Thalassemia Patients Research Articles

Quality of life in transfusion dependent thalassemia patients at national institute of child health.

Objective: To determine the quality of life of children suffering from transfusion dependent thalassemia. Study Design: Case-control study. Setting: Department of Pediatrics, National Institute of Child Health, Karachi, Pakistan. Period: March 2024 to August 2024. Methods: Children of either gender, aged between 6 months to 14 years, and having transfusion dependent thalassemia were included as cases (n=95). For controls (n=95), healthy volunteers without chronic disease, matched in terms of gender and age were included. At the time of enrollment, demographical data like age, gender, height, and weight were noted. Relevant laboratory investigations were performed and evaluated. Children of both groups along with their parents were interviewed about quality of life administering WHOQOL-BREF questionnaire. Results: In a total of 190 children (95 children in each group), 104 (54.7%) were male and 86 (45.3%) female. Physical health scores were 35.62±6.68 in children with transfusion dependent thalassemia vs. 74.92±7.92 in controls (p<0.001). Psychological health scores were 38.16±8.12 vs. 76.68±6.66 (p<0.001) among transfusion dependent thalassemia children versus controls, respectively. Social relationships were 41.19±6.14 vs. 77.50±7.01 (p<0.001) among transfusion dependent thalassemia children versus controls, respectively. Environmental scores were 43.51±6.93 vs. 71.59±6.06 (p<0.001), among transfusion dependent thalassemia children versus controls, respectively. Conclusion: Our study highlights the significant negative impact of transfusion-dependent thalassemia on the quality of life of affected children across all domains of the WHOQOL-BREF questionnaire.

HBE BETA-THALASSEMIA IS ASSOCIATED WITH IGA NEPHROPATHY

Thalassemia are a group of autosomal recessive inherited disorders of haemoglobin synthesis where in mutations of the -globin gene lead to various degrees of defective -chain production, an imbalance in -globin chain synthesis, ineffective erythropoiesis and anaemia. Improved survival in thalassaemic patients has led to the emergence of previously unrecognized complications, such as renal disease. Renal disease is considered the 4th cause of morbidity among patients with transfusion dependent thalassemia. IgA nephropathy (IgAN) is an immune complex-mediated glomerulonephritis, defined morphogically by the constant presence of dominant or co-dominant mesangial deposists of IgA and accompanied by avariety of histopathological lesions. It is the most common pattern of primary glomerulonephritis seen in the world and represents a significant cause of renal insufficiency in young adults. Here we report a case of 24 year old male known case of E beta thalassemia since his 8 years of age with IgA nephropathy.

First Ever Pediatric Allogeneic Hematopoietic Stem Cell Transplantation In A Transfusion Dependent Thalassemia Patient In Bangladesh- A Case Report With 17 Months Post-Transplant Follow Up

Background: Hematopoietic stem cell transplantation (HSCT) is the mainstay of treatment for many disease conditions. The first allogeneic HSCT was done by E. Donnall Thomas which was reported in the New England Journal of Medicine in September 1957. In that study six patients of Acute Leukemia were treated with radiation and chemotherapy followed by intravenous infusion of marrow from a normal donor where only two patients were engrafted but all died within 100 days of transplantation. In 1979 Thomas applied allogeneic HSCT earlier in the course of acute leukemia and reported a 50% cure rate in AML patients transplanted after first remission. In Bangladesh there was no scope of HSCT for thalassemia patients. The first ever pediatric allogeneic HSCT in a transfusion dependent thalassemia patient was performed in BMT center of CMH Dhaka on 30 November 2021. Here the case is reported with 17 months post-transplant follow up. Case Report: Arfin a 3 years 11 months old boy first reported in November 2018 with the history of repeated blood transfusion since 6 months of age and was diagnosed as a case of Hb-E Beta thalassemia. On initial presentation he had hepatomegaly, splenomegaly, stunting, high serum ferritin level, and high liver iron concentration and was treated with regular irradiated and filtered PRBC with multiple iron chelating agents. On 30 November 2021 allogeneic HSCT of that patient was successfully completed. Donor was his elder brother who was Hb-E trait and had 10/10 HLA full matches. In April 2023 after 17 months during post-transplant follow up his Hb was 10.3 gm/dl, serum ferritin level was normal, had normal growth and required no further blood transfusion after transplantation. Conclusion: In transfusion dependent thalassemia patients allogeneic HSCT is curative. This is the first and successful case of allogeneic HSCT in thalassemia patients in Bangladesh. J Bangladesh Coll Phys Surg 2025; 43: 77-80

P-2178. Can serum ferritin be used as a marker of severity in dengue fever?: a prospective observational study from North India

Abstract Background Dengue has a variable clinical course and there is no standardised marker for predicting dengue severity. Studies have shown higher ferritin levels in dengue compared to other febrile illnesses. Prospective studies to show correlation of ferritin with dengue severity are lacking. Demographic profile and workflow From 134 patients 99 were selected for the study , 35 were excluded as per the exclusion criteria (figure 1 flowchart). Majority of the patients were young (figure 3) with male predominance (figure 2), the male female percentages and age did not vary significantly across different grades of severity (table1 and figure 4). Methods Single centre prospective observational study conducted over 2 years. Patients of chronic inflammatory diseases, thalassemia, haematological malignancy or severe anemia (Hb < 7gm/dl) were excluded. Two ferritin samples 3 days apart measured by automated BECKMAN COULTER DxI.800 immunoassay analyzer. Clinical features and median ferritin value across different dengue severties In Figure 5 the pie chart shows that majority of the patients were dengue without warning signs , approximately 1/5th were severe dengue. Figure 6 shows that initial clinical features were more or less similar in the three groups of severities , however bleeding, pain abdomen , vomiting were more common in severe dengue group. Table 2 showing median ferritin values of day 0 and day 3 ferritin in different severity groups and whether their differences are statistically significant between each groups or not. The Box and whisker plots in figure 7, 8 and 9 shows the same with corresponding p values and Median ferritin level annotated. Results Total study population was 99 patients with median age of 28 years (24.5-34.5) and male predominance (68%). 2009 WHO classification wise 43% were dengue without warning signs 36% dengue with warning signs and 21% were severe dengue patients. Both day 0 and day 3 ferritin median value were higher across all three groups and the difference were statistically significant (p=0.00002 and p=0.045 respectively). Day 0 ferritin median value difference was statistically significant between severe dengue and dengue without warning sign (0.00001) and warning sign group (p=0.0003). In case of early ferritin sample (within day 7 of illness) it was significantly different between all groups. Serum ferritin also showed strong positive correlation with AST, ALT and negative correlation with Albumin levels. ROC curve analysis showed that a ferritin cut off of 9185 ng/ml with AUC 0.811, standard error 0.06 and 95% CI of 0.69-0.92 could differentiate severe from non severe dengue with 52.4% sensitivity and 97.4% specificity. For early ferritin sample cut off becomes 2132 ng/ml with a 70% sensitivity and 82.4% specificity with AUC 0.821, standard error 0.085 and 95% CI of 0.65-0.98. Multivariate logistic regression shows baseline platelet counts < 50000 cells/uL [OR 4.7, p=0.02, 95% CI 1.19-18.54] and Albumin < 3.5 gm/dL [OR 6.33 p=0.007 95% CI 1.67-24.06] to be independent predictors of severe dengue. Day 0 ferritin level > 9185ng/mL gave an Odd’s ratio of 10.47 with p=0.052 and 95% CI [0.98-112]. Correlation of ferritin with various biochemical parameters and Ferritin cutoff value to differentiate Severe from Non severe dengue by ROC curve Table 3 and Figure 10 Scatter plot showing strong positive correlation between serum ferritin and SGOT/ SGPT levels, and negative correlation with serum albumin level .Figure 11 ROC curve analysis showing the ferritin cutoff being 9185ng/ml to differentiate between severe and non severe dengue. If sample taken within day 7 of illness the cut off becomes 2132 ng/ml (Figure 12) Conclusion Ferritin can be a useful biomarker for differentiating different grades of dengue severity especially if sample taken in the 1st week of illness. Serum ferritin cut off values can be used to predict severe dengue. Multivariate Logistic regression to find independant predictor of severe Dengue Table 4 showing Multivariate logistic regression result, which reveals baseline platelet count <50000 and Albumin level <3.5gm/dL to be independent predictor of severe dengue.Day 0 Ferritin cutoff of 9185 ng/dL as per the ROC curve analysis shows that the Odds of prediction of severe dengue is 10.47 (p=0.052 and 95% CI 0.98-112). Disclosures All Authors: No reported disclosures

Analysis of Some Regulatory Genes in Relation to Ferritin and Iron Metabolism among Thalassemia Patients in Mosul City

Analysis of Some Regulatory Genes in Relation to Ferritin and Iron Metabolism among Thalassemia Patients in Mosul City

Assessment of Biochemical Markers of Bone Turnover and their Association in Iraqi Thalassemia Patients

Assessment of Biochemical Markers of Bone Turnover and their Association in Iraqi Thalassemia Patients

Transfusion efficacy of leucoreduced packed red blood cells prepared by two different methods: A randomized controlled trial in transfusion-dependent thalassaemia patients (FUEL trial).

Great variations may be observed in the haemoglobin (Hb) content of packed red blood cell (PRBC) units prepared by different methods. This study aimed to assess the Hb increment in thalassaemia major patients transfused with leucoreduced PRBCs (LPRBCs) prepared by two different methods: (i) standard leucoreduced PRBCs (SLPRBCs) and (ii) leucoreduced PRBCs prepared by a new method where leucoreduction of whole blood is done first (NLPRBCs). This prospective, randomized, controlled trial included 80 adult thalassaemia major patients who were randomized into two groups of 40 each. Group I patients received SLPRBC and those of Group II received NLPRBC transfusions for 3 months. SLPRBCs had a mean (±SD) volume of 275.50 ± 17.07 mL, while it was 316.46 ± 1.42 mL for NLPRBCs (p < 0.001). The mean Hb content of SLPRBCs was 50.60 ± 5.12 g, while that of NLPRBCs was 56.98 ± 5.92 g (p < 0.001). The mean Hb increment in Group I patients was 2.11 ± 0.89 g/dL, while that of Group II patients was 2.48 ± 0.88 g/dL (p < 0.001). The mean transfusion interval for Group I patients was 20.30 ± 3.75 days, while it was 21.34 ± 5.13 days for Group II patients (p < 0.045). A significant positive correlation was observed between the Hb dose transfused and the Hb increment with both SLPRBC (ρ = 0.4, p < 0.001) and NLPRBC (ρ = 0.19, p = 0.011) transfusions. NLPRBCs had significantly higher Hb content than the SLPRBCs, leading to a better Hb increment post transfusion, which may potentially prolong the transfusion interval in thalassaemia major patients.

Mentzer Index As Ascreening Toot For Iron Deficiency Anemia In 6 To 12 Years Old Children

Objectives: to determine the diagnostic accuracy of mentzer index as a screening tool for iron deficiency anemia in 6 to 12 years old children taking serum ferritin as gold standard. Study Design: A Cross Sectional Study. Place And Duration Of Study: Department of Pediatrics PAF Hospital Islamabad from 22-Aug-2024 to 22-Dec 2024 Methodology: A cross sectional descriptive study was done on 150 children, 6-12 years of age, who were clinically suspected to have anemia. Blood examination including complete blood count was done for each patient and Mentzer index was determined. The children with index &gt; 13 were tested for IDA based on serum ferritin level while those with &lt; 13 were also tested for thalassemia. Data analysis comprised of getting average, standard deviation and also the probability value (p-value). Results: Among 150 children, ascertainment of IDA could be made in 95 children based on Mentzer Index &gt;13. The mean Mentzer Index were 14. 2 ± 1. 5 among their patients while among the thalassemia patients the mean index were 11. 6 ± 1. 2. The difference was also found to be significant at p &lt; 0. 05. The accuracy of Mentzer Index in identifying IDA was 87% with sensitivity of 88% specificity of 85%. Conclusions: Mentzer index is a cheap and effective method of screening for iron deficiency anemia in children. It accurately distinguishes IDA from thalassemia so as to ensure early diagnosis and management in LMICs. Keywords: Iron deficiency, Anemia, Mentzer Index, children

Exploring the functional and immune landscape of E-β thalassemia patients through RNA sequencing of peripheral blood mononuclear cells.

Thalassemia is a hematological disorder caused by mutations in the hemoglobin gene, often necessitating regular blood transfusions. These frequent transfusions exert continuous pressure on patients' immune systems. Despite extensive research on the hematological aspects of thalassemia, few studies have explored the immune status of these patients. In this study, we investigated the immune profiles of thalassemia patients using peripheral blood mononuclear cells (PBMCs). We examined the transcriptomes of PBMCs from five severe thalassemia patients, five non-severe patients, and five healthy volunteers. After isolating PBMCs, we extracted total RNA and performed RNA sequencing using the NOVASEQ 6000 platform. We analyzed the raw counts to observe differential gene expression between thalassemia patients and healthy controls, as well as between severe and non-severe patients. Additionally, we conducted gene set enrichment analysis (GSEA) to explore underlying immune conditions. The gene expression profile, along with GSEA, revealed a marked decrease in MHC-II-mediated antigen presentation. Notably, we identified, for the first time, the activation of reactive oxygen species (ROS) through NK cell-mediated eosinophil chemotaxis, suggesting a link to disease severity. Severe thalassemia patients also exhibited higher expression of pro-inflammatory cytokines. Furthermore, transcriptome analysis showed increased expression of the ABO gene in severe thalassemia patients, which may contribute to heightened immune reactions and an increased need for blood transfusions. Deconvolution of the RNA-seq data revealed lower abundances of CD4 T cells and monocytes in thalassemia patients. Thus, immune-modulating drugs could be explored as alternative therapeutic options for the management of thalassemia.

Long-term complications, survival and mortality in splenectomised adult transfusion-dependent thalassemia patients.

Splenectomy is frequently performed in transfusion-dependent thalassemia (TDT) patients to lower blood transfusion needs but is associated with significant long-term complications, including sepsis, thrombosis, and pulmonary hypertension. This study examines the long-term complications, survival rates, and causes of mortality among adult patients with TDT who have undergone splenectomy in a low and middle-income country (LMIC). A retrospective analysis was conducted on 103 adult TDT patients (≥18 years) who underwent splenectomy between July 2013 and March 2024. Data collected included demographic and clinical characteristics, haematological parameters, transfusion requirements before splenectomy and at the last follow-up, survival rates, complications, and mortality causes. The median age at splenectomy was 12 years (range 5-34). The majority (98 %) underwent open splenectomy. The yearly transfusion volume decreased from 276.7 ml/kg/year pre-splenectomy (range 207-433) to 146.2 (range 0-252.9) post-splenectomy at the last follow-up, p < 0.0001. Three patients were completely transfusion-free at the last follow-up. Complications included pulmonary hypertension in 10 (9.7 %), thrombosis in 5 (4.8 %), and overwhelming post-splenectomy infection (OPSI) in 4 (3.9 %). The iron-overload-related complications included cardiomyopathy in 17 (16.5 %), endocrinopathy in 56 (54.3 %), chronic liver disease in 15 (14.5 %) and hepatocellular carcinoma in 2 (0.9 %). The 15-year post-splenectomy overall survival (OS) was 84.7 % (95 % CI- 77.3 % - 92.8 %), with 17 deaths (16.5 %) recorded. Iron-overload-related cardiomyopathy was the leading cause of death in 8 (53.3 %). Splenectomy significantly reduces transfusion requirements in TDT patients but is associated with risks such as thrombosis, pulmonary hypertension, and OPSI. Long-term mortality is primarily driven by iron-overload-related cardiomyopathy.

Real Life Blood Management Practices in Thalassemia and Myelodysplastic Syndrome Patients.

The effect of pretransfusion hemoglobin on transfusion burden, thrombosis, and mortality in thalassemia and myelodysplastic syndrome is unclear. We aimed to study the pretransfusion hemoglobin and erythrocyte transfusion burden and investigate the effects of these variables on each other in real-life in thalassemia and myelodysplastic syndrome. Adult patients with thalassemia and myelodysplastic syndrome who received at least one erythrocyte concentrate unit outpatient at Sanliurfa Mehmet Akif Inan Training and Research Hospital during 1 year were included in the study. The data were retrospectively obtained. Ethical approval was obtained for the study. Ninety-two patients were included in the study. In thalassemia major, pretransfusion hemoglobin ≥ 9 g/dL was associated with a lower median annual number of transfused erythrocyte concentrate units (15 vs. 27) and median annual number of transfusion sessions (11 vs. 14) p=0.002, p=0.009, respectively). In myelodysplastic syndrome, a pretransfusion hemoglobin level ≥ 8 g/dL was associated with a lower median annual number of transfused erythrocyte concentrate units (6 vs. 24) (p=0.016). In thalassemia major with an intact spleen, pretransfusion hemoglobin ≥ 8 g/dL was associated with an increased median annual number of transfused erythrocyte concentrate units (32 vs. 27) and median annual number of transfusion sessions (18 vs. 14) (p=0.046, p=0.038, respectively). In conclusion, higher pretransfusion hemoglobin levels were related to a lower transfusion burden in thalassemia major and myelodysplastic syndrome.

Inflammatory Monocyte Subsets Correlation with Iron Levels in Low Vitamin D Pediatric Transfusion-Dependent Thalassemia.

Patients with transfusion-dependent thalassemia experience iron dysregulation, which affects the immune response. Surface proteins such as FcγRIII (CD16), lipopolysaccharide receptor (CD14), and human leukocyte antigen (HLA-DR) on monocytes are crucial for innate and adaptive responses. Blood monocytes, identified by their CD14 and CD16 expression, show functional diversity during injury or inflammation. Considering the mechanisms of vitamin D activation and its potential interaction with monocytes, further investigation of its immunomodulatory role in transfusion-dependent thalassemia is essential. This study evaluated monocyte subsets, population, and surface receptor expression (CD14, CD16, and HLA-DR), and their association with iron status and vitamin D levels in patients with transfusion-dependent thalassemia. Fifty lysed erythrocyte-heparinized whole blood samples from transfusion-dependent thalassemia patients were analyzed by flow cytometry and classified into three monocyte subsets: CD14++CD16- (classical), CD14++CD16+ (intermediate), and CD14+CD16++ (non-classical). Cell percentage referred to the monocyte subset population. Median fluorescence intensity (MFI) indicated surface protein expression. The 25(OH)vitamin D level was used to measure vitamin D levels. Iron status was assessed using ferritin and serum iron levels. A correlational study was performed. We did not find a correlation between low vitamin D levels (22.9 ng/mL ± 3.9) and monocyte characteristics, iron status, or hematology profile. However, we observed a negative correlation between the percentage of intermediate and non-classical monocytes and hemoglobin and ferritin levels (P = 0.02, r = -0.3; P = 0.04, r = -0.3). Additionally, we found a positive correlation between the median fluorescence intensity (MFI) of CD14 in non-classical monocytes and serum iron (P = 0.04, r = 0.3). Our findings suggest that iron overload and anemia may influence the function of inflammatory monocyte subsets. Considering the immunomodulatory role of vitamin D through monocyte modulation during pathogen insult, further research utilizing a whole-blood stimulation assay is imperative.

A Multicenter ICET-A Survey on Adherence to Annual Oral Glucose Tolerance Test (OGTT) Screening in Transfusion-Dependent Thalassemia (TDT) Patients - The Expert Clinicians' Opinion on Factors Influencing the Adherence and on Alternative Strategies for Adherence Optimization.

Current guidelines for screening glucose dysregulation (GD) in patients with transfusion-dependent thalassemia (TDT) recommend an annual 2-hour oral glucose tolerance test (OGTT) starting at the age of 10 years. Assessment of adherence to OGTT screening in patients with TDT. A questionnaire was distributed to 18 Thalassemia Centers in 10 different countries, targeting factors influencing adherence to annual OGTT screening in specialized multidisciplinary pediatric and adult TDT units and identifying strategies to improve adherence to OGTT in TDT patients. The mean reported percentage of all types of GD across 16 of the 18 centers at the last OGTT assessment was 32.0%, while the mean percentage for thalassemia-related diabetes mellitus (Th-RDM) was 12.2 ± 9.7% (range: 0%-41%; median: 13.2 %) in all participating centers. Notably, a high percentage of suboptimal or poor adherence to annual OGTT screening (mean 41.3%; range 10-90%) was reported by 17/18 centers. Poor adherence to annual OGTT among eligible patients was multifactorial and related to both patients and the healthcare system barriers. The most commonly suggested actions by hematologists and endocrinologists for improving the adherence to OGTT were flexibility in timing, easy approach to test location, improved collaboration among team members, and persistent reminding. Young adult patients with TDT are at high risk for developing GD and Th-RDM. Thus, annual screening with a 2-hour OGTT is recommended. Nevertheless, several patient barriers are associated with low adherence to annual OGTT. It is desirable to develop intensive initiatives to improve the screening rate for GD, while studies are warranted to update the current guidelines in TDT patients with low-risk factors for GD and for countries with low-resource settings.

DENTAL HEALTH STATUS OF BETA THALASSEMIA PATIENTS

Background: Beta thalassemia is a genetic hematological disorder characterized by chronic anemia, frequent blood transfusions, and iron overload. The systemic complications of this condition significantly impact oral health, leading to craniofacial abnormalities, malocclusion, and an increased risk of dental diseases. Objective: To evaluate and compare the dental health status of 50 beta thalassemia patients and 50 healthy controls, focusing on overjet, overbite, spacing, periodontitis, mucosal pallor, and DMFT (Decayed, Missing, and Filled Teeth) scores. Methods: A cross-sectional study was conducted involving 100 participants, comprising 50 beta thalassemia patients and 50 age- and sex-matched healthy controls. Clinical examinations assessed dental parameters, including overjet, overbite, spacing, periodontal health (CPI score), mucosal pallor, and DMFT scores. Data were analyzed using descriptive statistics (mean, standard deviation) and inferential statistics (chi-square test and independent t-tests) with a significance threshold of p &lt; 0.05. Results:Overjet, Overbite and spacing in beta thalassemia patients exhibited significantly higher as to controls.Periodontitis: Higher CPI scores in beta thalassemia patients were seen compared to controls indicate increased periodontal disease prevalence. Mucosal Pallor: Mucosal pallor scores were significantly higherinpatientsreflecting anemia-related changes.DMFT Scores: Beta thalassemia patients demonstrated higher DMFT scores. Conclusion: Beta thalassemia significantly affects dental health, manifesting as increased malocclusion, periodontal disease, mucosal pallor, and caries prevalence. These findings underscore the need for integrated dental care tailored to this patient population, including early orthodontic interventions, regular periodontal treatments, and preventive strategies to mitigate oral health challenges.

Endocrine impact of transfusion therapy: parathyroid status in pediatric thalassemia major

Background: Thalassemia major, a severe form of inherited anemia, requires lifelong blood transfusions to manage the condition and sustain hemoglobin levels. However, these repeated transfusions often lead to iron overload, which can deposit in various organs, including endocrine glands and disrupt normal hormone production. One such affected gland is the parathyroid, responsible for regulating calcium and phosphate balance through parathyroid hormone (PTH) secretion. This study aimed to assess the parathyroid status in children with thalassemia major. Methods: This case-control analytical study design was considered to assess the parathyroid status in children with thalassemia major. The study was carried out at the Department of Pediatric Hematology and Oncology, Dhaka Medical College Hospital, Dhaka, from July 2012 to June 2013. A total of 40 children with thalassemia major (termed as case) and another 32 normal children (termed as control) were included in the study. Data were analyzed using SPSS (Statistical Package for Social Sciences) version 16. Results: The study found that children with thalassemia major had significantly lower parathyroid hormone (PTH) levels and higher phosphate levels compared to healthy controls, though calcium levels were similar between groups. Thalassemia patients, primarily receiving blood from professional donors, underwent transfusions for an average of six years, with limited use of chelation therapy (15%). Hypoparathyroidism was significantly more common in thalassemia patients (10%) compared to controls, with 25% also showing hyperphosphatemia. No significant differences were observed in age or sex distribution between the groups. Conclusions: It can be concluded children with thalassemia possess significantly low serum PTH and high phosphate levels. The serum calcium level does not alter significantly compared to healthy children of similar age and sex. The findings call attention to the critical need for early intervention, regular endocrine screening and diligent chelation therapy in managing thalassemia major.

A novel conditioning regimen with pre-transplantation immunosuppression reduces the complication rates in hematopoietic stem cell transplantation in transfusion-dependent β-thalassemia

BackgroundAllo-HSCT is a curative therapy for patients with transfusion-dependent thalassemia (TDT). The high incidence of transplant-related complications is becoming an obstacle to safe and effective unrelated donor (URD) transplantation.MethodsIn this retrospective study, we reported the survival outcomes and complications of transplantation in thalassemia patients using a novel regimen consisting of pre-transplantation immunosuppression (PTIS) and modified myeloablative conditioning based on intravenous busulfan, cyclophosphamide, fludarabine, and rabbit anti-human thymocyte immunoglobulin.ResultsA total of 88 thalassemia patients received the novel conditioning regimen (NCR group), while 118 patients received the conventional conditioning regimen (CCR group). The median age at HSCT in the NCR group was older (7 years vs. 4 years, p < 0.05). No patient in the NCR group experienced primary graft failure, while the 3-year probabilities of OS and TFS were 96.6% and 93.2%, respectively. Even when the intensity of conditioning was reduced, OS (94.8% vs. 94.3%, p = 0.848) and TFS (89.8% vs. 92.5%, p = 0.663) in URD transplants in the NCR group were comparable to those in the CCR group, while the risk of autoimmune hemolytic anemia (AIHA) (0% vs. 15.1%) was lower. In addition, the NCR group had lower rates of mixed chimerism (7.1%).ConclusionsURD transplantation can achieve a comparable prognosis to matched sibling donor (MSD) transplantation with a lower incidence of AIHA due to PTIS and modified myeloablative conditioning regimen.

Abnormalities of teeth and jaws in thalassemia pediatric patients.

To assess the prevalence of abnormalities of teeth and jaws in thalassemia patients and their association with the severity and type of thalassemia. This cross-sectional study was conducted among thalassemia patients, attending the Pediatric Outpatient Clinic at a university hospital in Thailand. Data were collected from medical records, clinical and orthopantomographic examinations. Descriptive statistics, Fisher's exact test, and binary logistic regression were employed for data analyses. The study included 163 patients, aged 1.9-28.6 years, with 148 accepting panoramic radiographic examination. Dental caries, convex profile, malocclusion, abnormal teeth, small maxillary sinus, absent inferior alveolar canal, and eroded mandibular cortex presented in 93.9%, 76.7%, 86.3%, 22.9%, 52.7%, 49.3%, and 29.7% of the participants, respectively. Severe thalassemia patients had a higher prevalence of malocclusion (p<.01) and small maxillary sinus (p=.02) than non-severe group. Compared to patients with β-thalassemia, those with coinheritance of α- and β-thalassemia demonstrated less malocclusion (p=.03) and small maxillary sinus (p<.001). No significant associations were found between the severity and type of thalassemia with other abnormalities. Thalassemia pediatric patients manifested several dental and jaw abnormalities, with malocclusion and small maxillary sinuses being associated with severe thalassemia and β-thalassemia.

Epidemiological features and clinical profile of patients with thalassemia

Objectives: Thalassemia is the most common genetic disorder globally. In Afghanistan, the epidemiology and clinical characteristics of the disease are not studied officially. This study aims to explore the epidemiological pattern and clinical profile of thalassemia patients registered in the National Blood Bank (NBB), Kabul, Afghanistan. Material and Methods: A retrospective medical record review was conducted to analyze registries and conduct phone calls for follow-up patients registered in the NBB during 2019–2020 in Kabul. The confirmed case was any patient tested for fetal hemoglobin and blood film. Data were collected using a form matching the patient’s registers. Epi Info v.7 was used for data management and descriptive measures analysis. Results: Totally 411 patients with thalassemia were enrolled in the analysis. Out of all patients, 225 (54.61%) were male, with an overall mean age of 6.89 (±4.06) years. The highest proportion of patients was clustered around age groups of 2–8 years (56%). Pashtuns’ ethnicity had the highest percentage of patients (63%) and Hazara the lowest (1%). Almost the majority of cases under management were thalassemia major (98.8%), and just one case was recorded as intermedia and four cases as minor. According to laboratory tests, 88 (21.4%) were positive for hepatitis C, 2 (0.5%) positive for hepatitis B, and 1 (0.2%) for human immunodeficiency virus. As a whole, 251 (61.67%) had a type of consanguinity marriage. In patients, the blood groups of A+ (27%), B+ (27%), and O+ (25%) were almost equally distributed, while AB+ (10%), O negative (4%), A negative (2%), and AB negative (0.2%) had low proportions. The residency of the majority (87.13%) was Kabul. Totally, 18 (4.36%) had surgical operations, and 11.8% reported children died due to thalassemia. Conclusion: Thalassemias are common in Afghanistan, and facility for management is lacking. Consanguineous marriage was more common and probably a contributing factor to disease. The establishment of more centers and a full review of factors are recommended.

Simple Coaching Clinic to Improve Nurse's Knowledge of Genetic Counseling among Thalassemia Patients of Genetic Counseling among Thalassemia Patients

Introduction: The coaching clinic is one of the strategies designed to increase nurses' knowledge in conducting genetic counseling for patients and families of thalassemia patients. Nurses will not only be given information, but they will also be taught how to communicate and how to use genetic counseling to make sure the coaching clinic's goals are met. Objective: This study aims to describes the effect of a simple coaching clinic on nurses' knowledge of genetic counseling implementation in thalassemia care. Methods: This research used a quantitative approach and was conducted on August 20th–21st , 2022. The design of this study was quasi-experimental without a control group. This study obtained a total sample of 29 nurses using a proportional sampling technique and inclusion criteria. The inclusion criteria in this study were nurses with a diploma degree, an undergraduate education background, and registered nurses. The data collection instrument was a 30-questions genetic counseling questionnaire. IBM SPSS version 25.0 was used to analyze the data using the Wilcoxon test. Results: Simple coaching clinic proved to have a significant effect in improving the knowledge level of nurses in general with p-value = 0.004. Knowledge level improvement can be seen from Mean (+SD) 53.67 (+13.64) to 69.67 (+8.26). Likewise with nurses' knowledge about thalassemia, genetic counseling and bio-informatics, the majority of respondents experienced positive changes. In contrast to the genetic topic, the majority of respondents did not experience a change in their level of knowledge so that a p-value &gt;0.05 was obtained. Conclusions: Changes in level of knowledge indicated that the coaching clinic's effects on level of knowledge are significant and have an impact on health services across a variety of health institutions, including clinics and hospitals. As a result, it is critical to have a health strategy that promotes the accessibility of genetic counseling services for patients with thalassemia and other genetic illnesses.

Contextualizing prophylactic red blood cell antigen matching in the lifelong care of sickle cell disease and thalassaemia patients.

Alloimmunization to minor red blood cell antigens has been linked to patient morbidity and mortality, especially among people living with sickle cell disease and transfusion-dependent thalassaemia. Prophylactic antigen matching is commonly used to prevent alloimmunization, but the evidence supporting this common practice is very limited. The report by Wolf etal. summarizes the latest literature on this topic and importantly finds that there is insufficient evidence to recommend prophylactic extended antigen matching (beyond ABO, RhD, RhCcEe and K). In an era of chronic blood shortages, this approach may help to assure patient access to elective surgery and cellular therapies, while preserving the supply of extensively antigen-matched red cells for patients with specific needs. Commentary on: Wolf etal. Red cell specifications for blood group matching in patients with haemoglobinopathies: An updated systematic review and clinical practice guideline from the International Collaboration for Transfusion Medicine Guidelines. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19837.