Thalassemia Research Articles

Prevalence and Significance of Pancreatic Iron in Transfusion-Dependent Sickle Cell Disease.

Chronically transfused patients with sickle cell disease (SCD) and beta thalassemia major (TM) develop iron overload. Determine the impact of iron overload on glucose regulation in SCD. Prospective study of 28 patients with SCD and 38 patients with TM who underwent liver and pancreas R2* measurements and oral glucose tolerance tests. Impaired fasting glucose (2 vs. 9, p=0.27) and impaired glucose tolerance (1 vs. 11, p=0.019) were less common in patients with SCD compared with patients with TM. No SCD patient had diabetes. Iron-mediated glucose dysregulation is present but less common in SCD patients.

Frequency of Hepatitis B, C and HIV Infections among Transfusion-Dependent Beta Thalassemia Patients in Bangladesh Shishu Hospital and Institute

Frequency of Hepatitis B, C and HIV Infections among Transfusion-Dependent Beta Thalassemia Patients in Bangladesh Shishu Hospital and Institute

Evaluation of RBC Indices and Significance of Mentzer Index for Differentiation Between Iron Deficiency Anemia and Beta Thalassemia Trait

Evaluation of RBC Indices and Significance of Mentzer Index for Differentiation Between Iron Deficiency Anemia and Beta Thalassemia Trait

Evaluation of Beta Globin Gene Mutations in Mersin, Turkey: A Single Center Experience

Beta-thalassemia is the most common single gene disease worldwide with an autosomal recessive inheritance caused by the deficiency or absence of β-globin chain synthesis. The aim of our study is to evaluate the types and frequencies of mutations in patients diagnosed with beta thalassemia in the province of Mersin. Clinical data of 292 patients who underwent hemoglobinopathy screening at Mersin University Faculty of Medicine Hospital between 2017 and 2019 were retrospectively analysed. Of the 292 patients with mutations in the HBB gene, 55.5% (n=162) had beta thalassemia. In patients with beta thalassemia, 32 different mutations, including 4 abnormal Hb variants, and 12 different compound heterozygous β-tal mutations were detected in 22 of these patients. The most commonly seen allele was c.93-21G>A with a frequency of 25.2%. The most common compound variation was HBB:c.*233G>C/HBB:c.92+6T>C/A, (27.4%). We detected the mutation HBB:c.92+5G>A, which has not been previously reported in Turkey. The types and frequencies of beta-thalassemia mutations vary among geographic regions. This study examined the prevalence of beta-thalassemia mutations at the molecular level and enhanced the detection rate of unidentified mutations by DNA sequence analysis. Identification of new mutations in beta-thalassemia is useful for genetic counseling, prenatal diagnostic, screening programs, and literature.

A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets

This study explores the performance of deep learning models, specifically Convolutional Neural Networks (CNN) and XGBoost, in predicting alpha and beta thalassemia using both public and private datasets. Thalassemia is a genetic disorder that impairs hemoglobin production, leading to anemia and other health complications. Early diagnosis is essential for effective management and prevention of severe health issues. The study applied CNN and XGBoost to two case studies: one for alpha-thalassemia and the other for beta-thalassemia. Public datasets were sourced from medical databases, while private datasets were collected from clinical records, offering a more comprehensive feature set and larger sample sizes. After data preprocessing and splitting, model performance was evaluated. XGBoost achieved 99.34% accuracy on the private dataset for alpha thalassemia, while CNN reached 98.10% accuracy on the private dataset for beta-thalassemia. The superior performance on private datasets was attributed to better data quality and volume. This study highlights the effectiveness of deep learning in medical diagnostics, demonstrating that high-quality data can significantly enhance the predictive capabilities of AI models. By integrating CNN and XGBoost, this approach offers a robust method for detecting thalassemia, potentially improving early diagnosis and reducing disease-related mortality.

Nursing Care of a Patient Diagnosed with Thalassemia Major According to Gordon’s Functional Health Patterns Model: A Case Report

Introduction: Thalassemia is a subtype of Mediterranean anemia, a genetic disease, and is caused by genetic defects during the synthesis of the hemoglobin molecule. It is closely associated with errors in the α and β globin synthesis genes. This genetic disorder can cause various problems in basic health areas. Case Report: B.A., a 15-year-old girl, was diagnosed with thalassemia and type 1 diabetes, resulting in frequent hospitalizations due to fatigue, infections, and blood sugar management issues. She also faced stress, emotional instability, and a decline in her quality of life. A comprehensive assessment using Gordon’s Functional Health Patterns Model identified nursing diagnoses by NANDA-I (North American Nursing Diagnosis Association - International). B.A.’s family, with limited knowledge about her conditions, actively participated in educational programs. Interventions included stress management, patient education, family training, psychosocial support, and physical rehabilitation. Conclusion: Results of these interventions lead to improvements in B.A.’s stress, self-esteem, sleep, attention, and physical activity. This case highlights the effectiveness of Gordon’s Model in managing thalassemia and diabetes, positively impacting B.A.’s quality of life. It is recommended that future qualitative and quantitative studies or case presentations, be conducted with larger sample sizes.

Liver Abscesses in Patients With Beta Thalassaemia Major: A Case Series and Mini-Review of the Literature

Liver Abscesses in Patients With Beta Thalassaemia Major: A Case Series and Mini-Review of the Literature

Beta thalassemia syndromes: New insights.

Beta thalassemia (β-thalassemia) syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin. The hallmarks of the disease include ineffective erythropoiesis, chronic hemolytic anemia, and iron overload. Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications. The management of patients with severe β-thalassemia represents a global health problem, particularly in low-income countries. Until recently, management strategies were limited to regular transfusions and iron chelation therapy, with allogeneic hematopoietic stem cell transplantation available only for a subset of patients. Better understanding of the underlying pathophysiological mechanisms of β-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options, including pharmacologic enhancers of effective erythropoiesis and gene therapy.

Early Detection of Myocardial Involvement in Thalassemia Intermedia Patients: Multiparametric Mapping by Magnetic Resonance Imaging.

No study has assessed myocardial T1 and T2 values in patients with beta-thalassemia intermedia (β-TI). To assess the prevalence of myocardial involvement in β-TI patients by T2* relaxometry and native T1 and T2 mapping and to determine the correlation of myocardial relaxation times with demographic and clinical parameters. Prospective matched-cohort study. 42 β-TI patients (27 females, 39.65 ± 12.32 years), enrolled in the Extension-Myocardial Iron Overload in Thalassaemia Network, and 42 age- and sex-matched healthy volunteers (27 females, 40.01 ± 11.36 years) and thalassemia major (TM) patients (27 females, 39.27 ± 11.57 years). 1.5 T/multi-echo gradient echo, modified Look-Locker inversion recovery, multi-echo fast-spin-echo, cine balanced steady-state-free precession, and late gadolinium enhancement (LGE) sequences. Hepatic, pancreatic, and left ventricular (LV) T2* values, LV native T1 and T2 values, biventricular ejection fractions and volumes, and presence and extent of replacement myocardial fibrosis. Comparisons between two groups were performed with two-sample t tests, Wilcoxon's signed rank tests, or χ2 testing. Correlation analysis was performed using Pearson's or Spearman's test. P < 0.05 was considered statistically significant. β-TI patients had significantly higher LV T2 values than healthy subjects (56.84 ± 4.03 vs. 52.46 ± 2.50 msec, P < 0.0001) and significantly higher LV T1 values than TM patients (1018.32 ± 48.94 vs. 966.66 ± 66.47 msec, P < 0.0001). In β-TI, female gender was associated with significantly increased LV T1 (P = 0.041) and T2 values (P < 0.0001), while splenectomy and presence of regular transfusions were associated with significantly lower LV T1 values (P = 0.014 and P = 0.001, respectively). In β-TI patients, all LV relaxation times were significantly correlated with each other (T2*-T1: P = 0.003; T2*-T2: P = 0.003; T1-T2: P < 0.0001). Two patients with a reduced LV T2* also had a reduced LV T1, while only one had a reduced LV T2. Three patients had a reduced LV T1 but a normal LV T2*; 66.7% of the patients had an increased LV T2. All LV relaxation times were significantly correlated with pancreas T2* values (T2*: P = 0.033; T1: P < 0.0001; T2: P = 0.014). No LV relaxation time was associated (P > 0.05) with hepatic iron concentration, biventricular function parameters, or LGE presence. The combined use of all three myocardial relaxation times has potential to improve sensitivity in the detection of early/subclinical myocardial involvement in β-Tl patients. 2 TECHNICAL EFFICACY: Stage 2.

Analysis of Genetic Test Results and Red Blood Cell Parameters of β-Thalassemia in Kunming Area

Analysis of Genetic Test Results and Red Blood Cell Parameters of β-Thalassemia in Kunming Area

Serum folate and dietary folate intake in beta thalassaemia trait: a case–control study from Sri Lanka

ObjectivesIneffective erythropoiesis, although at a mild degree, could make individuals with beta thalassaemia trait (BTT) vulnerable to folate deficiency. This could be more pronounced in communities where dietary intake of...

Anxiety and depression in adolescents with beta thalassaemia major

Purpose: The course of Beta Thalassaemia Major triggers children's susceptibility to anxiety and depressive mood. The aim of this study was to determine the frequency of anxiety and depression in adolescents with Beta Thalassaemia Major and its relationship with hospitalisation. Materials and Methods: This correlational case-control study was conducted with a total of 77 healthy children (case=39, control=38) with a confirmed diagnosis of major thalassaemia. The data were collected using the "Descriptive Information Form", Revised Child Anxiety and Depression Scale - Child Version (RCADS-CV) and Hospital Anxiety and Depression (HAD) Scale. Results: When the comparison of the mean RCADS-CV scores according to the groups was analysed, it was found that the mean Major Depressive Disorder sub-dimension score was significantly higher in the case group. It was found that 61.5% of the children in the case group and 92.1% of the children in the control group experienced moderate depression and the difference was statistically significant. In addition, when the RCADS-CV cut-off score of 71 and above was evaluated, it was found that 12.8% of children with Beta Thalassaemia Major had a pathological picture. Conclusion: The high prevalence of major depressive disorders in children with Beta Thalassaemia Major and hospitalisation-related depression levels in healthy children is highly significant.

Ferritin Relationship with Clinical Changes, Nutrient Elements, Vitamins D and C and Liver, Kidney Functions in Beta-Thalassemia Major Patients

Objective: The current study was carried out to study ferritin levels and their effect on nutrient and Vitamins C&amp;D levels in patient with beta thalassemia major. Study Design: Case series study Place and Duration of Study: This study was conducted at the Department of Biochemistry, Thalassemia Center for Genetic Blood Diseases in Thi Qar University, southern Iraq from November 2023 to April 2024. Methods: Current study studied 48 cases of beta thalassemia major and 44 healthy as controls, aged range (8-22) years. Biochemical and hemotograte ferritin, calcium, potassium, iron, sodium, D and C vitamins. Enzymes were measured: alanine aminotransferase, alkaline phosphatase, aspartate aminotransferase, urea, creatinine and total Bilirubin levels. Results: The study found highly statistically significant in ferritin (1624.81 μg/L) and a significant decrease in hemoglobin (Hb) levels (7.205 g/dL) vitamins D and C recorded 17.319 μg/L, 1.202mg/dl respectively, also a significant increase in AST (39.38 IU/L) , ALT (58.71 IU/L )and TSB (2.52 mg/dL), and a decrease in ALP( 73.90IU/L) ,urea (27.01mg/dL) and Creatinine (0.80mg/dL), also calcium ( 3.03 mg/dL), (P &gt; 0.05) and potassium (3.08mmol/L) and a significant increase in sodium (139.14 mmol/L) and iron (164.47μg/dL) in patients compared to healthy group. Conclusion: The present study showed differences in ferritin, calcium, potassium, sodium, ions, and vitamins D and C content in the serum of beta thalassemia patients compared with the control group.

A Systematic Review on: Diagnostic Accuracy of MCV/RBC Count Ratio (Mentzer Index) for Screening of Beta-Thalassemia Trait

Introduction: Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production. Beta thalassemia, one of its primary forms, affects populations across regions from Africa to Southeast Asia. Differentiating beta-thalassemia from iron deficiency anemia (IDA) is essential, with the Mentzer index (MCV/RBC count ratio) being a simple and cost-effective screening tool. Objective: To assess the diagnostic accuracy of the Mentzer index for screening beta-thalassemia through a systematic review and meta-analysis. Methods: A systematic search was conducted using relevant keywords and MESH terms in Cochrane Library and MEDLINE. Studies published in English up to March 2017 were included. Quality was assessed using QUADAS-2. Pooled sensitivity, specificity, and diagnostic odds ratios were calculated. Meta-regression analyzed factors affecting diagnostic accuracy. Results: Twenty-seven studies were included in the review. Pooled sensitivity, specificity, AUC, and diagnostic odds ratio for the Mentzer index were 0.84, 0.88, 0.93, and 38, respectively. Fagan’s plot showed increased post-test probability to 88% when positive, and reduced to 15% when negative. Meta-regression identified study design as a key factor influencing diagnostic accuracy. Conclusion: The Mentzer index is an effective screening tool for beta-thalassemia, providing reliable differentiation from IDA. Its use in mass screening could help reduce the burden of thalassemia, particularly in resource-limited settings.

Vitamin D Status in Children with Thalassemia Major

Objective: To determine the vitamin D status in children with transfusion dependent beta thalassemia major attending outpatient department of Military hospital of Rawalpindi. Study Design: Cross sectional study. Place and Duration of Study: Outpatient Department, Pak Emirates Military Hospital, Rawalpindi Pakistan, from Jan to Oct 2020. Methodology: All transfusion dependent beta-thalassemia major patients irrespective of age and sex were consecutively enrolled. Serum 25-hydroxy vitamin D3 (25(OH)D3) level was measured for the assessment of vitamin D status. Vitamin D sufficiency was defined as serum level of 25-OHD &gt;30 ng/ml, vitamin D insufficiency was defined as serum 25-OHD 30-20 ng/ml, while vitamin D deficiency was defined as serum 25-OHD &lt;20-10 ng/ml. Results: Of 162 children, 79(48.8%) were males and 83(51.2%) were females. The mean age was 5.8±2.63 years. Vitamin D deficiency was observed in 43(26.5%) patients, vitamin D insufficiency in 85(52.5%), while vitamin D sufficiency in 34(21.0%) patients with (p-value &lt;0.352). A statistically significant association of vitamin D status was observed with regular use of vitamin D supplementation (p-value &lt;0.001), calcium supplementation (p-value &lt;0.001) and bone pains (p-value of &lt;0.001). Type of iron chelation and serum ferritin level (p-value &lt;0.001) were also found to be statistically significant. Association of vitamin D level with regular blood transfusion and frequency of blood transfusion was not found to be statistically significant (p-value&lt;0.231). Conclusion: Children with beta thalassemia had a significant prevalence of vitamin D insufficiency, which contributes to bone damage.

Identifying the Lower Limit of Haemoglobin A2 in Individuals with Beta Thalassemia Trait

Objective: To determine the sensitivity, specificity and diagnostic accuracy of High Performance Liquid Chromatography in the detection of β-thalassemia trait. To determine the lower cut-off limit of HbA2 in the detection of β-thalassemia trait by using High Performance Liquid Chromatography. Study Design: Validation study. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi Pakistan, from Aug 2021 to Mar 2022. Methodology: A total of 243 patients with suspected β-thalassemia were included in this study. Inclusion criteria included patients with a mean corpuscular volume of less than 75 fl and a mean corpuscular haemoglobin of less than 25 pg. Those patients who had received blood transfusions within the past three months, had any other haemoglobinopathy, abnormal iron studies or β-thalassemia major were excluded. Blood samples were obtained from all patients which were tested for the presence of HbA2 using High Performance Liquid Chromatography and genetic mutation of beta globin chain was confirmed by PCR methods. Data was analyzed by SPSS 26.0. Results: Our patients had a mean age of 25.57±13.12 years with a female majority: 132(54.3%). A total of 132(54.3%) patients tested positive for β-thalassemia trait with a cut-off of 4.0% using HPLC, while 130(53.5%) tested positive for beta globin gene mutation using PCR. High Performance Liquid Chromatography was found to have a sensitivity of 96.2%, a specificity of 93.8% and a diagnostic accuracy of 95.1% with a cut-off of 4.0%. ..... Conclusion: High Performance Liquid Chromatography is an excellent modality for the....

Evaluation Of Hepcidin And Iron Concentrations With Liver And Kidney Functions In Beta-Thalassemia Patients

The goal of this research was to estimate the concentrations of iron and hepcidin with liver and kidney functions in beta-thalassemia patients, the study involved the collection of 80 blood samples from both sexes, and the samples were distributed into 45 samples for beta thalassemia patients, their ages ranged between 15-25 years, the samples were collected from the Thalassemia Specialization Center in Baquba General Hospital, and 35 blood samples for healthy people as a control group, their ages extended from 15 to 25. years, during the period from the beginning of March 2023 until the end of May 2023. The study's findings revealed a considerable increase in the concentrations of hepcidin and iron in patients group compared with the healthy ones. It also displayed a significant reduce in the patients' albumin and creatinine concentrations as compared with healthy group, while the results here were no significant variations in total protein, urea and uric acid levels.

Pattern of Transfusion Related Zinc and Copper Derangements in Beta Thalassemia Major Patients

Objective: To assess serum zinc and copper levels in beta thalassemia major patients as compared to healthy subjects. Study Design: Comparative cross-sectional study. Place and Duration of Study: Chemical Pathology and Endocrinology Department Armed Forces Institute of Pathology, in collaboration with Armed Forces Institute of Transfusion, Rawalpindi Pakistan, from Jan 2021 to Jun 2021. Methodology: The patients of transfusion dependent thalassemia major aged between 4 to 35 years were included in the study along with healthy subjects in 1:1. After collection of blood samples in plain serum tubes, serum Zinc (Zn) and copper (Cu) levels of all subjects were analyzed on atomic absorption spectrophotometer. Zn and Cu levels were expressed as Mean±SD. Independent sample t-test with significant p-value of ≤0.005 was used to compare Zn and Cu concentration of patients with thalassemia major with that of healthy controls. Results: Study included 80 subjects (40 patients and 40 controls) with mean age of 13.33±7.69 years. The mean value of serum Zn and Cu in beta thalassemia major patients were 8.62±1.77 µmol/L and 14.46±5.92µmol/L respectively as compared to 15.08±2.8 µmol/L and 13.45±2.80 µmol/L in healthy controls. Zn levels showed a statistically significant difference (p=0.005) between two groups while Cu levels also showed statistically significant difference (p=0.03) between the two groups. Conclusion: Beta thalassemia major patients showed significantly lower levels of serum zinc and higher levels of serum copper as compared to healthy controls which should be taken into consideration for continuous monitoring and prompt correction.

Prevalence and Detection of Novel Thalassemia Variant hemoglobin J in Extensive Tharu Population.

Thalassemia is an autosomal recessive genetic disorder that disrupts hemoglobin production, resulting in varying degrees of anemia and associated health problems. In the Terai region of southern Nepal and northern India, the Tharu people has a high prevalence of hemoglobinopathies, including beta and alpha thalassemia. This study sought to ascertain the prevalence of hemoglobinopathies in Tharu school-age children in Lakhimpur Kheri, Uttar Pradesh, as well as the associated hematological and demographic traits. In cooperation with the National Medical Organization (NMO) and Rashtriya Swayamsevak Sangh (RSS), the study was carried out between February 22-26, 2023. 369 blood samples were taken from youngsters enrolled in school. The BIORAD VARIANT algorithm was utilized to diagnose thalassemia characteristics and hemoglobinopathies using High Performance Liquid Chromatography (HPLC). The relationships between hematological markers, diagnostic results, and demographic factors were assessed by statistical analysis. (1) Normal cases: 78.8% of participants were classified as normal. (2) Beta thalassemia heterozygous: 6.2%. (3) HbJ Meerut heterozygous: 4.0%. (4) HbS heterozygous: 9.8%. Statistical analysis revealed a significant association between sex and diagnosis (p=0.001), while no significant association was observed between age and diagnosis (P = 0.846). Hematological parameters, including Mean Corpuscular Volume (MCV) and Mean Corpuscular Hemoglobin (MCH), differed significantly across diagnostic groups (P < 0.05). Variations in hemoglobin types Hb A, Hb F, and Hb A2 were statistically significant (P < 0.001). The study highlights a high prevalence of hemoglobinopathies within the Tharu community, emphasizing the need for accurate diagnosis and awareness campaigns to manage the disorder effectively. By reducing stigma and empowering the community with knowledge, these efforts can improve outcomes for individuals with thalassemia and related disorders.

Comparison of the Diagnostic Value of Mentzer Index and RDW Index in the Screening of Beta Thalassemia Trait and Iron Deficiency Anemia

Background: Beta thalassemia trait is one of the common forms of hemoglobinopathies in Bangladesh. Individuals having beta-thalassemia trait have microcytic hypochromic anemia and asymptomatic course may be similar as that of iron deficiency anemia (IDA).So, it is important to differentiate between beta- thalassemia trait and non-thalassemia microcytosis as both conditions share common characteristics. Though the definitive diagnosis those patients of thalassemia trait is possible only by Hb-electrophoresis their certain blood indices which can differentiate between thalassemia trait and iron deficiency anemia. Mentzer index and RDW index are such index. Objectives: The aim of our study was to evaluate the reliability of Mentzer index and RDW index in the differentiation of iron deficiency anemia and beta thalassemia trait.Materials and Methods: This study was an observational study done on 120 patients. Only those patients who have been found to be having iron deficiency anemia by iron studies and cases of beta thalassemia trait who have been diagnosed by electrophoresis were included in this study. Those Patients who have received blood transfusion within 3 months study were excluded from the study. Mentzer index and RDW index of all the patients were calculated and the results were analyzed.Results: Mentzer index more than 13 presumed iron deficiency anemiaand less than 13 presumed thalassemia traits. Similarly, RDW index more than 220 presumed IDA and RDW index less than 220 presumed BTT are found to be reliable screening tool to differentiate in between iron deficiency anemia and thalassemia.Conclusion: Iron deficiency anemia and thalassemia trait can be reliably differentiated by Mentzer index and RDW index. In resource poor and developing countries like Bangladesh it can be used as screening tool. KYAMC Journal. 2024; 15(02): 73-76