Iranian Journal of Blood and Cancer
Volume:7 Issue: 1, Autumn 2014

Bernard-Soulier syndrome is a rare inherited bleeding disease caused by quantitative or qualitative defect of GPIb/IX/V, a platelet complex that binds the Von Willebrand factor. The expression of GPIb-IX-V complex can be evaluated by flow cytometry and confirmed by the absence of ristocetin-induced platelet aggregation in platelet-rich plasma. The main aim of the present study was to classify Iranian Bernard-Soulier syndrome patients by a flow cytometric method, and to evaluate the correlation between platelet immunophenotype and clinical findings among patients. Patients and The surface expression level of GPIb-IX-V on platelets was assessed in fifteen Bernard-Soulier syndrome patients, using a panel of antibodies using a quantitative flow cytometry method. The results of the physical examination, family history and clinical presentation were also recorded by a physician. The present study showed that all the patients suffer from a severe form of GPIb-IX-V complex deficiency. The study also found no correlation between the platelet surface glycoprotein expression and severity of bleeding among patients. Severe quantitative defect is the most common subtype among Iranian patients with Bernard-Soulier syndrome. Platelet Immunophenotyping alone does not determine the severity of hemorrhage in patients with Bernard-Soulier syndrome. Key words: Bernard Soulier Syndrome, GPIb-IX-V, flow cytometry, bleeding.

In acute myeloblastic leukemia, a large number of tumor suppressor genes are silenced through DNA methylation such as CDKN2B & p73. Wnt inhibitory factor 1 (WIF1) and Dickkopf-3 (DKK-1) are negative regulators of Wnt signaling pathway. In the present study, we evaluated the methylation status of WIF1 and DKK-1 genes in acute myeloblastic leukemia patients. Patients and Blood samples were taken from 120 AML patients and 25 healthy control subjects. DNA was isolated, treated with sodium bisulphite, and examined using methylation-specific polymerase chain reaction (MSP) with primers specific for methylated and unmethylated sequences of the WIF1 and DKK-1 genes. The frequency of aberrant hypermethylation of WIF1 and DKK-1 genes in acute myeloblastic leukemia patients were determined to be 35% (42/120) and 28.3% (34/120), respectively. In addition, for all subjects in control group, methylation of WIF1 and DKK-1 genes were negative. Patients with M0 subtype of FAB-AML had the highest incidence of hypermethylation of WIF1 (P = 0.003) and DKK-1 (P = 0.005) genes. The present study showed that, like many solid tumors, WIF1 and DKK-1 genes methylation also occurs in acute myeloblastic leukemia. The study of other antagonists of Wnt signaling pathways are recommended. Key words: AML, Wnt inhibitory factor 1, dickkopf, DNA methylation.

Various studies have come to contradictory results regarding the relationship between maternal hemoglobin (Hb) level and adverse pregnancy outcomes. The present study aimed to investigate the birth outcomes among pregnant women who had normal hemoglobin levels in the first trimester of their pregnancy. Patients and In this prospective study, 108 healthy pregnant women with gestational age of 10-14 weeks and Hb≥11g/dl were selected through cluster random sampling and were followed up until delivery. Mothers’ Hb concentration was measured at the end of the first, second, and third trimesters. Then, the relationship between maternal Hb concentration and infants’ birth weight and Apgar score was investigated. The incidence rates of anemia in the second and third trimesters were 12.8% and 27.9%, respectively. Moreover, 16.27% of the newborns had low birth weight and 17.4% had Apgar scores of less than 8. The results revealed a significant relationship between birth weight and maternal Hb level in the second (P=0.02), and the third trimester (P=0.03). Also, the rate of birth of infants with Apgar scores<8 significantly increased among women with Hb<10.5g/dl or Hb>13.2g/dl in the second trimester (P<0.001). According to the present study’s findings, maternal Hb level is suggested to be controlled during the second and third trimesters of pregnancy in addition to the first trimester. In this way, necessary care and treatment measures can be taken based on the women’s hemodynamic status which might reduce the low birth weight and low Apgar score among infants.

Approximately 600,000 deaths occur every year as a result of the acute and chronic consequences of hepatitis B virus infection. Ten different hepatitis B virus genotypes have been identified with distinct geographical distributions. Different clinical outcomes, including the rate of mutations, development of hepatocellular carcinoma, chronicity, response to treatment, transplantation rejection and occult infections, are affected by specific genotypes. The aim of the present study was to determine the frequency of genotype D of the virus in Isfahan, Iran. Patients and In this study primarily hepatitis B virus positive patients were identified by the detection of HBs antigen using ELISA test and then PCR was used as a confirmatory test. Fifty five patients that were identified as hepatitis B positive were tested for hepatitis D genotype using type - specific PCR. The patients included 30 (54.5%) females and 25 (45.5%) males. In total, frequency of genotype D was 29 out of 55 cases (52.7%). Genotype D was detected in 19 (63.3%) females and 10 (40.0%) males indicating no statistically significant difference. The difference in the level of liver enzymes in patients infected with genotype D and non-genotype D hepatitis B virus were not significant. In the present study the frequency of genotype D among patients with hepatitis B virus infection in Isfahan, Iran, was 52.7%. No significant relation was observed between the level of liver enzymes and infection with the genotype D.

Quality of life has been used as an important tool to understand illnesses impact in recent decades. Idiopathic thrombocytopenic purpura is a chronic disease which affects the individuals’ quality of life. The present study was conducted to compare the quality of life among idiopathic thrombocytopenic purpura patients’ with healthy people. Patients and This was a descriptive-comparative study with case and control groups. In this study, 64 randomly selected idiopathic thrombocytopenic purpura patients referred to Seyed Al-Shohada Hospital, Isfahan, Iran, and the same number of healthy people from the patients’ neighborhood as the control group, were compared considering their quality of life. The data collection tool used was the World Health Organization Quality of Life- BREF questionnaire. Our study results showed that 64.1% of studied cases were older than 35 years of age, 59.4% were women, and most of them had primary educational level (53.1%). The mean scores of physical, mental, and environmental dimensions of quality of life and the total mean score of quality of life were significantly lower among idiopathic thrombocytopenic purpura patients (P < 0.001). However, there was no significant difference between the two groups in terms of the mean score of the social dimension of quality of life (P = 0.2). Since quality of life among idiopathic thrombocytopenic purpura patients is lower than that of healthy people, interventional therapeutic and care measures to promote quality of life among these patients seem necessary.

Cord blood hematopoietic stem cells are widely used as an alternative source for hematopoietic stem cells transplant. Increasing rate of patients who need hematopoietic stem cells transplant and many advantages of cord blood in comparison to bone marrow hematopoietic stem cells، have promoted banking of cord blood units. Cord blood banking requires accurate steps in donor selection، cord blood collection، processing، cryopreservation and finally screening and testing of the units. The main limitation of umbilical cord blood transplantation is cell dose and resolving this limitation is vital in avoiding frequent problems in hematopoietic stem cells transplant. Transplantation of more than one unit and ex vivo expansion of umbilical cord blood units، decrease these limitation. Furthermore، the international standard guidelines have been published by the Foundation for the Accreditation of Cellular Therapy (FACT) -NetCord to improve the quality of units and simulation of cord blood banks activities. This review presents a general overview on cord blood banking and related activities and its improvement during last two decades.

Doxorubicin, used in pediatric chemotherapy regimens, has cardiotoxic effects. Dexrazoxane is co-administrated with doxorubicin to prevent its cardiotoxicity. Here we have explored some alternative food or drugs to be used in absence of dexrazoxane since it’s not readily available in Iran at this time.

Acute Myeloid Leukemia (AML) with translocation (3,3) is a form of AML that may present de novo or may arise from a previous myelodysplastic syndrome. It is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. A subset of patients present with hepatosplenomegaly while a few cases have less than twenty percent blasts at the time of diagnosis, including cases with features of chronic myelomonocytic leukemia (CMML). Here we present a rare case presenting initially with features of CMML who eventually turned out to be a case of AML with translocation (3, 3).

Abnormalities of the thyroid gland are among the most frequent endocrine complications observed in childhood cancer survivors. We report an 11 years old girl who developed central hypothyroidism and ACTH deficiency during the chemotherapy for CNS relapse of acute lymphoblastic leukemia before receiving radiotherapy.

This is a picture presentation of myeloproliferative disorder developing to longitudinal melanonychia as a side effect of hydroxyurea.