---

Objective: Thalassemic patients are at risk of zinc deficiency due to various causes including desferal injection, hyperzincuria, high ferritin levels, and hepatic iron overload. We evaluate the effect of zinc supplementation on linear growth of beta-thalassemia patients.

Methods: one-hundred beta-thalassemic major patients whose heights were within 3rd to l0th percentile were randomly divided into two groups, each group consist of 50 patients: Group I received oral zinc (60 mg per day) and Group II served as control group without zinc supplement. Patients were followed for 18 months and we control height. Data was analyzed by SPSS 11.5 software by nonparametric and T test.

Results: The mean age and height of the patients in Group I were 8.14±1.30 year and 120.83 ±6.41cm, and in Group II, 8.27±1.14 year and 121.85 ±6.18cm, respectively. Eighteen months later the mean height was 125.14±6.17 cm in Group I and 126.1±6.07 cm in Group II (P = 0.464). No statistically significant difference in height was noted between the two groups after a period of eighteen months (P=0.464). Conclusion: The results of the research revealed that whereas the role of zinc has been proved in the growth process. It is concluded that oral zinc sulfate has no significant effect on linear growth of beta-thalassemia patients.

---

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority.

Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR) and direct sequencing was performed for all functionally important regions of the gene. Haplotype analysis was performed using three markers.

Results: We identified 24 point mutations and four small deletions (one novel mutation). Overall, 20 different mutations were found and patients with common mutations had identical haplotype.

Conclusion: These data confirm high molecular heterogeneity of the mutations causing hemophilia B and will enable carrier testing and prenatal diagnosis for family members.

---

Although rare, synovial sarcoma is the most common malignant non-rhabdomyosarcomatous soft tissue sarcoma in children and adolescents. Synovial sarcoma typically involves the soft tissues of the extremities, especially near large joints, but it can occur anywhere in the body in locations far from joint spaces. Although this tumor typically affects adults in their fourth decade of life, nearly half of the reported cases have been children and adolescents. We report a rare case of head and neck synovial sarcoma presented with tonsilar hemorrhage and painful facial contracture. Cervical computed tomography (CT) scan with contrast injection showed an asymmetrical respiratory tract image. Significant thickening of right (anterior) parapharyngeal soft tissue was revealed indicating a soft tissue mass. The mass was completely resected in a surgical procedure. In pathological examination of the mass, biphasic synovial sarcoma was reported. At first, we treated the patient with VIE (Vincristin, Ifosfamide, Etoposide),but because of the severe neutropenia and hemorrhagic cystitis, we changed the protocol to VAC (Vincristin, Actinomycine, Cyclophosphamide). The girl is 6 years old now and in a good condition without any pain or bleeding. Also, she has a normal cervical CT scan after more than two years. She is followed up every week and receives monthly Vincristin.

---

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas.

Materials and Methods: Two hundred eleven neonates with neonatal jaundice were studied for erythrocyte pyruvate kinase activity using the method recommended by International Committee for Standardization in Hematology (ICSH).

Results: In 22 the PK enzyme activity was below 60%, where the erythrocyte PK activity from 35 healthy cord bloods ranged from 3.9 – 9.8 IU/g Hb. Genomic DNA analysis for PK-R gene mutation was examined in 12 out of 22 cases (heterozygote 3.8%, 95% CI=0.012-0.064 homozygous 1.8%, 95% CI=0.001-0.036). All mutations in four homozygote and 8 heterozygote neonates in this cohort have been reported from the region previously, except for mutation G1675C that has not been found before. Therefore, the rate of recurrence of PK-R gene defect is 4 times more frequent in those with neonatal jaundice in comparison with the regional frequency (0.038).

Conclusion: Erythrocyte enzymopathies, especially PK deficiency, should be considered in the differential diagnosis of non-immune hemolytic anemia as well as for genetic counseling in our area.

---

Background: Anemia is common throughout the world, remarkably in developing countries. Our aim is to calculate normal hemoglobin and other hematological indices in southwest of Iran.

Materials and Methods: A random selection of 500 healthy males and 500 healthy females was done in the age group of 13 to 65 years. A complete blood count (CBC) was performed in all participants.

Results: Hemoglobin (Hb) level ranged from 13.80 to 18.40 g/dL with a mean value of 15.96 g/dL in males, and 12 to 15.90 g/dL with a mean value of 13.79 g/dL in females. Mean cell volume (MCV) ranged from 80 to 100.10 fL with a mean value of 86.63 fL in males, and 80 to 95.40 fL with a mean value of 86.80 fL in females. Red blood cell (RBC) count ranged from 4.5 to 7.07×10⁶/mm³ with a mean value of 5.57×10⁶/mm³ in males, and 4.17 to 6.84×10⁶/mm³ with a mean value of 4.88×10⁶/mm³ in females.

Conclusion: Although the normal range of various hematological indices of our study nearly were equal to that presented in the literature, some parameters differed such as maximum value of Hb in males, maximum value of hematocrit (HCT) in both sexes, range of MCV in females, and range of mean cell hemoglobin concentration (MCHC) in both sexes. The most prominent feature was the higher maximum value of RBC count in both sexes.

---

Background: The most important problem in regular transfusion dependent β-thalassemia major is cardiac dysfunction due to iron deposition in it. The aim of this study was to evaluate correlation between serum ferritin levels and cardiac function in β-thalassemia major in Mofid Hospital. Materials and Methods: There were 112 β-thalassemia patients with a mean age of 13.55± 6.12 years, of whom 49 were males and 63 were females. Patients enrolled in this study were divided into two groups group 1 (n=33) who were good users of chelation therapy with ferritin levels of <1500 ng/dl and group 2 (n=79) who were not good users of chelation therapy with ferritin levels more than 1500 ng/dl. Clinical history, physical examination, and laboratory investigations along with serum ferritin levels and echocardiography were assessed for all patients. Results: Overall ferritin levels were 200-8600 ng/dl. Mean ejection fraction was 64.72% and 63.30% in groups 1 and 2, respectively. There was not a significant difference between two groups. Mean fractional shortening were 29.30% and 28.82% in groups 1 and 2, respectively. Again there was not a significant difference.

Conclusion: This study has shown that there was no significant correlation between echocardiographic indices and serum ferritin levels in major β-thalassaemia. Thus, other methods should be used to evaluate cardiac iron burden.

---

Background: It is suggested that various forms of tobacco use have some effects on diverse sites of head and neck to develop cancer.

Material and Methods: The study examines data for oral cancer in male subjects, collected from the population registered in cancer registry during the year 2007- 2008. All the data collected were entered into the spreadsheets. The statistical package for social sciences (SPSS) software version 11.0 was used for data processing and data analysis.

Results: Smoking and chewing develops a high risk of oral cancer. Most of the tobacco consumers are in their 40s. People younger than 30 years used betel-quid in abundance (47.1%). Bidi was the choice of tobacco for 41-50 age group. In people with less than ten years duration of using tobacco products, gutkha was consumed in abundance (20.7%). For frequency of 6-10 times per day, smoking Bidi was consumed in 61.4% of instances.

Conclusion: The crux of the problem is that majority of the cases are reported with a significant delay to the health care facility. Nationwide counseling on tobacco cessation is required in a developing country like India.

---

Background: Hepatitis C virus (HCV) infection is the most common transfusion transmitted disease in poly-transfused patients worldwide. In this study we aimed to evaluate the effects of pegylated interferon alfa-2a (PEG-IFN A-2a) in reducing serum ALT and eradicating serum hepatitis C virus (HCV) RNA in HCV infected polytransfused thalassemic patients.

Materials and Methods: A cohort of 51 HCV-RNA positive thalassemic patients were enrolled to our study and received 180 µg PEG-IFN A-2a once-weekly for 48 weeks. The primary end point was sustained virological response (SVR). The secondary outcome was normalization of ALT. Patient safety was assured by monthly, and if needed, weekly laboratory assessment and visits.

Results: Of 52 patients, 42 participants completed the treatment schedule. A sustained virological response (SVR) was attained in 22/51 (43%) cases. Among non-responders or relapsers to previous HCV antiviral therapy, 9/27 (33%) attained an SVR. Five patients died during treatment and 3 subjects discontinued the therapy because of adverse effects. Adverse events were generally mild, and laboratory abnormalities were rare.

Conclusion: A course of 48-week PEG-IFN A-2a monotherapy is effective in eradicating HCV-RNA during treatment. But about one third of thalassemic patients would relapse within 6 months of treatment schedule completion, in whom combination therapy is needed.

---

Background: Hydroxyurea (HU) is a well known chemotherapeutic agent that has been used largely for various myeloproliferative diseases over the past 20 years. In β-thalassemia, the effect of HU is much less clear and remains controversial. This study was undertaken to describe the hematologic and clinical responses of thalassemia major and intermediate patients to HU treatment during 2 years.

Materials and Methods: Seventy one major and twenty transfusion-dependent intermediate thalassemia participants were selected among 150 β-thalassemia patients. All patients underwent laboratory tests, and the state of energy, social activity, tolerance, and mood were recorded in the beginning of the study. Echocardiography was carried out before and during treatment with HU. All patients were treated with HU the initial dose was 10- 15mg/kg/day given once a day.

Results: All the patients tolerated HU well and showed a dramatic response to the drug. Nine of 20 intermediate and 8 of 71 major patients became completely transfusion free. In 6 intermediate and 15 major patients, transfusion interval prolonged more than 50%. After treatment, 95% of intermediate and 81% of major patients described an increase in social activity. HU therapy was also associated with a marked decrease in serum ferritin level in major thalassemia patients.

Conclusion: HU may be administered in thalassemia major and intermediate patients to minimize or obviate the need for regular transfusion and concomitant iron overload. HU therapy appears to be safe and effective when administrated in thalassemia patients.

---

Background: Thalassemia is a series of hemoglobinopathies in which the production of perfect hemoglobin is completely or partially suppressed. Using injectable iron chelators have been dominating treatment for the iron overload caused by recurrent blood transfusions in thalassemic patients, however, a new oral iron chelating drug (Exjade) have been recently introduced and might be cost effective compared to previous treatment methods. This study was undertaken to evaluate the cost of Exjade in comparison with injectable iron chelators. Patients and Methods: In this retrospective study, we calculated the cost of iron chelation with Deferoxamine mesylate or Desferal in three groups of patients including those with optimum moderate and poor compliance. Afterwards, we compared the cost with the cost of iron chelation using Exjade. The cost of drugs and treatment for complications caused by iron overload were both taken into account. Results: The average cost of treatment per year with Deferoxamine mesylate was 85601032 Rials for patients with poor compliance, 62739714 Rials for patients with moderate compliance, and 50118376 Rials for patients with optimum compliance. In addition, according to the latest price of Exjade in Iranian market, we found out a regular oral iron chelation therapy using Exjade, with a dose of 20 mg/kg, to cost 76650000 Rials per year. Conclusion: Our findings indicate that using Exjade is cost-effective for those patients who have poor compliance to parenteral treatment. More investigations should be implemented to find the social and economic impact of Exjade therapy on quality of life among patients needing iron chelation therapy. Keywords: Thalassemia, hemoglobinopathies, iron chelating agents, deferasirox, deferoxamine

---

Background: Hb A2 is elevated in subjects with beta thalassemia minor but small percent of carriers have normal Hb A2 with elevated levels of HbF (2-10%). This type of thalassemia is called delta beta thalassemia, and can be missed in pre-marriage hematologic consults or screening which leads to increased risk of child birth with beta thalassemia major. Materials and Methods: In this prospective descriptive study, 17768 subjects participated from January 2007 to January 2008. Complete blood count was checked for subjects. If MCV was below 80 fl or MCH was below 27pg, HbA2 was checked with column chromatography. If HbA2 was higher than 3.4 %, subject was labelled as beta thalassemia minor. If HbA2 was normal, 45 days of iron therapy were started for patients whom serum iron, serum ferritin and total iron-binding capacity were in favour of iron deficiency anemia. CBC was rechecked after iron therapy and if MCV or MCH still was below normal range, HbF was checked using alkaline denaturation method as well as Hb electrophoresis. Patients with HbF in the range of 2-10% were diagnosed as delta beta thalassemia minor. Results: 17768 subjects were recruited in this study and 1326 subjects (7.4%) were diagnosed as beta thalassemia minor. 1133 of 1326 thalassemia minor subjects (85.4%) had MCV below 70 fl and 193 subjects (14.6%) had MCV between 70 fl and 80 fl. Three subjects from 17768 (0.01%) had normal HbA2 with HbF between 2% and 10% (delta beta thalassemia). Conclusion: It is very important to use Hb electrophoresis and check HbF by alkaline denaturation method for all people coming for pre-marriage hematologic consultation to detect delta beta thalassemia or other hemoglobinopathies. Keywords: Delta-Beta Thalassemia, screening, consultation, Iran.

---

Non-Hodgkin lymphoma is very uncommon in infancy and skin as the primary site of involvement in Non-Hodgkin lymphoma is rarely encountered. We describe a 10-month-old infant with T-cell Non-Hodgkin lymphoma who presented with multiple skin nodules as the predominant feature of her disease. The clinical manifestations, treatment strategy and disease outcome are reviewed. Key words: Non-Hodgkin lymphoma, T-cell, skin nodules, infancy.

---

Abstract Background: Iron overload is a clinical consequence of repeated blood transfusions and causes significant organ damage, morbidity, and mortality in the absence of proper treatment. The primary targets of Iron chelators used for treating transfusional Iron overload are the prevention of Iron ingress into tissues and its intracellular scavenging. The present study was aimed at elucidating the capacity of clinically important Iron chelator, deferoxamine to gain access to intracellular Iron pools of key Iron accumulating cells (hepatocytes). Material and methods: The study was conducted as an in vivo investigation. Iron-rich chow fed rats and regular chow fed rats were given deferoxamine and hepatic Iron concentration was measured using atomic absorption spectroscopy. Results: In Iron-loaded rats, the results showed that deferoxamine did not alter hepatocyte Iron levels compared with the control group but increased urinary excretion. Conclusion: We conclude that short term deferoxamine treatment is ineffective in Iron removal from rat hepatocytes. Key words: Deferoxamine, Iron overload, hepatocytes.

---

Synchronous cancer is referred to two or more histological distinct malignancies diagnosed during the same hospital admission. Globally more than 1 million people get colorectal cancer yearly resulting in about 0.5 million deaths. Vulvar cancer is the fourth most common gynecologic cancer (following the corpus uterine cancer, cancer of ovary and cervix) and comprises only 4 percent of malignancies of the female genital tract. Here we report a 63 year old female with diagnosis of synchronous vulvar carcinoma colorectal carcinoma. To our knowledge this patient is the only reported case with these two synchronous cancers without any special risk factor. Key words: Vulvar neoplasms, colorectal neoplasms, treatment.

---

Neuroblastoma is a common tumor in pediatric cancer and which might present with usual or unusual clinical features. One of the rare clinical finding of neuroblastoma is paraneoplastic syndromes. We report a two year-old girl with presentation of bilateral ptosis and abdominal pain which was diagnosed as having neuroblastoma. Our case is a very rare case of neuroblastoma accompanied by bilateral ptosis as a paraneoplastic syndrome . Keywords: Neuroblastoma, paraneoplastic syndrome, bilateral, ptosis.

---

Background: Transfusion is the mainstay treatment of patients with thalassemia major and occasionally in thalassemia intermediate. Alloimmunization is an unwanted side effect of blood transfusion. The present study intended to determine the frequency of alloimmunization in patients with β- thalassemia major and thalassemia intermediate in Southwest Iran. Patients and Methods: This was a cross-sectional study on 133 transfusion dependent β-thalassemia patients at Shafa hospital-in Southwest Iran. The method of antibody screening was the tube method. All panel test phases were done at immunohematology laboratory of Iranian Blood Transfusion Organization. Results: There were 66 males (49.1%) and 67 females (50.9%) with the mean age of 17.5 years (SD±7.5) included in this study. The antibody screening panel test was positive in 42 patients (32.06%). Twenty five patients (18.7%) had alloantibody and 17 patients (12.7%) also had autoantibody. The predominant pattern of alloimmunization was alloantibodies against RH sub groups system in 55 percent of patients and 33% of patients had alloantibodies against Kell system. Three important factors that significantly influenced the frequency of alloimmunization were: age at the first blood transfusion, splenectomy and β- thalassemia intermediate. Conclusion: Alloimmunization is a common complication among patients with transfusion dependent β-thalassemia in Khuzestan province, Iran. Matching the selected donors with recipients based on the extended red blood cell antigen typing may decrease the incidence of alloimmunization. Key Words: Alloimmunization, thalassemia major, thalassemia intermediate, RH blood group, Kell blood group.

---

Objective: Thrombotic thrombocytopenic purpura (TTP) is the most malignant variant of microangiopathy that usually presents by typical symptoms including thrombocytopenia, hemolytic anemia, neurological abnormalities, fever and renal impairment. Report of the Case: We report a 12-year-old male presented by cytopenia, fever, purpura on his extremities, seizure and lethargy. Peripheral blood smear revealed low platelet and increased schistocyte, but renal function tests were normal. Final diagnosis of TTP was confirmed by measuring ADAMTS-13 autoantibody (> 60). Conclusion: Atypical TTP can presents without renal impairment. In these cases the measurement of ADAMTS-13 activity as a specific test as well as ruling out secondary TTP should be considered. Key word: Renal dysfunction, thrombotic thrombocytopenic purpura, ADAMTS-13.

---

Background: Recently, some new viruses have been identified for their association with hepatitis which Torque Teno Mini Virus being among them. The aim of this study was to determine the frequency of Torque Teno Mini Virus in healthy individuals and hepatitis B and C patients in Isfahan, Iran. Materials and Methods: One hundred serum samples of healthy individuals from Isfahan Blood Transfusion Organization were collected. A total of 25 human serum samples from hepatitis B and 25 samples from hepatitis C infected patients were also collected from Mahdieh diagnostic laboratory in Isfahan, Iran. Viral DNA was extracted and Torque Teno Mini Virus DNA was detected using a nested PCR with primer sets designed for a conserved region of the Torque Teno Mini Virus genome. PCR and Reverse transcriptase PCR were used for detection of HBV and HCV respectively. Results: Torque Teno Mini Virus -DNA was detected in 17% of healthy individuals. It also was detected in 20% and 48% of serum samples from hepatitis B and C infected individuals, respectively. The frequency of Torque Teno Mini Virus was significantly higher in hepatitis C patients versus healthy individuals (P < 0.05). Also, the frequency of TTMV in hepatitis C patients was significantly higher than hepatitis B patients (P < 0.05). Conclusions: The difference in Torque Teno Mini Virus frequency between the hepatitis C and healthy group was significant (P< 0.05). The etiology of the higher infection rate in hepatitis C individuals needs to be determined. Keywords: Torque Teno Mini Virus, Hepatitis B, Hepatitis C, PCR.

---

This is a picture review of a case of orbital rhabdomyosarcoma. The course of patients diagnosis, treatment and outcome is briefly presented.

---

Background: 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 Methods: 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. Results: 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. Conclusion: 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. Keywords: Hepatitis B virus, genotype D, PCR, Isfahan, Iran.