[Comparison of quality of life in adolescences with thalassemia and their families]

Introduction: The impact of thalassemia major and thalassemia intermedia and their associated complications on quality of life is largely unknown. Determining the degree of health impairment as perceived by the patient is essential information needed to recommend suitable therapy. The impact of thalassemia and its complications on the quality of life of these patients and families perspective has been little studied. The aim of this study was to Comparison of quality of life in adolescence with thalassemia and their families

Method: In this descriptive-analytical study, the quality of life of 90 adolescences upper than 18 years with thalassemia who returned to Shafa hospital of Ahwaz in 2007-2008 was studied using a demographic and quality of life questionnaire [SF36]. The participants were chosen based on a non-randomized sampling. The data was analyzed using descriptive analysis and t-test

Results: The mean quality of life in patients was 70.25 +/- 17.17 and in their parents was 67.44 +/- 16.59. Significant difference has shown between social activities of two groups [P<0.012]. There was no difference between other points of views

Conclusion: Presented data suggest that thalassemia patients and family members in social functioning, which were most affected, will be the special focus in the interventions

[Study of exon deletion in the dystrophin gene in individuals being diagnosed with duchenne muscular dystrophy in Ahvaz]

Duchenne muscular dystrophy is an X-linked genetic disorder resulting from mutation or deletion in the Dystrophin gene. The aim of this study was to evaluate the primary diagnosis of affected individuals that have been referred to the genetic lab of the Shafa hospital in Ahvaz. Progressive muscle weakness was present in all the patients. DNA from peripheral blood was extracted from affected patients and subsequent multiplex-PCR was performed to determine putative deletions in the Dystrophin gene. in 53% of cases were deletions identified in exons 44-51 in the Dystrophin gene and therefore the clinical diagnosis could be confirmed. On the other hand, we found no deletion in 47% of cases. it seems that the patients suffering Duchenne muscular Dystrophy in Ahvaz show, independent to their ethnicity, the gene inactivating deletion in the end part of the Dystrophin gene. These results would be used for the differential and for the prenatal diagnosis in the Khuzestan province

Determination of serum C and S protein and factor V leiden in sickle cell disorder in Khozestan province

Sickle cell disease [SCO] is due to beta chain mutation and substitution of valine for glutamic acid in sixth position,that is cause increasing polymerization and vaso-occlusion. Decrease of protein C, protein S and increase in factor V leiden activity contribute to hypercoagulation state in SCO, recently.The aim of this study was to determinate the differences of serum C and S protein and factor V leiden between sickle cell patients and control subjects. In this randomized case-control study, protein C, protein S and factor V leiden activity were measured in 100 SCO patients in crisis phase. And were compared between 50 age- gender -race- matched controls and SCD patients in, hydroxyurea intake, blood transfusion, levels of HbF, age and gender by Chi-Square and Anova statistical tests in SPSS software. In 100 patients 47 were males and 53 females, mean age was20.2 [range 3-58, 1SD +/- 1.03]. Protein C and protein S levels were significantly low [both P<0.0001] in 35% and 24% patient; respectively. But in controls it was not like this. Factor V leiden was increased significantly [P<0.00l] in 27% of patient and 4% of controls. A significant [P=0.02] correlation was detected between protein S levels and age groups. Protein C and protein S levels reduced and factor V leiden activity increased in SCD patients and cause hypercoagulable state in these patients

[Determination of clinical prevalence and predominant pattern of RBCs alloimmunization among transfusion dependent thalassemic patients in Ahvaz]

The mainstay of management of severe beta-thalassemia remains lifelong blood transfusion. The development of one or more alloantibody against specific red cell minor antigens is a common complication of chronic transfusion therapy. Delayed hemolytic transfusion reactions are due to alloantibodies cause increased blood requirement in transfusiondependent beta-thalassemia patients. This study was performed to detect the frequency and predominant pattern of alloimmunization in the target population. This is a cross-sectional study carried out on 133 transfusion- dependent beta-thalassemia patients referring to Shafa hospital-Ahvaz. Antibody screening and identification technique employed was tube method. All panel test phases were done at immunohematology laboratory of Iranian Blood Transfusion Organization. Among the selected patients, 66 were males [49.1%] and 67 were females [50.9%], with a mean age of 17.63 years [SD +/- 7.6]. The antibody screening panel was positive in 42 patients [31.57%], of whom 25 patients [59.52%] had alloantibody and 17 patients [40.50%] additionally had autoantibody. The predominant patterns of alloimmunization were anti-Rh [55%] and anti-Kell [33%]. Frequency of alloimmunization were significant with increasing duration of transfusion [P=0.01], history of splenectomy [P=0.03] and beta-thalassemia intermedia [P=0.02]. Alloimmunization was a common complication in our transfusion-dependent beta-thalassemia patients. It's recommended that before embarking on transfusion therapy, patients should have extended red cell antigen typing that includes at least Rh and Kell blood grouping, in order to help reduce the likelihood of development of immunological responses later

Results of chemotherapy by UKCCSG protocol in children with acute lymphoblastic leukemia: clinical characteristics and outcome

Acute lymphoblastic leukemia [ALL] represents a clonal expansion and arrest of normal lymphoid hematopoiesis. ALL remains the most common malignancy in children. The survival rate of the patients is significantly increased since the 1960s. This study was undertaken to evaluate the 5- year overall survival [OS] rates of patients with ALL in a single center in Iran. A total of 220 children with ALL up to 15 years old who had been treated by UKCCSG protocol at the Oncology Department in Shafa Hospital from March 1997 to October 2004 were evaluated for their age, gender, as well as FAB types, presenting features, outcomes of therapy and relapse. The mean age of the patients was 6.69 years [SD= 3.8, median 6 years]. In this series, 123 patients [55.9%] were male. There was a complete remission induction rate of 85.5% during first induction course of therapy. Five-year overall survival was 60.9% and it was better [p=0.006] in standard risk group. Relapse rate after first remission was 23.6% and death due to relapse was more in high risk group, but it was not significant [p=0.053]. There were 59[68.6%] of total deaths in induction period and 18[20.9%] after relapse. Overall infections [69.4%] were major cause of deaths in induction period. OS was better in boys, age group between [1-10 yo] and initial white blood cells count [10,000-50,000x10[3]/mm[3]] but there were not significant [p=0.39, p=0.30, p=0.202, respectively]. Five-year overall survival was 60.9% of the children with new ALL who were undergoing chemotherapy by UKCCSG protocol. High mortality rate in induction period was mainly due to infections which decreased five-year overall survival in this study

Evaluation of RT-PCR to detect translocations in children diagnosed with acute lymphoblastic leukemia

Acute lymphoblastic leukemia [ALL] is the most common subtype of childhood cancer. Chromosomal abnormality, specially the replacement of chromosomal material is one of the main reasons in generating leukemia, wherein the kind of translocation play a key role in managing the remedy. The goal of the present study was to develop a reliable, rapid, and cost effective method to detect translocations, which are the main sources of leukemia. Twenty seven samples were collected from leukemia affected individuals that were referred to the Shafa Hospital in Ahwaz from summer 2007 to spring2008. Total RNA was extracted from one milliliter whole blood, and then reversely transcribed using reverse transcriptase. Finally, multiplex RT-PCR was performed for each sample. Cell lines [K562, Jurkat E 6.1] that are harboring known translocations were used as positive control, with additional internal control to prove false negative results. Translocations t [9; 22], t [12; 21], t [1; 19] and t [4; 11] were observed in patients that have been diagnosed with the ALL, respectively. No Translocation has been seen in individuals suffering lymphoma. Multiplex RT-PCR assay is an effective, sensitive, accurate, and cost-effective diagnostic tool, which can improve the ability to accurately and rapidly risk-stratify patients that were diagnosed with acute lymphoblastic leukemia

Results of chemotherapy with BFM-87 protocol in children with acute myeloid leukemia at a referral center in the southwest of iran: clinical characteristics and outcome

Leukemia is the most common malignancy in childhood, and acute myeloid leukemia [AML] is the second most common leukemia. AML still accounts for more than 30% of deaths from leukemia. AML is classified into several subgroups from M0 to M7 with different presentations, clinical features, and outcomes. Between March 1996 and October 2003, 47 children with acute myeloid leukemia were treated with intensive chemotherapy using BFM-87 protocol after remission at Shafa hospital, Ahwaz, Iran. We compared the presenting features and outcomes of therapy in these children based on age, initial White Blood Cells [WBC] count, Central Nervous System involvement, FAB system types, and response to first induction treatment. Younger children were more likely to have favourable risks and less likely to have induction deaths [p=0.03] and lower relapse risks [p=0.001]. FAB types M2 and M4 showed a better first remission rate [p=0.01, p=0.02, respectively], regardless of age and gender. Two major risk factors for relapse after first remission were initial high WBC counts [p=0.01] and older age at the time of diagnosis [p=0.02]. Overall survival [p=0.001], event-free survival [p=0.001], and disease-free survival were better [p<0.001] in younger children due to lower relapse rates [p=0.001]. Overall survival was 53% in the children with new AML who were on intensive chemotherapy with a median follow-up time of 5 years in our study. Relapse risk after first remission for the children who were on intensive chemotherapy alone was 34% in our study. Because of the potential morbidity and mortality usually related to allogeneic HSCT and also problems due to lack of sufficient HSCT possibility for some patients, several cooperative group trials now do not recommend HSCT for good- or standard- risk patients in their first remission. Results of our study were compatible with BFM, AML 10 and AML 12 groups trials in terms of overall survival, or relapse risk, or induction death risk factors

[Successful treatment of refractory thrombotic thrombocytopenic purpura with rituximab, a monoclonal antibody: a case report]

Thrombotic thrombocytopenic purpura [TTP] is mostly attributed to the presence of an autoantibody against ADAMTS-13, a metalloprotease that degrades ultralarge von Willebrand protein multimers. Accumulation of vWF multimers and systemic platelet aggregation lead to microangiopathic thrombosis, hemolytic anemia, and end-organ ischemia. Most patients respond to therapeutic plasma exchange [TPE], which replaces the missing protease and removes the circulating inhibitor. However, some cases [10%-20%] might not respond to TPE alone, and, therefore, interest has been aroused to use the novel immunosuppressive anti-B-cell antibody, rituximab. We report a 12-year old male patient with severeTTP refractory to multiple courses of plasmapheresis and high-dose steroid treatment in whom the combined use of daily plasma exchange and rituximab was associated with clinical resolution of active TTP, and we discuss the benefits and possible timing of combined therapy. Retuximeb used with plasma exchange can lead to sustained clinical remission in patients with refractory autoimmune TTP

Comparison of different indices for better differential diagnosis of iron deficiency anemia from beta thalassemia trait

Iron deficiency anemia [IDA] and beta thalassemia trait [TT] are the most common forms of microcytic anemia. Some discrimination indices calculated from red blood cell count and red blood cell indices are defined and used for rapid discrimination between TT and IDA. Youden's index is the most reliable method to measure the validity of a particular technique, because it takes into account both sensitivity and specificity. We calculated 10 discrimination indices [Mentzer Index, England and Fraser Index, Srivastava Index, Green and King Index, Shine and Lal Index, red blood cell [RBC] count, red blood cell distribution width, red blood cell distribution width index [RDWI], Mean Density of Hemoglobin per Liter of blood [MDHL] and Mean Cell Hemoglobin Density [MCHD]] in 170 patients with IDA and in 153 patients with p TT [pTT]. We divided the patients into two different age ranges of 1 to 10 and 10 to 57 years. We determined the number of correctly identified patients by using each discrimination index. None of the indices showed sensitivity and specificity of 100% in the latter group; it was just Shine and Lal Index [S and L] that showed a sensitivity close to 90% and specificity of 100% in the former group. The accuracy order of these discrimination indicies from higher to lower for the former was Shine and lal > RBC Count > Srivastava > Mentzer > England and Fraser > Green and King > RDWI > RDW and in the latter RDWI > RBC count > Mentzer > England and Fraser > Srivastava > RDW > Shine and Lal > Green and King. Youden's index for Shine and lal and RBC Count, and for RDWI and RBC Count has the highest diagnostic value in the former and latter groups respectively. Mean Cell Hemoglobin Density [MCHD] and Mean Density of Hemoglobin per Liter [MDHL] did not show any diagnostic value. None of the indices was completely sensitive and specific in differentiating between PTT and IDA. MCHD mean and median were very close to normal values for both IDA and PTT patients, but in case of MHDL we have found mean and median values being significantly higher than normal values in pTT and lower in IDA patients. In our study, Youden's index of RBC count and RDWI were the highest ones and they were the most reliable discrimination indices in differentiating PTT from IDA in the latter group while for patients in the former RBC and S and L were the most reliable discrimination indices

Determination of antibodies [IgG, IgM] against toxoplasma gondii in patients with cancer

The aim of this study was determination of antibodies [IgG, IgM] against Toxoplasma in malignant patients in order to refer the patients on time to the physician for treatment. This study was carried out on 252 malignant patients and 252 healthy normal subjects [as control] obtained from Shafa Hospital and Medical Diagnostic Laboratory [Iran-Zamin], in Ahwaz city. Patient's information was recorded in a questionnaire before sampling. Serum samples of patients were examined for IgG and IgM antibodies by ELISA technique using Trinity kits. The results of this study revealed the presence of Toxoplasma antibodies in 114 [45.2%] cases of patients who were positive for Toxoplasma IgG antibodies, and 26 [10.3%] cases were confirmed to be positive for Toxoplasma IgM antibodies and also 17 [6.7%] of cases had both IgG and IgM antibodies against Toxoplasma gondii. In control group 92 [36.5%] cases and 15 [6%] cases revealed seropositive for IgG and IgM antibodies, respectively. There were no significant differences between sex, close contact with cat, living region, chemotherapy, and seropositivity rate of toxoplasmosis in patients. Comparing the age groups, the highest seropositive rate showed in the age of 51 years or higher, and their rates had tendency to increase with age in both groups. No seropositivity significant relationship was found between patients and control group. According to the prevalence of positive cases in these patients, it is necessary to examine the patients for toxoplasmosis before, during and after chemotherapy

Determination of serum lipoproteins in beta-thalassemia trait and their relationship to chronic hemolysis

100 patients with beta-thalassemia trait, comprised of 55 men and 45 women, participated in a study to measure serum lipoproteins. The results were compared with the data obtained from 100 control subjects of the same age and sex. A significantly lower level of mean serum total cholesterol and LDL cholesterol, and a much higher level of HDL cholesterol were obtained in beta-thalassemia trait as compared to control groups. This study was carried out in order to find the effect of mild hemolysis on serum lipid composition