Thalassemia Patients Research Articles

Hubungan Transfusi Darah Berulang dan Kepatuhan Konsumsi Obat Kelasi Besi dengan Kadar Ferritin pada Pasien Thalasemia di Kota Depok

Repeated transfusions cause iron overload in β thalassemia patients. Therefore, iron chelation therapy is needed to reduce the amount of ferritin and ions in the blood. Compliance with iron chelation therapy is one of the factors that affect the patient's serum ferritin level. This study aims to determine the relationship between repeated blood transfusions and consumption of iron chelating drugs with serum ferritin levels of β thalassemia patients at Depok City Hospital in 2021. This research is a retrospective cohort study. The initial population was 112 people, sampling was carried out using the non-probability method and obtained 69 people who met the inclusion and exclusion criteria. This research was conducted from January 2021 to December 2021 in three medical record installations at Depok City Hospital. Respondents who rarely did repeated blood transfusions were 42 (60.9%), respondents who adhered to taking iron chelation drugs were 45 (65.2%), and respondents who had high ferritin levels were 43 (62.3%). There is a relationship between repeated blood transfusions and ferritin levels in thalassemia patients in Depok City in 2021. There is a relationship between adherence to taking iron chelating drugs and ferritin levels in thalassemia patients in Depok City in 2021. It is recommended that clinicians continue to provide a deeper understanding to parents or the patient's family to continue to carry out regular chelation therapy and check serum ferritin levels regularly.

Plasma amino acid profiles in thalassaemia major with iron overload

Introduction: Iron overload in thalassaemia major patients mainly occurs due to periodic transfusions. When iron exceeds transferrin capacity, non-transferrin bound iron accumulates and causes tissue damage, including in the gastrointestinal tract, resulting in impaired enterocyte function and amino acid absorption. The aim of this study was to evaluate amino acid profiles in patients with thalassaemia major after repeated transfusions and chelation. Methods: Whole blood amino acids were analysed from dried blood spots using liquid chromatography tandem mass spectrometry. This study consisted of two parts: a cross-sectional and a cohort study in thalassaemia-β-major patients. In the cross-sectional study, amino acid profiles were analysed in 219 thalassaemia patients who received routine transfusion and chelation therapy, and 60 healthy control subjects. The cohort study included 21 subjects, from whom blood samples were taken at pre-transfusion, 1-day posttransfusion, one and three months post-chelation to evaluate changes in amino acid levels. Results: There were significant differences between amino acid levels in thalassaemia subjects and controls. Positive correlations were found between serum iron and transferrin with age, also between transferrin with proline, valine, phenylalanine, aspartic acid, and glutamic. Phenylalanine and aspartic acid were significantly lower in subjects with transferrin lower than 180 µg/dL. Significant correlations were found between haemoglobin with essential and non-essential amino acid groups. From the cohort study, significant changes were observed in glycine, alanine, leucine, and aspartic acid. Conclusion: Amino acid profiles in thalassaemia patients differed compared to healthy controls, even after transfusion and chelation. Phenylalanine and aspartic acid were significantly lower in subjects with low transferrin levels.

Investigating the Effect of Thalassemia on Serum Creatinine, Uric Acid, and Cholesterol Levels

A thalassemia is a group of inherited blood disorders characterized by decreased or absent production of hemoglobin. Symptoms of thalassemia vary greatly from patient to patient but may include anemia, fatigue, and susceptibility to infections that can plague their quality of life. Therefore, a detailed evaluation of the serum biomarker profile in thalassemia patients is necessary to elucidate its effects on the body. This study was performed to define the serum biomarker profile. This study aimed to evaluate the serum marker levels among 100 thalassemic patients and compare them with their physiological ranges. Blood urea (B.UREA), serum creatinine (S.CREAT), aspartate aminotransferase (AST), alanine aminotransferase (Alt), alkaline phosphatase (ALP), total serum bilirubin (TSB), serum uric acid (S.U.A), triglycerides (TG), cholesterol (CHOL), albumin (Alb), serum calcium (S.CA) and Carbohydrate Antigen 15-3 (CA15.3) were analyzed comprehensively as key indicators in this study. The test showed that B. UREA's mean number was 24.33±0.8805, which was safe within normal limits. So, no abnormal results were found for this indicator in our tests despite the fact that others showed irregularity. The means of the values measured by S.CREAT, AST, AlT, AlP, TSB, S.U.A, TG, CHOL, AlB, S.CA, and CA15.3 were respectively, 0.8109±0.2007, 28.93±3.325, 26.1±2.698, 101±13.64, 3.261±1.978, 12.78±8.951, 146.8±87.2, 147.5±22.89, 67.94±44.7. This study makes valuable contributions to the field by elucidating the serum biomarkers of individuals with thalassemia and presenting changes in some markers compared to normal levels. However, further research is required in order to investigate the clinical significance of such alterations.2, 9.392±0.4079, and 42.08±7.275.

STUDY OF THE LONG-TERM EFFECTS OF DIABETES ON THE OVERALL HEALTH AND QUALITY OF LIFE IN THALASSEMIA PATIENTS

Thalassemia is a genetic blood disorder characterized by chronic anemia, requiring regular blood transfusions and chelation therapy. Diabetes mellitus is a common complication in thalassemia patients, primarily due to iron overload affecting the pancreas. This study investigates the long-term effects of diabetes on the overall health and quality of life in thalassemia patients. The research aims to understand how diabetes exacerbates complications associated with thalassemia and to identify strategies for improved management and care. The study includes a cohort of thalassemia patients with diabetes, compared to a control group of thalassemia patients without diabetes. Parameters assessed include glycemic control, incidence of diabetes-related complications, and overall health markers such as liver function, cardiovascular health, and renal function. Quality of life is measured using standardized questionnaires addressing physical, emotional, and social well-being. Preliminary findings indicate that thalassemia patients with diabetes have a significantly higher incidence of comorbid conditions, including cardiovascular disease and renal impairment (De Sanctis et al., 2016). Additionally, the quality of life in these patients is notably lower, with increased reports of fatigue, pain, and psychological distress (Haines et al., 2013). Effective management of diabetes in thalassemia patients, through regular monitoring and tailored treatment plans, is crucial in mitigating these adverse effects and improving patient outcomes (Farmaki et al., 2006). This study underscores the importance of integrated care approaches for thalassemia patients with diabetes, emphasizing the need for multidisciplinary teams to address the complex interplay of these conditions. Further research is needed to develop targeted interventions that can enhance the long-term health and quality of life for this vulnerable patient population. Results: study indicated that plant extracts exhibited higher inhibition than antibiotics. The minimum inhibitory concentration (MIC) while the results of the lowest inhibitory concentration of carvacrol for the bacterial species under study showed that it had an effect at a concentration of 615 µg/ml against Escherichia coli, 307.5 µg/ml for the species Corynebacterium stratium, Morganella morganii and Pseudomonas aeruginosa, and the least effect was 76.875 µg/ml on Staphylococcus aureus, it gave less results than the antibiotic used Carvacrol (Absorbance was measured at Wavelength 600) .

Evaluation of microstructural changes in the brain in transfusion dependent thalassemia patients with advanced magnetic resonance imaging techniques

PurposeTransfusion-dependent thalassemia (TDT) is associated with iron accumulation in the body and an increased tendency for thrombosis. With the increased life expectancy in these patients, the detection of neurocognitive complications has gained importance. This study investigates the microstructural changes in TDT patients using advanced diffusion MRI techniques and their relationship with laboratory parameters.MethodsThe study included 14 TDT patients and 14 control subjects. Tract-based spatial statistics (TBSS) were used to examine differences in DTI parameters such as fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) in thalassemia patients using multi-shell DWI images. The mean kurtosis (MK) difference was investigated using diffusion kurtosis imaging. Fiber density (FD), fiber cross-section (FC), and fiber density and cross-section (FDC) differences were examined using fixel-based analysis. In the patient group, correlative tractography was used to investigate the relationship between DTI parameters and platelet (PLT) and ferritin levels.ResultsIncrease in RD and MD was observed, particularly in the white matter tracts of the corona radiata in patient group. Additionally, an increase in AD was detected in a limited area. Correlative tractography in thalasemia patients showed a positive correlation between increases in RD, MD, and AD with PLT and ferritin. Fixel-based analysis demonstrated a dispersed distribution in white matter fibers, with a more pronounced decrease in FD, FC, and FDC in the internal capsule.ConclusionThere is widespread involvement in the white matter and fiber tracts in thalassemia patients, which is highly correlated with thrombotic parameters.

Early Detection of Renal Complication in Children With Sickle Cell Disease: A Single Center Prospective Study.

This observational cross-sectional study aimed to identify predictors of renal complications in pediatric patients with sickle cell disease (SCD) at King Salman Armed Forces Hospital, Tabuk, Saudi Arabia, over six months from February 2023 to July 2023. The study evaluated microalbuminuria as an early indicator of renal injury and explored its correlations with clinical and laboratory parameters and abdominal ultrasound (US) findings. Included were pediatric patients aged 1 to 14 years with confirmed SCD, excluding those with acute infections or pre-existing renal diseases. Data from 100 patients' electronic medical records were analyzed using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York, United States), with a significance set at p ≤ 0.05. The mean age was 7.6 ± 3.3 years, with 51 males and 49 females; 11 were diagnosed with Hb-S-beta thalassemia. Hydroxyurea (HU) compliance was high, with only four non-compliant patients, though all took folic acid. Among 42 tested for albuminuria, all had negative results (<30 mg/g creatinine). A significant association was found between SCD diagnosis and kidney, ureter, and bladder (KUB) US results (p=0.008), with abnormal KUB findings more prevalent in the Hb-S-beta thalassemia group. Patients with abnormal KUB results had significantly lower mean weight (p=0.024). Additionally, Hb-S-beta thalassemia patients had lower mean weight than hemoglobin SS (HGSS) patients (p=0.04). Though not statistically significant, Hb-S-beta thalassemia patients had higher mean systolic blood pressure (p=0.053). Significant associations were identified between SCD diagnosis type and renal US results, with lower body weight emerging as a potential predictor of renal complications. High HU compliance and its impact on renal outcomes warrant further investigation. Routine monitoring of microalbuminuria and KUB US may aid early detection of renal complications in pediatric SCD patients. Further studies with larger sample sizes are recommended to validate these findings and develop comprehensive renal protective strategies.

Assessment of Serum Autophagy Related Protein Beclin1 in Egyptian Adult Beta Thalathemic Patients

Abstract Background Beta-thalassemia is a chronic hemolytic anemia that is inherited in an autosomal recessive manner. It is characterized by reduced hemoglobin levels and red blood cell production. Aim of the Work Assessment of serum autophagy related protein beclin1 in Egyptian adult beta thalathemic patients and Its relation to ineffective erythropoiesis, transfusion requirements, iron overload. Subjects and Methods This is a case control study which was carried out at Ain Shams university hospitals. Internal medicine department, Clinical hematology and stem cell transplantation unit, outpatient clinic and inpatient department, during the period between January 2022 and August 2022. Results Our study revealed significant decreased fertility between patients group and control group (P = 0.011). Transfusion-dependent beta-thalassemia males have a high proportion of fertility impairment and iron overload might contribute to disturbed sperm quality and testicular tissue injury. Such findings might explain the high prevalence of impaired fertility in transfusion-dependent beta- thalassemia patients which agrees with our results. Also our study revealed significant differences between non-transfusion dependent group and transfusion-dependent group regarding spleen size (cm) below costal margin which was increased in (TD group), transfusion per year (ml/yr)(which was increased in (TD group), virology (HIV, HCV,HBV) revealed that percentage of HCV+ve higher in (TD group) with (P &amp;lt; 0.001): Our study revealed significant difference between non-transfusion- dependent group and Transfusion-dependent group regarding percentage of patients of with positive HCV which was increased in Transfusion-dependent group (P = 0.021): In our study Iron chelation therapy was found to be given in a higher percentage of TD patients compared to non TD patients (P &amp;lt; 0.001). Also our study revealed significant difference regarding cardic function(EF%) between patients group and control group (EF found to be lower in patients group than controls) (P &amp;lt; 0.001): Also our study showed that Beclin-1 level is significantly higher in patients group compared to control group (P &amp;lt; 0.001). We couldn’t find previous studies of Beclin-1 level in thalassemia patients. We postulate that Beclin 1 could be used as a marker of worsening cardiac functions in thalassemia patients, but further studies should measure serial levels of Beclin 1 and correlate it with cardiac parameters over longer periods of follow up. Conclusion Beclin 1 level increased in Adult Beta Thalasemia patients and it can be used as a prognostic marker for Adult Beta Thalasemia patients.

Immunophenotypic Evaluation of Circulating Monocyte Subsets in Beta Thalassemia Major Patients

Abstract Background β-thalassemia is a major public health problem in Egypt with particularly high incidence due to strong cultural preference for consanguineous marriages, and the high carrier rate. Iron overload, which is caused by increased gut iron absorption secondary to ineffective erythropoiesis, and regular blood transfusion is linked to accumulation within different organs with subsequent organ dysfunction. Monocytes are important lineages of innate immunity which activate the adaptive immune response and play a pivotal role in the host response to pathogens. Human blood monocyte subsets classification is based on the expression of CD14 and CD16 cell surface receptors. Aim of the Work To evaluate the circulating monocyte subsets in β-thalassemia major (β-TM) patients and its potential role in prediction of iron overload and chronic inflammation in β- thalassemia major patients. Patients and Methods A Case-Control study conducted on 40 previously diagnosed beta thalassemia major patients attending the outpatient clinic of Ain Shams University Pediatric Hospital, and 20 age and sex matched healthy control subjects. CBC, iron profile, CRP and immunophenotyping for monocyte subsets classification were done. Results Non classical monocytes were found statistically significantly higher in thalassemic patients especially in those with serum ferritin level &amp;lt; 1000 ng/ml (P value &amp;lt; 0.01). In addition, classical monocytes were found to be statistically significantly lower among the patients’ group (P value &amp;lt; 0.01). A negative correlation was found between intermediate monocytes and Transferrin saturation percent (TS%) suggesting its protective role in iron overload thalassemia patients. By using ROC curve, non- classical monocytes predicted ferritin &amp;lt; 1000 ng/ml at a cutoff point of 17.8 % and 0.05 x 10∧9/L for relative and absolute counts respectively. Conclusion All monocyte subsets proposed to have role in predicting iron overload and chronic inflammation β-TM patients. We recommend further studies on β-TM patients with the engagement of activity assays of monocyte subsets to clarify the co-regulatory role in iron hemostasis and chronic inflammation.

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to explore the impact of thalassemia genotypes, hepcidin antimicrobial peptide (HAMP) and hereditary hemochromatosis (HFE) gene variants, and hepcidin expression on serum ferritin and endocrinal complications in thalassemia patients. The study comprised fifty beta-thalassemia cases and fifty age- and sex-matched controls. Genotyping of the Beta-globin gene (HBB), HAMP, and exon 2 of the HFE gene was performed using Sanger sequencing. C282Y (c.845G > A) variant of the HFE gene was determined by PCR-RFLP. Hepcidin mRNA expression was assessed by qRT-PCR. Biochemical and hormonal studies were done for all patients. Hypogonadism and short stature were found in 56% and 20% of the investigated cases, respectively. Molecular studies reported a statistically higher frequency of the HAMP variant c.-582A > G in thalassemic patients than controls. Significant downregulation of hepcidin expression was found in cases compared to healthy subjects that was significantly associated with short stature. Considering the thalassemia alleles, the IVSI.1G > A (β0) allele was statistically related to hypogonadism. Our results proposed that thalassemia genotypes and downregulated hepcidin expression were the potential risk factors for endocrinopathies in our cases. We also demonstrated an increased incidence of the HAMP promoter variant c.-582A > G that might have a role in the pathogenesis of iron overload in thalassemic cases. Significant downregulation of hepcidin expression, that contributes to increased iron burden, could be used as a future therapeutic target in these patients.

Correlation between plasma biochemical parameters and cardio-hepatic iron deposition in thalassemia major patients

Introduction Major Thalassemia patients suffer from iron overload and organ damage, especially heart and liver damage. Early diagnosis and treatment with a chelator can reduce the complications and mortality of iron overload. Therefore, we aimed to investigate the biochemical and hematological predictors as an alternative and indirect indicator of iron deposition in heart and liver cells in comparison with the MRI T2* method as the gold standard. Material and method MRI T2* was evaluated in the heart and liver tissues of 62 major beta-thalassemia patients undergoing regular transfusion and chelator therapy. Biochemical and hematological factors were also measured, including serum ferritin, serum electrolytes, liver enzymes, hemoglobin, blood glucose, and serum magnesium. The correlation between these factors was assessed using statistical evaluations. Result Serum ferritin had a positive and significant correlation with liver siderosis based on MRI T2* (p-value = .015), and no significant association was observed with cardiac siderosis (p-value = .79). However, there was a significant positive correlation between cardiac iron deposition and fasting blood sugar level (p-value = −.049), and plasma level of liver enzymes (alanine aminotransferase (ALT) (p-value = .001), aspartate aminotransferase (AST ((p-value = .01)). Moreover, there was a significant negative correlation between cardiac iron overload and plasma magnesium level (p-value = .014). According to MRI T2*, there was no significant correlation between cardiac and hepatic iron overload (p value = .36). Conclusion An increase in blood sugar or liver enzymes and a decrease in serum magnesium was associated with an increase in cardiac iron overload based on MRI T2*. Liver iron overload based on MRI T2* had a significant correlation with serum ferritin.

Toxoplasmosis in thalassemic iraqi patients: serological and hematological study

Background. Toxoplasmosis is a zoonotic parasitic disease with high prevalence, it causes by an obligate intracellular parasite Toxoplasma gondii. Thalassemia is a blood disturbance has undergone through families in which the body makes an atypical form or sufficient amount of hemoglobin. The condition results in great numbers of red blood cells being damaged which cause to anemia. The purpose of this study was to identification the prevalence of T. gondii antibodies and hematological changes among thalassemic patients. Methods. Samples were collected during March to June 2022 from Al-Karama Teaching Hospital in Baghdad, Iraq. After doctors diagnosis, necessary blood tests to detect thalassemia in a group of 165 thalassemic patients and 80 healthy controls. Serum specimens were investigated for Toxo IgM and IgG antibodies using immunochromatography test and chemiluminescent (CIMA) test, their age from 2-45 years. Results. For immunochromatography test showed 44/165(26.67%) in thalassemic patients who have positive response for anti-Toxo IgG antibodies comparative with non-thalassemic control groups 33/80(41.25%) samples of have positive response for this test. The percentage infection with toxoplasmosis from thalassemia patients,60/165(36.36%) patients who have positive response for anti-Toxoplasma IgG antibodies as well as 25/80(31.25%) of non-thalassemic control group have positive response in chemiluminescent micro particle immunoassay(CMIA). However, result of CBC test showed that low significant levels in the group of thalassemic patients with toxoplasmosis with mean of Hb(8.286±0.128g/dl), MCV(62.027±2.146Fl), MCH(23.111±0.327pg) and MCHC (26.888±0.385 g/dl) respectively in comparison with control group.

Refractive Errors in Thalassemia Patients

Purpose: The objective of this study was to evaluate the frequency of refractive error among thalassemia patients. METHOD: This cross sectional study was performed in duration of six months at Sir Ganga Ram hospital from July, 2023 to August, 2023. A total of hundred (n=100) thalassemia patients, were included in this study between the age range of 17 to 30 years. All subjects with thalassemia were previously diagnosed. Objective refraction was accomplished with Auto-Refractometer (Axis), and vision was examined with Snellen chart/Log Mar chart. SPSS version 26 was used to analyze the results. Chi-Square test was applied to find the significance of data. P-value &lt;0.05 was considered as significant. Results: The mean age of participants was 21.28±3.39 years. In the right eye of thalassemia patients, the result showed that 51% were emmetropic, 11% had hyperopia, 1% had hyperopic astigmatism, 20% had myopia, and 17% had myopic astigmatism. In the left eyes of patients, 52% were emmetropic, 10% had hyperopia, 2% had hyperopic astigmatism, 18% had myopic astigmatism, and 18% had myopia. P-value was 0.043. Conclusion: The cross sectional study results conclude that patient’s vision may not be significantly affected by thalassemia. Thalassemia patients were more effected with Myopia. While hyperopic astigmatism was least effected.

Perceived Physical, Emotional and Monetary Burden among Caregivers of Thalassemia Patients: An Evidence-based Study from District Gujrat, Pakistan

Thalassemia is among the most challenging hereditary blood disorders with no permanent cure. The patients of thalassemia have to face multidimensional complications that may lead to physical, emotional, social, and monetary burdens, among others, that negatively affect the patients, their families, and especially the caregivers. The caregivers feel the burden owing to the long-standing character of the diseases and the struggling process for curing patients, and the caregivers have to face numerous burdens that lead them towards anxiety, depression, social withdrawal, aggression, poor relationships, lower productivity, and many others. The prime objective of this study is to understand the physical, emotional, and monetary burdens faced by caregivers, and primary data for this quantitative study were collected from caregivers of thalassemia patients of district Gujrat. Researchers applied the purposive sampling technique and a structured questionnaire to approach the study participants. The findings highlighted that the caregivers of thalassemia patients face a large number of physical (continued attachment, tiredness, isolation, lower productivity), emotional (aggression, depression, fear of losing a loved one life), and monetary (visiting health centers, arranging blood donors, travel and transportation, personal obligations) burdens that have significant impacts on their socio-economic, psychological and physical health.

A retrospective survey on follow-up of splenectomy patients due to β-thalassemia and Sickle cell Anemia in Karbala, Iraq during 2010-2023

Background: Hemoglobinopathy is considered a common monogenetic genetic disorder worldwide. Splenectomy is considered a therapeutic strategy in patients with hemoglobinopathy. The aim of current study was to provide a survey on the splenectomy and 5 years follow-up in different clinical forms of β-thalassemia (intermedia, Major) and Sickle cell Anemia (SCA) patients who referred to Hereditary Blood Disease Center in the Karbala Teaching Hospital for Children in Karbala, Iraq. Materials and Methods: In this retrospective study we tried to evaluate 126 hemoglobinopathy and thalassemia patients from Karbala City, Iraq. All cases of splenectomy due to hemoglobinopathy and thalassemia during 2010-2023 who referred to the Hereditary Blood Disease Center in the Karbala Teaching Hospital for Children in Karbala, Iraq were included. Patient data was collected at three-time points. The first was after the splenectomy, the second during 1-5 years, and the third step after 5 years. Clinical and laboratory data were retrieved from the patient’s file. Results: The mean age of splenectomy of included patients was 14.1±7.5 years. From 126 cases, 103 (81.74%) were β-Thalassemia, 13 (10.32%) were SCA, and 10 (7.94%) were Sickle cell beta-thalassemia. The mean age in SCA was significantly less than two other groups (mean age in β-Thalassemia, SCA and Sickle cell beta thalassemia were 18.2±8.7, 24.2±12.7 and 25.2±9.5, respectively) (p=0.008). Platelet and WBC count represents a significant increase during 1-5 years after splenectomy in comparison with 1 year after splenectomy (for Platelet and WBC p=0.03 and 0.001, respectively). Conclusion: splenectomy is considered the last therapeutic option in hemoglobinopathy patients. All Hemoglobinopathy patients represented significant improvement after splenectomy. Because there was no suitable treatment in the past, splenectomy was considered a therapeutic solution. It should be said that periodic follow-up of splenectomy patients in hemoglobinopathy plays an important role in improving the management of these diseases.

Correlation of OPG/RANKL in patients with thalassemia major at the center of Haemoglobinopathy Lushnje, Albania

Osteoporosis is an important cause of morbidity in hemoglobinopathy patients. It is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. Osteoprotegerin (OPG) and receptor activator of NF-kappa-B ligand (RANKL) have recently been implicated in the pathogenesis of various types of osteoporosis. Our study aimed to determine the correlation between OPG/RANKL and patients affected by thalassemia major at the Center of Hemoglobinopathy in Lushnje. Methods: We measured serum OPG and RANKL levels in 70 patients with Thalassemia major and 67 healthy controls, determining correlations with BMD. Results: Serum OPG levels were significantly lower in thalassemic patients compared to the control group. Serum RANKL levels were higher in β-thalassemia patients compared to controls. 31.1% of our patients with Thalassemia major had osteoporosis and 21.6 % had osteopenia. We found a correlation between OPG-BMD (r=-0.768, p=0.000, and RANKL-BMD (r=0.468; p=0.000). Conclusion: OPG and RANKL in Thalassemia major patients should be considered as the main factors responsible for osteoclast activation.

Cognitive debriefing and the validity of the Malay EQ-5D-3L in transfusion-dependent thalassemia patients from Sabah, Malaysia

Cognitive debriefing and the validity of the Malay EQ-5D-3L in transfusion-dependent thalassemia patients from Sabah, Malaysia

Association of serum ferritin trends with liver enzyme patterns in β-thalassemia major: A longitudinal correlational study.

β-Thalassemia major patients require lifelong blood transfusions, leading to iron overload and liver injury. This study examines the longitudinal association between serum ferritin and liver function over 5 years in pediatric patients. This retrospective study included 582 transfusion-dependent thalassemia patients aged 1-18 years. Serum ferritin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and albumin were measured annually. Correlation and linear regression analyses assessed associations between ferritin trajectories and liver enzymes. Mean ferritin rose from 1820 ± 960 ng/mL at baseline to 4500 ± 1900 ng/mL at year 5, indicating worsening iron overload. AST and ALT levels also steadily climbed over follow-up, whereas albumin declined slightly. Ferritin correlated positively with AST (r = 0.675, P < 0.01) and ALT (r = 0.607, P < 0.01), but not with albumin (r = -0.143, P = 0.153) annually. The regression interaction term showed within-patient ferritin increases over time were independently associated with escalating AST and ALT (P < 0.05), after adjusting for confounders. Rising ferritin levels predict progressive liver injury in regularly transfused pediatric thalassemia patients. Tighter control of iron overload may help preserve hepatic function.

Prevalence and risk factors predisposing low bone mineral density in patients with thalassemia.

A common complication of thalassemia is secondary osteoporosis. This study aimed to assess the prevalence and factors associated with low BMD in thalassemic patients. This is a cross-sectional study. Eligible patients were males aged within 18-49 years or premenopausal women diagnosed with thalassemia in Chiang Mai University Hospital between July 2021 and July 2022. The diagnosis of low BMD by dual-energy x-ray absorptiometry (DXA) was defined as a Z-score of -2.0 SD or lower in either the lumbar spine or femoral neck. Clinical factors associated with low BMD were analyzed using a logistic regression model. Prevalence of low BMD was 62.4% from 210 patients with a mean age of 29.7 ± 7.6 years. The predominant clinical characteristics of low BMD thalassemia patients were being female, transfusion-dependent (TDT) and a history of splenectomy. From multivariable analysis, the independent variables associated with low BMD were transfusion dependency (odds ratio, OR 2.36; 95%CI 1.28 to 4.38; p=0.006) and body mass index (BMI) (OR 0.71; 95%CI 0.61 to 0.82; p<0.001). Among patients with low BMD, we observed a correlation between a Z-score with low IGF-1 levels (β=-0.42; 95% CI -0.83 to -0.01; p=0.040), serum phosphate levels (β=0.40; 95% CI 0.07 to 0.73; p=0.016) and hypogonadism (β=-0.48, 95% CI -0.91 to -0.04, p=0.031). This study found a prevalence of low BMD in 62.4% of subjects. Factors associated with low BMD were TDT and BMI. Within the low BMD subgroup, hypogonadism, serum phosphate and low serum IGF-1 levels were associated with a lower Z-score.

Comparative Study of Mesiodistal Crown Dimensions and Tooth Size Discrepancies of Thalassemia and Control Iraqi Patients

Aims: To find differences in mesiodistal tooth width in Iraqi B thalassemia compared with normal individuals. Setting and design: 44 subjects, 22 thalassemia (11 males, 11 females) (12.5–22) years, and 22 control (11 males, 11 females) 14–23 years. Methods and Material: Registrations of MD for maxillary and mandibular teeth from the first molar on one side to analogous tooth on the other side were done. Statistical analysis: Mean, standard deviation and 2-sampled t-test were used. Results: In both groups, males’ crown size was greater than females. In the study group largest gender variances appear in the maxillary molars, mandibular molar, maxillary central and maxillary canine respectively. In control, the greatest sexual difference is present in the maxillary first premolar followed by the mandibular second premolar. The means of mesiodistal in both sexes in thalassemia were smaller than in control except in male maxillary central and lateral and female maxillary lateral incisor. In the maxilla, a significant decrease in mesiodistal thalassemia is present in canine and second premolar in both sexes. In the mandible, a significant decrease in thalassemia was present in all comparisons in both genders in comparison with the control. The greatest mesiodistal difference in the mandibular male is present in the first molar, first premolar, second premolar, canine, lateral and central incisor respectively. In female mandibular teeth, the greatest difference is present in the first molar followed by the first premolar, second premolar, canine, lateral incisor and central incisor. Conclusions: Means mesiodistal dimensions in thalassemia show a significant reduction in mandibular teeth and maxillary canine and second premolar in both genders.

Alloimmunization and autoimmunization among multitransfused thalassemia and sickle cell disease patients

Blood transfusion is the mainstay for management of hemoglobinopathies, including thalassemia and sickle cell disease (SCD). Apart from other transfusion related adverse effects, immunization is a significant complication, particularly in multitransfused recipients. Alloimmunization rates vary widely, both in thalassemia and SCD patients. Alloimmunization complicates the management in form of hemolytic transfusion reactions, difficulty in finding compatible units, delays in transfusion and increasing costs. Exact pathogenesis and prevention modality have not been elucidated. Apart from antigenic differences, immunomodulatory effects and inflammation also play a role in pathogenesis. Ethnic heterogeneity between donors and recipients predisposes to higher alloimmunization.Transfusion management of hemoglobinopathies across the globe is fragmented, with different levels of care. Guidelines propose red cell antigen profiling, transfusion of leucoreduced red cells, preferably matched for Rh and Kell antigens, over and above ABO-D matching. For alloimmunized patients, corresponding antibody negative red cells need to be transfused. However, patients from different backgrounds are variably transfused with whole blood/red cells, which may or may not be leukoreduced. Prophylactic antigen matching reduces the risk of alloimmunization, however, has limitations. RH variants may not be picked up by phenotyping alone. Moreover, the approach of prophylactic antigen matching is expensive, labour intensive, time consuming and may cause delays in transfusions. There is limited, low quality evidence on best practices for transfusion management of SCD and thalassemia. The review analyses the magnitude of problem, factors contributing and modalities for prevention and management of immunization.