Repeated Blood Transfusions Research Articles

Iron overload, its causes and complications

Iron overload shows bioaccumulation of iron in the cells of body due to any reason or factor in the field of biology and medicine. The underlying mechanisms and causes may vary and also the physiology and pathology. The most prominent causes of iron overload are hereditary haemochromatosis (HHC) and iron overload due to blood transfusions [1]. These two causes of iron overload can result from repeated blood transfusions. Iron overload can be prevented by regulating iron absorption in most humans. People with elevated levels of iron in the body get disorders of iron overload and iron overload in the body is the risk factor for many cancers. Iron overload happens in those persons with impaired iron absorption regulation mechanisms. Iron overload caused by transfusions causes malfunctions of the liver, heart and endocrine organs. Problems may begin after 30 units of red blood cells or even earlier [2].
 Human body has the regulatory mechanism to lessen the amount of iron that is absorbed by the cells through digested food. However, it doesnot completely ceases or blocks the iron transportation pathway, even in the circumstances, where the extra iron deteriorates the linings of intestine e.g. if children consume heavy dosage of iron tablets produced for adults, even this more quantity of iron may cause fatal syndrome of iron overload via bloodstream. Increased amounts of free iron in blood stream will damage the hepatic, cardiac and other cells which are involved in metabolic pathways. Iron overload also causes hepatocellular carcinoma [3].
 Generally iron overload is a risk factor for cancer and this hypothesis is supported and accepted by many experiments, studies and human data. An overproduction of reactive oxygen species and free radicals could explain its oncogenic effect. Among the many factors (viral hepatitis, alcohol, tobacco etc.) which play a role in carcinogenesis, iron overload is probably an important one and therefore should be diagnosed and treated well especially at their early stages treated [4].

Hematopoietic Cell Transplant for Adult Patients with Severe Sickle Cell Disease: Improving Outcomes and Improving Options

▪Introduction:The estimated number of newborns with sickle cell disease (SCD) globally will increase from about 300,000 to more than 400,000 by 2050 according to current projections. Improved newborn screening, better supportive care, use of hydroxyurea therapy have decreased early childhood mortality among individuals affected with SCD, but the mortality in affected adults remains largely unchanged. Despite hematopoietic stem cell transplant (HCT) being curative in SCD, its impact on disease free survival remains unknown, partly due to limitation in donor options and perceived mortality in adults using myeloablative conditioning. Novel non-myeloablative and reduced intensity conditioned protocols have made HCT available to adult SCD patients who were previously excluded. Compared to the disease burden, HCT attempts globally is relatively small. Primary reason for this disparity is the non-availability of adequate donors, referral bias, procedure risks, costs and limited logistic resources in both the developed and the developing world. Our study focuses on recent outcomes of HCT for adult patients with SCD, with particular emphasis on comparative outcomes in pediatric patients transplanted for severe SCD.Methods:A comprehensive electronic search was conducted based on strict selection criteria for studies for meta-analysis. Adults, older than 16 years with SCD of all phenotypes, both genders and in all settings. All pediatric SCD studies were excluded. Outcome measures include:median overall survival (OS), freedom from treatment failure (FTF), mortality (overall and at 100-days, and 1-year post-HCT), transplant-related mortality (TRM), acute graft versus host disease (aGVHD), chronic graft versus host disease (cGVHD), progression free survival (PFS), incidence of late organ complications, graft rejection with recurrence or persistence of SCD. We found 391 articles with the above-mentioned keywords, out of which 177 were shortlisted and among these only 28 articles met our inclusion criteria.Results: GVHDIn 28 studies, only 16 showed the presence of GVHD in adults, while only five studies showed a high incidence of severe GVHD as in Table 1. Graft RejectionWe did not find a high incidence of graft rejection compared to historical controls in pediatric populations, however, multiple exposures to the blood transfusion prior to HCT and usage of chelation therapy for iron overload in the body system due to the repeated blood transfusion were found to be associated with increased incidence of graft rejection. Adult HCT studies showed a very low incidence of graft rejection once above-mentioned risk factors had been controlled (tables 1 and 2). OSWe observed a similar transplant outcome, seen in pediatric HCT for SCD, were the unavailability of a healthy HLA-identical sibling lead to alternate donor transplantation, with associated increase in overall mortality, though no association was found on overall survival in relation to age of patient. Nine studies reported median OS of 100%, and two studies found a 70-80% overall survival (tables 1 and 2). PFSSixteen studies included in our study revealed an acceptable PFS of more than 90%, whereas four studies revealed PFS of below 90% (87%, 85%, 82%, and 68% respectively) (table 1). TRMWe observed that TRM has significantly reduced over the past few years. Most optimum outcomes were observed when recipients had good functional status at baseline. The main causes of death in transplanted patients were found to be sepsis, hemorrhage, severe lung injury and CNS hemorrhage with organ failure (table 1-2)Conclusions:Clinical data from current studies in our review demonstrate improved outcomes using HCT as a curative therapy for adults with SCD. However, lack of suitable HLA-identical sibling and matched unrelated donors severely limits accessibility of HCT therapy for eligible adults with SCD. Encouraging preliminary results using umbilical cord blood and haploidentical transplantation for SCD may solve the problem of this rarity. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Large Deletions and Novel Mutations in Genes Coding for Ribosomal Proteins (RPL11, RPL35A, RPS19) in the Czech National Registry of Diamond-Blackfan Anemia (DBA)

Background: 50-70% cases of Diamond-Blackfan anemia (DBA) are underlied by mutations in genes coding for ribosomal proteins (RP), however, the etiology remains unexplained in the remaining patients. Recently, rare aberrations involving extraribosomal genes (e.g., GATA1, TSR2, MCM2, FLNB) have been reported as causative for DBA. Up to 10% of all DBA patients harbor large deletions involving some of the RP genes, which were not previously identified by sequencing.Patients and Methods: Czech National Registry, containing data of 56 patients with DBA from Czechia and Slovakia (both children and adults), has a high detection rate of RP gene mutations (currently 82%). Using exome sequencing (Agilent SureSelect v6 Kit, HiSeq 2500 sequencer, Illumina) and array comparative genomic hybridization (aCGH, SurePrint G3 CGH+SNP microarray, 4x180K, Agilent), we examined periferal blood samples of patients without any proven mutation in RP genes. Identified mutations were verified by Sanger sequencing at the gDNA and cDNA level and their functional impact was studied in a cell culture (RPS11-deficient MRC-5 fibroblasts).Results: Novel mutations, previously unpublished and unrecorded in gene databases, or large deletions involving RP genes were found in 5 patients with DBA:1)In a 10-year-old female with growth and developlmental delay, severe skeletal anomalies (hypertelorism, high-arched palate, low-set ears, triphalangeal thumbs) and with a markedly elevated activity of erythrocytic adenosine-deaminase (eADA), a large deletion in 1p36 chromosomal region - arr[hg19] 1p36.12p36.11(22308520_24074348)x1 - involving the RPL11 gene was found. Depletion of RPL11 in a cellular model resulted in attenuation of proteosynthesis and cell cycle and in the disruption of nucleolar morphology.2) In a 4-year-old female with transfusion-dependent DBA, large deletion of the 3q29 region - arr[hg38] 3q29(194309533_197837049)x1 - including the RPL35A gene was detected. The patient's height is at the 10th percentile, but her weight is below the 3rd percentile. Mild intellectual disability and both atrial and ventricular septal defect are present.3) A 4,5-year-old male with transfusion dependency, iron overload and hepatopathy harbors mutation in RPS19 - hg38[19:41869031_C>T], RPS19 p.A58V. The patient's father with an identical mutation required repeated blood transfusions in childhood (until 6 years of age) due to hypoplastic erythropoiesis. To date, all parameters of his blood count are normal without any intervention, only his eADA level is slightly elevated.All above mentioned patients are treated with leucine.4) A 3-year-old male with normal phenotype harbors mutation hg38[19:41860841_A>T] in RPS19 leading to premature stop codon K23Stop.5) Mutation in RPS19 : c.[3G>A], p.M1I in an 1 year old boy whose DBA is transfusion dependent and resistant to steroids.Conclusion: Together with next generation sequencing, aCGH examination is essential for detection of novel genetic defects in DBA due to its capacity to detect larger chromosomal aberrations. Reports on 3q29 deletions involving RPL35A are scarce (only 7 cases published to date). Suggested connection between deletions, leading to haploinsufficiency of RP genes, and growth retardation (Kuramitsu et al., Blood 2012) was confirmed only for RPL11 but not for RPL35A in our study. Phenotypic differences between family members harboring the novel identical RPS19 aberration are probably influenced by epigenetic regulation and we have already observed this phenomenon in individuals with RPS7 and RPS19 mutation (Maceckova et al., ASH 2016).Supported by: AZV 16-32105A, NPU LO 1304, GA15-13732S DisclosuresNo relevant conflicts of interest to declare.

Zinc levels in Beta-Thalassemia Major: A Review of the Literature

Objective: Zinc is an essential trace element for the body that is involved in various significant body functions such as protein synthesis, DNA synthesis, and cellular growth. It is found in almost every cell and plays an important role in the immune system, affecting both innate and acquired immunity. Patients with beta-thalassemia major are at risk of zinc deficiency. Beta-thalassemia major is an inherited disease caused by a reduction or complete absence of beta-globin chains and the affected patients need repeated blood transfusions to survive. Accordingly, it causes oxidative stress and tissue damage, alteration of antioxidant enzymes, and changes in other essential trace element levels due to iron overload. Zinc levels in beta-thalassemia major patients were reported to be significantly reduced in most of the studies. Serum zinc levels of the patients with beta-thalassemia major should be monitored regularly and zinc supplementation should be provided to these patients.

Correlation between Ferritin Levels with Malondialdehyde and Neutrophil Lymphocyte Ratio on Iron Overload

Thalassemia major is one of the types of thalassemia that need a routine blood transfusion. If not treated immediately, the patient will only last for 1-8 months. Blood transfusions performed at least or more than 10 times causes iron overload. Excess levels of Fe ions in the body will be stored in the form of ferritin. If the ferritin level is high, cell damage will occur in the presence of a fat peroxidation reaction or Malondialdehyde (MDA). Cell damage can trigger proinflammation, which increases neutrophil counts and decreases lymphocyte counts. The Neutrophil-Lymphocyte Ratio (NLR), which measures the ratio between Absolute Neutrophil Count (ANC) divided by Absolute Lymphocyte Count (ALC) with a manual peripheral blood picture. This study aimed to determine the correlation of ferritin levels with MDA and NLR in iron overload. This study used an analytical observational design with a cross-sectional approach, with samples were thalassemia patients who received repeated blood transfusions at the General Hospital Dr. R Soetrasno, Rembang City and Regional General Hospital Dr. R Soedjati, Grobogan Purwodadi. Inclusion criteria were age 10-18 years, transfusion 10-20 times, normal body temperature. Exclusion criteria were Fe therapy orally, leukocytosis, chronic kidney disease. In the MDA levels, there was no significant difference where p=0.25 by Spearman test. In the NLR there was no significant difference where p=0.91 by Spearman test. There is no correlation between ferritin levels with MDA and NLR in iron overload.

Effect of Puppet Play Therapy on Anxiety in Preschoolers with Thalassemia at the Thalassemia Polyclinic at Al-Ihsan Baleendah Hospital, Bandung Regency

Thalassemia is one of the top eight catastrophic diseases. Data from Yayasan Thalasemia Indonesia dan Perhimpunan Orang tua Penderita Thalasemia Indonesia (YTI/POPTI) have shown that in Indonesia the number of cases of this disease increased from 2011 to 2015. Preschool-aged children who experience thalassemia every month are subjected to invasive measures such as blood transfusions. Repeated blood transfusions make children feel threatened and can trigger various responses, one of which is anxiety. Anxiety is an emotional response to something dangerous, closely related to feeling uncertain and helpless. Puppet play therapy can reduce anxiety in children with thalassemia who undergo blood transfusions. This study aims to determine the effect of puppet play therapy on anxiety of preschool children (3-6 years) with thalassemia at the Thalassemia Polyclinic at Al-Ihsan Hospital, Bandung. The design used in this study used a quasi-experimental study with a one group pre-post test design without control approach using the Wilcoxon test. The number of samples in this study were 30 respondents who were taken by total sampling technique. The instrument used refers to the content / research theme developed from the Spence Children Anxiety Scale. The results of the Wilcoxon statistical test obtained a significance figure, namely p = 0.009, thus p <α (0.009 <0.05), then H0 is rejected. It can be concluded that there are differences in the level of anxiety of children with thalassemia before and after being given puppet play therapy.
 
 Keywords: puppet play therapy; worry; preschool; Thalassemia

Investigating the prolongation of blood transfusion frequency in thalassemic children by omega 3 fatty acid and protein supplementations through milk

<p class="abstract"><strong>Background:</strong> Thalassemia is an inherited genetic hemoglobin disorder wherein, afflicted child is born when both parents are carriers for defective alpha or beta hemoglobin gene. The thalassemias are the most common genetic disorder on a worldwide basis. The requirement of frequent blood transfusions in these patients pose a substantial burden on the health care system.</p><p class="abstract"><strong>Methods:</strong> A prospective observational study was conducted across 6 months (July 2018-December 2018) in a tertiary care hospital, Pune. The present study included 30 registered patient & their past 6 months record of blood transfusion (esp frequency), previous hemoglobin levels, height & weight. All these parameters were compared 6 months after supplementation with Omega 3 fatty Acids & proteins.</p><p class="abstract"><strong>Results:</strong> Total 16 of 28 patient showed that the average durations between two blood transfusions was increased by minimum 01 day to a maximum of 5 days. The average number of blood bag required was less than required blood bags in the period of pre supplementation. 20 of 28 patients showed a rise in hemoglobin level from a range of 0.5 to 1.2 gm/dl. </p><p class="abstract"><strong>Conclusions: </strong>In a country like India, with the high frequency of hemoglobinopathies, causing increased burden on the society, it is necessary to control the incidence by effective steps. Low cost and easily administered supplementation by omega 3 fatty acid and proteins may reduce the requirement of repeated blood transfusion along with increase in hemoglobin level. Implementation of carrier screening program offering genetic counseling and prenatal diagnosis followed by selective termination of affected cases would help in preventing the disease.</p>

Late-onset hyporegenerative anemia in an infant with rhesus isoimmunization

Late-onset anemia is a complication of hemolytic disease of fetus and newborn. It includes late hemolytic anemia and late hyporegenerative anemia. This case report is to discuss an Rh isoimmunized infant who presented with late-onset hyporegenerative anemia. The infant had low reticulocyte count, negative direct antiglobulin test, high erythropoietin, and high ferritin levels. She was treated with repeated blood transfusions and improved after 4 months of age. The follow-up of infants with Rh isoimmune hemolytic disease is needed for identification of late-onset anemia.

Chronic Lymphocytic Leukaemia Presenting with Pancytopenia: ARare Haematological Coincidence

Chronic Lymphocytic Leukaemia (CLL) is commonly associated with autoimmune cytopenias but CLL presenting with pancytopenia is a rare occurrence. Here, we present a case of 56-year-old male patient, who presented with pallor, mild hepatosplenomegaly, right-sided pleural effusion in chest x-ray, pancytopenia and his bone marrow showed infiltration by mature appearing lymphoid cells making a diagnosis of CLL. Despite the frequency of these immune mediated cytopenia, only few cases of pancytopenia have been described so far to the best of our knowledge. Hence, to emphasise the rarity of such haematological coincidence we are presenting this case report. CLL generally presents with persistent absolute lymphocytosis on peripheral smear with an absolute monoclonal lymphocyte count of more than 5000/cumm. There is a common association with Autoimmune Haemolytic Anaemia (AIHA) and Immune Thrombocytopenia (ITP) and the association is called as Evan’s syndrome. Its pathogenesis is associated with autoimmune process. AIHA, ITP, and Pure Red Cell Aplasia (PRCA) are commonly associated complications seen in CLL. The pathogenesis of AIHA and ITP are antibody this inplace of the reactions and abnormal T cell activity is noted in the pathogenesis of PRCA. Despite of the frequency of these immune mediated cytopenias noted in CLL, bone marrow was seen to be hypercellular in most of the cases and marrow hypoplasia have been reported in only 2 cases reported in literature so far. In the present case, although pancytopenia was present on peripheral blood smear examination but bone marrow was hypercellular for age with diffuse infiltration by monoclonal mature appearing lymphoid cells which makes this case all the more interesting. Despite repeated blood transfusions,antiviral drug Tenofovir and aggressive supportive measures for 6 months, he developed right-sided pleural effusion and succumbed to his illness.

Delaying Blood Transfusion in Thalassemic Children with Supplementation of Omega 3 Fatty Acids and Protein: A Novel Strategy

Background: Thalassemia is an inherited genetic hemoglobin disorder wherein, afflicted child is born when both parents are carriers for defective alpha or beta hemoglobin gene. The thalassemias are the most common genetic disorder on a worldwide basis. The requirement of frequent blood transfusions in these patients pose a substantial burden on the health care system. Methods: A prospective observational study was conducted across 6 months (July 2018-December 2018) in a tertiary care hospital, Pune. The present study included 30 registered patient and their past 6 months record of blood transfusion (esp frequency), previous hemoglobin levels, height and weight. All these parameters were compared 6 months after supplementation with omega 3 fatty acids and proteins. Results: 16 of 28 patient showed that the average durations between two blood transfusions was increased by minimum 01 day to a maximum of 5 days. The average number of blood bag required was less than required blood bags in the period of pre supplementation. 20 of 28 patients showed a rise in hemoglobin level from a range of 0.5 to 1.2 gm/dl. Conclusion: In a country like India, with the high frequency of hemoglobinopathies, causing increased burden on the society, it is necessary to control the incidence by effective steps. Low cost and easily administered supplementation by omega 3 fatty acid and proteins may reduce the requirement of repeated blood transfusion along with increase in hemoglobin level.

Evaluation of the relationship between hepatic and cardiac iron overload with MRI T2* and carotid intima media thickness with Doppler ultrasound in beta thalassemia major patients

Background: Iron overload is caused early progression of atherosclerosis in beta thalassemia patients due to regular repeated blood transfusion. MRI T2* is a gold standard non-invasive method for detecting hepatic and cardiac iron overload. The aim of this study was the comparison of carotid intima media thickness (CIMT) in the patients and healthy control groups with Doppler ultrasound for early diagnosis of atherogenesis. Another purpose was to assess the relationship between CIMT and iron overload among patients. Materials and methods: This cross-sectional study was performed on twenty patients referred to the Sarvar clinic and twenty age- and sex-matched control group. The CIMT was measured with Color Doppler ultrasound in both groups. Then, MRI T2* results, demographic, and therapeutic information were extracted from their documents. Results: CIMT was insignificantly higher in the patients compared to the control group. For example, it was 0.49 ± 0.05 vs. 0.45 ± 0.03 (p = 0.009) for the right common carotid artery (RCCA) and 0.48 ± 0.06 vs. 0.46 ± 0.04 (p = 0.17) for the left common carotid artery (LCCA). There was no strong relationship between CIMT and age (p = 0.09 for RCCA, p = 0.00 for LCCA), sex, chelation type (for example, p = 0.51 for RCCA with Desferal and p = 0.91 for LCCA with Desferal), age at diagnosis, age at the beginning on transfusion (p = 0.49 for RCCA, p = 0.20 for LCCA), age at the start of chelator (p = 0.74 for RCCA, p = 0.78 for LCCA), and hepatic and cardiac iron overload. Conclusion: Preventive and curative methods should be planned to cease its progression. Furthermore, early initiation of chelator drugs with better efficacy and compliance may reverse the hepatotoxic and adverse myocardial effects of excessive iron.

CTLA4Ig Inhibits Alloantibody Responses to Repeated Blood Transfusions

Allosensitization is a fundamental problem that limits the effectiveness of blood transfusions. Patients who receive multiple transfusions of blood or blood components frequently develop alloantibodies against donor alloantigens. Allosensitized patients are refractory to further transfusion and difficult to transplant successfully. CTLA4Ig fusion protein, which blocks the CD28-B7 costimulatory pathway in T-lymphocyte activation, was tested for its capacity to inhibit allosensitization to blood transfusions. Groups of LEW (RT1') rats were transfused with ACI blood (RT1a) together with L6 (a human immunoglobulin G1 [IgG1] antibody as isotype control) or CTLA4Ig in different doses (0.004, 0.02, 0.1, and 0.5 mg). Rats were retransfused with ACI blood after 28 and 84 days without any additional CTLA4Ig therapy. Weekly sera samples were tested for alloantibody against donor leukocytes using flow cytometry. CTLA4Ig caused a dose-dependent decrease in the IgM alloantibody response against donor major histocompatibility complex (MHC) class I antigens. In addition, 0.02-, 0.1-, and 0.50-mg doses of CTLA4Ig totally inhibited the IgG responses to the first transfusion, and this immunosuppressive effect persisted for the second and third transfusions. To study the capacity of CTLA4Ig to prevent a secondary immune response, three groups of LEW rats were transfused with ACI blood with no accompanying treatment. Animals were retransfused 28 days later with ACI blood together with L6 control antibody or 0.5 or 2.5 mg CTLA4Ig. CTLA4Ig, but not L6, prevented an increase in IgG alloantibody response despite repeated transfusions. The effects of CTLA4Ig treatment on helper T-lymphocyte proliferation was tested by limiting dilution analysis (LDA). Peripheral blood cells taken 30 days after blood transfusion and CTLA4Ig treatment contained significantly decreased donor-specific T-lymphocyte precursors compared with L6-treated rats. These data support the idea that blocking the B7/CD28 signal of T-lymphocyte activation by CTLA4Ig treatment at the time of transfusion may be an important therapeutic tool to inhibit alloantibody responses to blood transfusions.

METHEMOGLOBINEMIA

Methemoglobinemia is a life-threatening disease that must be treated promptly and efficiently. It is diagnosed by performing different diagnostic tests. Methylene blue is being used as a vital treatment for methemoglobinemia, but does not have proven efficacy in patient with G6PD deficiency. Here in the case study, we have reported the case of a 19-year-old male patient with an alleged history of industrial exposure to nitrobenzene (aniline dye exposure in textile factories), who developed methemoglobinemia, for which he was treated with methylene blue. However, there was no improvement in his symptoms. On the other hand, there was a drop in his hemoglobin level with worsening of kidney function due to hemolysis of red blood cells. On further examination, the patient was found to be G6PD deficient. The patient was provided with the only available method of treatment consisting of repeated blood transfusions and ascorbic acid with dialysis to which the patient responded, started recovering and after 26 days of intensive treatment, he was discharged from the hospital.

ASSOCIATION BETWEEN 25-HYDROXYVITAMIN D LEVELS AND GROWTH PARAMETERS IN THALASSEMIA WITH REPEATED BLOOD TRANSFUSION

Background. Blood transfusion is a therapeutic choice for thalassemia with anemia. Hemosiderosis is the side effects of blood transfusions which cause impaired liver function, leads to low vita­min D levels in plasma. The low level of vitamin D cause delay in physical growth. The aim is to determine the relation between 25-hydroxyvitamin D levels and growth parameters in thalassemia with repeated blood transfusion history. Method. In this analytical cross-sectional study, thalassemia patients with repeated blood transfusion and ages 0-18 years old were recruited. This research was held in Semarang, Purwodadi, and Rembang from May to September 2019. Thalassemia patients who met the criteria were measured the 25-hydroxyvitamin D level, physical activity and the growth parameters (weight, height, and body mass index). Results. Forty thalassemia patients aged 6-18 years old were recruited in this study. The percentage of boys are 47.5% and girls are 52.5%. Most of subject had high ferritin serum (87.5%) and low vitamin D level (87.5%). Growth parameters from the patients were 52.5% weight-for-age <5 percentile, 45% height-for-age <5 percentile and 25% BMI-for-age underweight. There isn’t significant result in 25-hydroxyvitamin D with growth parameters, and a significant result between physical activity and height-for-age (p=0.027), but not with weight-for-age and BMI-for-age. Conclusion. The 25-hydroxyvitamin D do not associate with growth parameters significantly in thalassemia with repeated blood transfusion but physical activity has significant association with height-for-age.

Factors Affecting Quality of Life in Pediatric Patients with Transfusion Dependent b-Thalassemia: A Single Centre Experience

Background and Objectives:Thalassemia is a serious global health problem, associated with life-threatening anemia that necessitates repeated blood transfusions. Despite the significant advances in the management of thalassemia, little improvement has achieved in patients' health-related quality of life (QOL). This study aimed to assess the QOL of transfusion-dependent children with b-thalassemia. Methodology:A cross-sectional research design followed at the East Jeddah General Hospital, Jeddah City, Saudi Arabia, from April to June 2020. The inclusion criteria were children aged four years or more, with b-thalassemia major or intermedia registered for at least one year at the Hereditary Blood Diseases Unit and receiving a blood transfusion on a monthly or near-monthly basis. The study included 48 children (26 boys and 22 girls). The researchers designed a data collection tool. It comprised sociodemographic characteristics of patients and their parents and the abbreviated version of the World Health Organization Quality of Life Questionnaire (WHOQOL-BREF). It includes 26 items. Parents asked about the quality of their thalassemic children's life during their regular blood transfusion visits. Their responses scored, and the QOL of each thalassemic child produced. This study focused mainly on three QOL domains, namely "Physical health," "Psychological," and "Social relationships." Domain scores scaled in a positive direction (i.e., higher scores denote better QOL). Data were statistically analyzed using the Statistical Package for Social Sciences (IBM, SPSS, version 25). Descriptive statistics, namely frequency, percentage, mean and standard deviation (SD), were calculated. Testing significance was applied using the Chi-square (c2) test, independent samples t-test, and variance (ANOVA). P-values less than 0.05 were considered as statistically significant. Results:Age of thalassemic children ranged from 4 to 15 years (Mean±SD: 8.7±3.0 years). Age at diagnosis ranged from 1 to 60 months years (Mean±SD: 14.1±13.0 months). Seven fathers (14.6%) and nine mothers (18.8%) were illiterate, 23 fathers (47.9%) and 27 mothers (56.3%) had school education, while 18 fathers (37.5%) and 12 mothers (25%) were university educated. The majority of thalassemic children were living with their parents (93.8%). The family monthly income of 30 children (62.5%) was <8000 SR (i.e., <2000 US$). A family history of blood diseases was positive among 52.1% of participant thalassemic children. Before the start of blood transfusion sessions, the overall QOL of 13 children (27.1%) was poor but significantly improves after blood transfusion (p<0.001). Moreover, the overall QOL was significantly better among children with maintained medications (p=0.028). All QOL domains did not differ significantly according to the ferritin level. However, considerably better social domains of QOL were present among children with regular follow up. None of the QOL domains differed among thalassemic children according to their age, age at diagnosis, gender, or their parents' characteristics. Conclusions:The QOL of b-thalassemic children is significantly affected, which substantially improves after blood transfusion. The overall QOL is considerably better among children with maintained medications. Significantly better QOL among thalassemic children was associated with their follow at specific subspecialty clinics, namely Ear, Nose, and Throat (ENT), endocrinology, and nutrition. Disclosures No relevant conflicts of interest to declare.

Demonstration of Iron in Exfoliated Buccal Mucosal Cells as a test for Iron Overload in Thalassemia Syndrome Patients Undergoing Repeated Blood Transfusion

Demonstration of Iron in Exfoliated Buccal Mucosal Cells as a test for Iron Overload in Thalassemia Syndrome Patients Undergoing Repeated Blood Transfusion

Case Report on Autoimmune Hemolytic Anemia: A Mask of Malignancy!

AbstractA 10-year-old boy with autoimmune hemolytic anemia (AIHA) was treated at a local setup with repeated blood transfusions and steroids considering an idiopathic etiology. After 7 months of unresponsiveness, the child started developing recurrent fever with night sweats and pain in the abdomen which was diagnosed as tuberculosis on account of granulomatous necrotizing lesion on computed tomography (CT)-guided lymph node biopsy and treated for the same. Four months later, when the child presented to our center in anemic heart failure, work-up with positron emission tomography-CT and excisional biopsy of mesenteric lymph node led to the diagnosis of advanced Hodgkin's lymphoma with B symptoms. AIHA in pediatric age group, unlike in adults, is usually secondary. Our report stresses on a thorough evaluation of AIHA as it can mask a malignancy for a long duration and alter its course if treated with steroids, making the patient resistant to further chemotherapy.

PATTERN AND CLINICAL PROFILE OF PATIENTS WITH Β- THALASSEMIA IN REPEATED BLOOD TRANSFUSION

Chronic transfusions inevitably lead to iron overload as humans cannot actively remove excess iron. The cumulative effects of iron overload lead to significant morbidity and mortality, if untreated. The combination of transfusion and chelation therapy has dramatically extended the life expectancy of thalassemia patients, but with complications like hypocalcaemia. Hence, present study was undertaken to determine pattern and clinical profile of patients with β- thalassemia who are receiving repeated blood transfusion Methods: Hospital based study conducted at S. Nijalingappa Medical College and Hanagal Shri Kumareshwar hospital, Bagalkot. The study period was one and half year from 2015 to 2016. 53 beta thalassemia major cases fulfilling inclusion criteria were investigated after an informed consent, for serum calcium, serum phosphorous, serum ALP and paratharmone levels. Result: Among 53 transfusion dependent children studied, the mean age is 5.249 years. The study consisted of 32 (60.4%) males and 21 (39.6%) females. Maximum number of cases i.e. 29 (54.7%) were diagnosed at the age of 4-6 months. 50 (94.3%) were on iron chelation therapy. The mean serum calcium is 8.28 + 0.89 mg/dl. The mean serum phosphate is 6.40 + 0.80mg/dl, mean PTH is 14.96 + 15.49ng/L. The mean value of serum phosphate level is 14.96 + 15.49 ng/L. The mean ALP is 166.789 U/L. Conclusion: To get better results, regular testing is needed to detect the complications of the early stages with proper treatment of the factors and complications. Therefore, should be monitored to avoid complication related to hypocalcemia.

Gene prevalence in abnormal haemoglobin divergent and blood groups in Uttarakhand

Abnormal haemoglobinopathis are generally observed deviant disarray happen due to genetic inequality within the alpha and beta chains amino acids sequences alters. a total of 933 cases were included in the study for detection of Thalassemic cases. Out of these positive thalassemic cases were further analysed for gene frequency. Starting with complete Blood Cell counts which has led to suspected cases for further analysis by haemoglobin electrophoresis by HPLC (high performance liquid chromatography) for confirmation of Thalassemic cases. Finally gene frequency detection by ARMS (Amplification Refractory Mutation System) by using PCR (Polymerase Chain Reaction). Isolation of DNA from whole blood by commercially available kit (QIA amp DNA blood midi kit 100 samples).A sum total of 933 subjects, aged between 01-30 yrs were studied and it depicts 4.1% prevalence. β-thalassemia trait was screened as highest and S-D disease as lowest. The frequencies with respect to ABO is shown as B>0>AB>A. The amplicons which were analysed after gel electrophoresis were screened for ARMS, PCR, which IVS1-5 (G-C) Maccounts for almost 50.0% and lowest is Fr 8/9 (+G) M is 12.1%. As such patients requires repeated blood transfusion so availability of maximum type of affected Blood group is the time of need for availability to with blood banks. Further genetic studies will definitely help in effective for further pharmaceutical companies.

Role of Cardiovascular Magnetic Resonance Imaging in Assessment of Myocardial Iron Overload in Thalassemic Patients

Background: Thalassemia major anemia patients require repeated blood transfusions, which improves their survival and quality of life, however it leads to iron overload and cellular damage. Serum ferritin and liver biopsy were used classically to measure iron overload and to monitor patient response to chelation therapy. Magnetic resonance imaging (MRI T2*) has proven to be a non-invasive, effective technique in detecting and quantifying iron in the heart and liver and in adjustment of iron chelation therapy. Objective: To assess myocardial siderosis among our patients using MRI T2* technique and correlate it with hepatic iron load and left ventricular ejection fraction (LVEF). Patients and methods: Our study included 42 cases of monthly transfused patients. Hepatic and myocardial iron overload were measured by multi-breath-hold MRI T2* technique and a cine view sequence was used to assess left ventricular function (EF). Results: Myocardial and hepatic iron overload were inter-correlated to each other and correlated to left ventricular function (LVEF). There was insignificant correlation between cardiac and hepatic T2* value results (k = 0.014, P > 0.05). However, there was a progressive and significant decline in left ventricular ejection fraction (r = 0·61, P < 0·001) in patients with low cardiac T2* values (T2* < 20 ms). Conclusion: MRI T2* technique is a precise, reproducible, and non-invasive technique for measuring tissue iron concentration and sparing the patients from an invasive biopsy technique. It also benefits in early detection of cardiac dysfunction and provides a follow up tool helping in chelation therapy adjustment.