchistan Province in south east of Iran with high rate of consanguineous marriages has the highest incidence of FXIIID around the world. The aim of this study was to evaluate clinical manifestations and prophylaxis therapy in FXIII deficient patients with life threatening complications and to assess the risk of FXIII inhibitor development in patients with long term prophylaxis. We also investigated prophylaxis treatment in neonates with FXIIID. Methods: This study was conducted on 190 patients with FXIIID from southeast of Iran. Diagnosis of FXIIID was based on factor activity and molecular investigation of Trp187Arg which is the only reported mutation of FXIII in th...
Iranian journal of pharmaceutical research : IJPR, 2016
Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/... more Factor XIII deficiency (FXIIID) is an extremely rare hemorrhagic disorder with a prevalence of 1/3-5 million. Management of disease is performed by fresh frozen plasma (FFP), Cryoprecipitate (CP) or FXIII concentrate (Fibrogammin P®). Our objective was to assess safety and effectiveness of Fibrogammin P® in patients with FXIIID. For this purpose we designed this long-term follow up study on a large group of patients with FXIIID. This prospective study was conducted on 213 patients with FXIIID since 2009 to 2013. Administrated dose for Fibrogammin P® according to clinical situations of patients ranged from 10 to 26 IU/kg every 4 - 6 weeks. All patients in 6-month intervals were checked for human immunodeficiency virus (HIV), hepatitis A, B and C viruses (HAV, HBV, HCV). Twelve percent of participants had at least one ICH episode until 2008 but after administration of Fibrogammin P® did not have any major bleeding or episode of ICH, except in one patient. We also had 7 females with re...
International journal of hematology-oncology and stem cell research, 2016
Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell ... more Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell transplant is rare. There is a case report of a child who developed a granulocytic sarcoma of the maxillary and sphenoid sinuses and lumbosacral spinal cord mass 18 months after allogeneic bone marrow transplant for CML. He was presented with per orbital edema and neurological deficit of lower extremities and a mass lesion was found on spinal cord imaging. No evidence of hematologic relapse was identified at that time by bone marrow histology or cytogenetic. The patient died 1 month later with a picture of pneumonia, left ventricular dysfunction and a cardiopulmonary arrest on a presumed underlying sepsis with infectious etiology. Granulocytic sarcoma should be considered in the differential diagnosis of mass lesions presenting after allogeneic bone marrow transplantation for CML, even if there is no evidence of bone marrow involvement.
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