Thalassemia Clinic Research Articles

Prevalence of HIV, hepatitis B and hepatitis C infections among patients with thalassemia attending a tertiary care (rural) hospital.

The Sunderban area of West Bengal is home to tribal and religious minorities inhabiting various islands. There is a high prevalence of thalassemia among poverty-stricken residents of this region living with meagre health care facilities. This work was planned to determine the proportion of four viral transfusion-transmitted infections (TTIs): HIV-1, HIV-2, hepatitis B virus (HBV) and hepatitis C virus (HCV) among thalassemia patients attending the sole rural medical college in the region. Thalassemia patients (n = 359, age ranging from 1 year to 60 years) attending the thalassemia clinic or being admitted to the indoor facilities for better management were included in the study. Only patients diagnosed with high-performance liquid chromatography (HPLC) and with classical clinical features were included in the study. Blood samples of these patients were tested for HIV as per NACO protocol. For HBV and HCV, samples were first tested serologically; reactive samples were collected and sent in the cold chain to a higher centre for nucleic acid amplification testing (NAAT) for qualitative and quantitative estimation. Clinical and laboratory data was collected, patients were followed up for complications and hospitalisation during the study period, and statistical analysis was performed. Majority of our patients had E-beta-thalassemia (245, 59.81%), followed by beta-thalassemia major (102, 28.30%). NAAT-confirmed HCV infection (14.21%) infection was the most common, followed by HBV (2.51%), and lastly by HIV-1 (0.58%) infection. Among infected thalassemia patients, the mean HCV RNA was 741063 ± 438514.67 IU/ml while the mean HBV DNA level was 4082863 ± 7298514 IU/ml. Co-infections of HIV-1 and HCV and that of HBV and HCV were noted in one patient each (0.28%). HCV-related liver disease (14.21%) and growth retardation (10.31%) were the most typical complication noted, and death occurred in five patients (1.39%) during the study period. Primary care physicians should know HCV infection is the most common TTI among thalassemia patients in rural eastern India.

Acute and Chronic Effects of Interval Aerobic Exercise on Hepcidin, Ferritin, and Liver Enzymes in Adolescents With Beta-Thalassemia Major.

This study aimed to determine the acute and chronic effects of interval aerobic exercise on hepcidin, ferritin, and liver enzymes in adolescents with beta-thalassemia major. Twenty-six beta-thalassemia major adolescents referred to the Thalassemia Clinic and Research Center were selected as study participants and randomly divided into control (n = 13) and training (n = 13) groups. Participants performed 3 sessions per week for 45minutes in each session for 8 weeks of aerobic interval exercise with an intensity of 50% to 65% of the heart rate reserve. Blood samples were taken before, immediately after the exercise session, and 48hours after the last training session, and liver enzymes aspartate aminotransferase, alanine aminotransferase (ALT), alkaline phosphatase (ALP), ferritin, and hepcidin were evaluated. The results showed a decrease in aspartate aminotransferase, ALT, ALP, ferritin, and hepcidin levels due to 8 weeks of aerobic interval training (P = .14, P = .97, P = .03, P < .001, P < .001; respectively). Intergroup changes in all variables except ALT and hepcidin were significant (P < .05). Besides, acute aerobic exercise increased levels of aspartate aminotransferase, ALT, ferritin, and hepcidin (P = .04, P = .52, P < .001, P < .001; respectively), whereas ALP levels decreased (P < .001). In addition, changes in ALP and hepcidin levels were significant between the 2 groups (P = .05, P < .001; respectively). Based on the study's results, it can be concluded that 8 weeks of aerobic interval training can decrease ferritin and hepcidin levels, but acute aerobic exercise increases them.

A Study to Assess the Level of Stress among Care Givers of Thalassemia Attending Thalassemia Clinics of H.S.K Hospital and Research Centre, Bagalkot

Background: Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world. This condition causes both males and females to inherit the relevant gene mutations equally because it follows an autosomal pattern of inheritance with no preference for gender. Approximately 5% of the worldwide population has a variation in the alpha or beta part of the hemoglobin molecule, although not all of these are symptomatic and some are known as silent carriers.1 Objective: Find the level of stress among care givers of Thalassemia attending Thalassemia clinics. Methods: Descriptive survey research design has been adopted with the sample of 50 care givers of thalassemia attending Thalassemia clinics of H.S.K Hospital and Research Centre, Bagalkot. Data were collected using self report method and Hospital’s records. Tools used for data collection were; socio-demographic questionnaire, The Perceived Stress Scale (PSS) to assess the stress among care givers of thalassemia. Results: Findings related to assessment of level of stress among care givers of thalassemia shows that, highest percent 66 % of care givers were mild stressed, 34 percent of them were have moderate stress. There is a significant association was found between level of stress and sex of care givers (ᵪ2=0.0254; P&lt;0.05).And no significant association was found between level of stress among care givers of thalassemia and their other socio demographic variables. Conclusion: The overall findings of the study revealed that, care givers thalassemia was had mild and moderate level of stress. There is a significant association was found between level of stress and sex of care givers.

Assessment of quality of life and its predictors in thalassemic children

Background: In India, approximately 10,000 children are being born with thalassemia per year contributing to 10% of the total world incidence of thalassemia affected children. With the advancement in medical therapy resulting in early diagnosis and initiation of blood transfusion at an early age, and management of complications, survival rates have improved and such child can survive till second and third decades. Methods: This study was conducted among 100 children in the age range of 2 to 14 years registered with the Thalassemia clinic, department of paediatrics, Gandhi Medical College and associated Kamla Nehru hospital, Bhopal. All patients underwent routine investigation and other relevant investigations as required. To assess the quality of life of children with thalassemia, pediatric quality of life inventory (PedsQL4) scale was used. Results: Mean age of children belonging to the age range of less than 4 years- 38±11.38 months whereas that of children in the age range of 5-7 years and 8 to 12 years was 71.08±8.93 month’s and120.32±23.44 (95%CI 112.51-128.12) months respectively. The emotional domain of quality of life was significantly associated with compliance to chelation therapy among children in the age range of less than 4 and 8 to 12 years. Conclusions: Thalassemia significantly affects negatively on the quality of life of all individuals irrespective of the age of the child. Though, all the domains i.e. physical, emotional, school and social are affected in these patients, physical and school domain are most commonly affected.

Diagnostic Value of T1 Mapping in Detecting Iron Overload in Indian Patients with Thalassemia Major: A Comparison with T2* Mapping.

Purpose T2* is the gold standard for iron quantification in liver as well as myocardium. In this study, we evaluated the diagnostic accuracy of myocardial T1 mapping for the assessment of myocardial iron overload (MIO) as compared to the T2* mapping in patients with thalassemia major (TM). Methods Consecutive TM patients attending the thalassemia clinic were prospectively enrolled. Magnetic resonance imaging was performed on a 1.5 T scanner (Siemens Healthineers, Germany) using a gradient echo T2* as well as a T1 mapping (MOLLI) sequence done at a mid-ventricular short-axis single 8 mm slice of the left ventricle. Values were analyzed by manually drawing a region of interest in the mid-septum. T2*less than 20ms was used as the cutoff for significant MIO. Results One-hundred three patients (58 males, mean age: 17 ± 7.8 years, mean ferritin: 2009.5 µg/L) underwent cardiovascular magnetic resonance. Median T2* of myocardium was 33.45ms. Nineteen patients (18.4%) had T2*less than 20ms. T1 value was low (<850ms) in all the patients with T2* less than 20 ms. Receiver operating characteristic curve analysis revealed the best cutoff of native T1 mapping value as 850 ms which had high specificity (95.2%), sensitivity (94.2%) and negative predictive value (98.8%) for T2* less than 20ms. There was excellent agreement between T1 and T2* for diagnosis of MIO (Kappa-0.848, p <0.001). We did not find any patient who had normal T1 mapping values but had MIO on T2*. Conclusion T1 and T2* correlate well and normal T1 values may rule out presence of MIO. T1 mapping can act as additional imaging marker for MIO and may be helpful in centers with nonavailability or limited experience of T2*.

Prevalence of Acute Complications of Transfusion in Children with β-thalassemia Major in Southeast Iran: A Prospective Study

Background: Acute complications of transfusion are among the leading causes of morbidity and mortality in chronically transfused patients. One of the main goals of blood transfusion is to reduce complications and improve blood safety and patient health care worldwide. The present study aimed to investigate the prevalence of acute complications of transfusion beta-thalassemia major (TM) patients in Southeast Iran. Methods: In a prospective study, 23882 transfusions were evaluated in TM patients of a thalassemia clinic for acute reactions during a two-year period. Data were collected by forms to record the information related to blood transfusion at the time of reaction occurrence. Results: The assessment of the data revealed that 228 TM patients (0.95%) had acute complications of transfusion. Among 23882 TM patients undergoing transfusion, 211 (0.87%) developed allergic reactions, 11 (0.04%) were diagnosed with febrile non-hemolytic reaction, and one patient (0.004%) had experienced acute hemolytic transfusion reaction. Conclusion: The results of the current study support preventive measures for the reduction of these complications to improve patients’ health. Acute complications occurred may be due to insufficient ability to perform blood bank tests, lack of standard operating instructions, and lack of necessary monitoring during the transfusion process. The best way to reduce the risk of blood transfusion reactions is to provide special care to the patients during the first 24 hours after transfusion. Creating a consistent and continuous education system with standard operating instructions and establishing an error reporting system leads to improve knowledge about transfusion guidelines and best practices.

Risk and protective factors for resilience among adolescents and young adults with beta-thalassemia major

BackgroundResilience is the ability to overcome adversity in response to a potentially traumatic event. It can relieve people’s discomfort and build personal capacity when facing a stressful situation such as beta thalassemia major. Resilience is a complex and multidimensional concept and is influenced by protective and risk factors. Therefore, the aims of the present study were to (1) investigate the relationship between protective (social support and hope) and risk (uncertainty and defensive coping) factors with resilience and (2) examine the mediating role of courageous coping between these protective and risk factors in resilience.MethodsThis descriptive-analytical study was performed on 312 adolescents and young adults with beta-thalassemia major aged 12–24 years; they were selected using purposeful sampling from two different outpatient thalassemia clinics in the south of Iran. Data were collected in a face-to-face survey using Zimmet Multidimensional Scale of Perceived Social Support, Herth Hope, Stewart Uncertainty in Illness scale, Jalowiec Coping, and Connor–Davidson resilience Scale from April 2022 to November 2022. The collected data were analyzed using descriptive tests, Pearson correlation, and a structural equation model.ResultsAccording to the main findings of mediation analysis, courageous coping partially mediated the relationship between social support and resilience [(β = 0.042; 95% BC CI (0.003, 0.131)] and fully mediated the relationship between hope and resilience [(β = 0.166; 95% BC CI (0.031, 0.348)]. In other cases, uncertainty and defensive coping had a direct and indirect effect on resilience, respectively.ConclusionBased on these results, health professionals and healthcare policymakers should consider this mediator in developing programs to improve resilience. Also, the use of courageous coping could modulate the effect of defensive coping on resilience. Therefore, teaching the use of courageous coping can play an important role in improving resilience.

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran

Beta Thalassemia is the most prevalent and well-studied single gene disorder in Iran. Here, we investigated the spectrum of HBB gene mutations, identified among 2315 patients, referred to a reference thalassemia clinic in Tehran, on the basis of suspicion to thalassemia major or intermedia. The patients were homozygous or compound heterozygous for HBB mutations, and were referred from various Iranian provinces, during 15 years (2001- 2016). The HBB mutations were classified based on their frequency, and the result was compared to a meta-analysis of 14,293 beta thalassemia cases in the Iranian population, within the same time period. The mutation spectrum in this study contained 43 HBB mutations, compared to the 90, presented by the meta-analysis. Similar to the meta-analysis, IVSII-1 (G > A) and IVSI-5 (G > C) were the most common mutations in this study. These two comprised 62.40% of the total HBB mutant alleles in the studied population, comparable to 51.92% of that in the meta-analysis. IVSII-1 (G > A) and IVSI-5 (G > C), followed by 17 other mutations that had frequencies ranging from 0.15% to 5.44%, were among the 20 common HBB mutations in Iran and neighboring countries, according to the meta-analysis. This study provided further evidence to support the spectrum of the most common HBB mutations in the Iranian population.

STATUS OF THYROID FUNCTION AND SERUM FERRITIN IN CHILDREN WITH TRANSFUSION DEPENDENT AND NON-TRANSFUSION DEPENDENT THALASSEMIA: AN OBSERVATIONAL STUDY FROM EASTERN INDIA

Objective: The objective of this study was to nd the prevalence of thyroid dysfunction in transfusion-dependent thalassemia (TDT) and nontransfusion dependent thalassemia (NTDT) children, and to nd the correlation between serum ferritin levels with thyroid functions. Methods: This cross-sectional study was conducted in the department of Pediatrics and Thalassemia clinic of a tertiary care teaching institute in Kolkata, India. A total of 63 children were included in our study who satised the clinical and diagnostic criteria of TDT and NTDT and fullled the inclusion-exclusion criteria. Laboratory parameters studied were hemoglobin (Hb) %, thyroid-stimulating hormone (TSH), free thyroxin (FT4), and serum ferritin. Results: In our study, 32 (50.8%) were of TDT, and 31(49.2%) were NTDT. E-β thalassemia were detected in 60.3% (n=38) of thalassemic children, 81.58% (n=31) of them behaved as NTDTand 18.42% (n=7) as TDT. Thyroid dysfunction were detected in 28.57% (n=18) of total cases. Most of these, 25.40% (n=16) as subclinical hypothyroidism, and 3.17% (n=2) as overt hypothyroidism. Among TDT patients with mean age of 81.00 (± 33.0) months had subclinical thyroid dysfunction in 37.5% (n=12) . Among NTDTs with mean age of 85.62 (± 27.75) months had subclinical hypothyroidism in 12.9% (n=4). Overt hypothyroidism were detected in 1 (one) of each TDT and NTDT. Signicant correlation with the serum ferritin level and thyroid dysfunction could not be established. Conclusion: Thalassemic children should undergo screening of thyroid functions to detect subclinical hypothyroidism from school going age in addition to routine monitoring of serum ferritin level.

Barriers to adherence to iron chelation therapy among adolescent with transfusion dependent thalassemia.

Study backgroundThalassemia is the commonest genetic blood disorder in Malaysia which requires life-long blood transfusions. From a total of 7,984 thalassemia patients in Malaysia, adolescent age group account for the highest number of patients (2,680 patients, 33.57%). In developed countries, the average rate of adherence to long-term treatment among children and adolescents is only 58%. Sub-optimal adherence to iron chelation therapy may impact the outcome and quality of life in these patients. Thus, assessing adherence level and identification of risk factors for non-adherence is essential in optimizing management.ObjectivesTo determine the association between mean serum ferritin level with self-reported level of adherence to iron chelation therapy in transfusion dependent thalassemia (TDT) adolescents in Hospital Tengku Ampuan Afzan (HTAA), Kuantan and Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Cheras; to determine the association between socio-demographic factors and patients’ knowledge on thalassemia and iron chelation therapy with the level of adherence.Materials and methodsThis was a cross-sectional study conducted between 1st March 2019 and 31st March 2020. Data was collected through face-to-face interview by a single interviewer during the thalassemia clinic follow up, with content validated questionnaires. The questionnaires comprised four sections which included socio-demographic data, medication adherence questionnaire, knowledge of disease, and clinical characteristics of the participants.ResultsA total of 70 participants were recruited. Results showed that only 51.4% of participants had good adherence to iron chelation therapy. There was a significant association between monthly household incomes of the family with the level of adherence to iron chelation (p-value 0.006). There was also an association between the mean serum ferritin levels with total Adherence Starts with Knowledge (ASK-12) score (p-value 0.001). However, there was no association between knowledge on thalassemia with the level of adherence.ConclusionAdherence to iron chelation was generally unsatisfactory amongst adolescents with TDT as only 51.4% had good adherence. Low monthly household income of the family may affect adherence to iron chelation therapy in TDT patients. As adherence remains to be an issue amongst adolescent thalassemia patients, management should include regular and objective assessments to address this problem so as to optimize patient outcome.

Contribution Factors on Long- term and Short- term Survival of Thalassemia Major Patients

Introduction: Thalassemia major is an important health problem in Mediterranean countries that causes many psychological and economic problems. This study aimed to evaluate the effective factors on long- and short-term survival of thalassemia major patients using mixture and non-mixture cure survival models based on Generalized Gompertz distribution. The Generalized Gompertz distribution has flexible curve of failure rate that may be appropriate for different situation of survival analysis.&#x0D; Methods: In this retrospective cohort study, medical records of 300 thalassemia major patients referring to Zafar's thalassemia clinic during 1994-2017 in Tehran, Iran were reviewed. Mixture and non-mixture cure survival models based on Gompertz and Generalized Gompertz distributions were performed to estimate the effective factors on long- term and short- term survival of Thalassemia Major Patients. The Akaike Information Criteria (AIC) was used to compare the models. Analysis was performed using SAS software version 9.4.&#x0D; Results: The mean (±SD) survival time was 32.21 (±7.47) years. The censorship rate was 78.30%. In both of the mixture and non-mixture cure models, Generalized Gompertz distribution, as compared to the standard Gompertz had the lower Akaike criteria that was 200.8. Based on this model, iron deposition in liver at mild and moderate levels had a significant effect on the long-term survival of these patients.&#x0D; Conclusion: Based on Akaike Information criteria, considering the Generalized Gompertz mixture cure model has the best fit for the data of thalassemia major disease in which patients are long-term survivors. In order to analyze the survival of patients with thalassemia major, since iron deposition in liver at mild and moderate levels had a significant effect on the long-term survival of these patients; it is recommended to apply a regular iron chelation therapy for extra iron excretion.

Malaysian socio-demographic characteristics, mean haemoglobin levels and BMI distribution of the monthly transfused group (MTG) and non-monthly transfused group (NMTG) thalassemia patients

Background: Thalassemia is a genetic blood disorder characterized by insufficient haemoglobin level due to mutation in the globin chains causing anaemia with iron overload and the most common genetic haemoglobinopathy in Malaysia. They are grouped as transfusion dependent and non-dependent according to their transfusion requirement. The frequency of thalassemia transfusions can be discriminated further into monthly to non-monthly transfusion group. Objective: To analyze the socio-demographic characteristic, haemoglobin levels and BMI distribution after classifying the thalassemia patients according to monthly transfused group (MTG), non-monthly transfused group (NMTG) and comparing to a healthy individual control group. Methods and Materials: This was a prospective cross-sectional study gathering data on socio-demographic characteristic, haemoglobin levels and BMI distribution of patients with MTG and NMTG thalassemia patients from a thalassemia clinic in Ampang Hospital and comparing them to healthy individuals in Faculty of Medicine and Health Sciences, Universiti Putra Malaysia. The study embarked between August to October 2020. Results: Our study clearly shows in adult thalassemia MTG are predominantly in Malay ethnicity and younger in comparison to NMTG. The mean Hb levels of MTG is lower compared to NMTG regardless of the genotype and phenotype characteristics.

Relationship Between Quality of Life and Health Literacy in Patients with Sickle Cell Disease

Background: Disease management approach is an effective means in genetic disorders, such as sickle cell disease (SCD). This disease is a neglected chronic disease of increasing global health importance. In this process, acquiring knowledge and information related to the disease plays a critical role in self-efficacy and self-care. Therefore, one of the determinants of health and criteria for enhanced quality of life is health literacy. Objectives: Therefore, the present study aimed to determine the relationship between the quality of life and health literacy associated with disease management among patients with SCD. Methods: This descriptive-correlational study was conducted on 150 patients with SCD in Ahvaz. These patients have been referred to the thalassemia clinic and the thalassemia ward of Shahid Baghaei-2 Hospital and selected via accessible sampling. The study data were collected using WHOQOL-EREF-26 items and a researcher-made questionnaire about information resources whose reliability and validity were confirmed. Then, the data were entered into the SPSS software and analyzed via descriptive statistics, chi-square, regression, and correlation tests. Results: The mean age of the participants was 27.56 ± 9.14 years. The most important resource for increasing knowledge was the physician in 83.3% of the patients. In addition, they had acquired the highest amount of knowledge about the causes and symptoms of the disease. Moreover, the highest and lowest mean scores of quality of life were related to physical health (50.80 ± 9.94) and (45.23 ± 19.91) social health dimensions, respectively. The results showed statistically significant differences between the place of residence with the dimension of social health (P = 0.037, b = -11.05) and sources of knowledge enhancement with the dimension of social health quality of life (P = 0.010, b = -14.96). Conclusions: Since quality of life is a subjective and multifactorial concept, its effective factors have to be explored. The present study results indicated that the patients were eager to acquire knowledge about their disease. The higher the patients’ knowledge level, the higher their ability in disease management, self-care, and social health dimension of quality of life would be.

Response of Thalidomide in Spleen Size Reduction of Transfusion Dependent Thalassemia

Background: Thalassemia is the most common single gene hereditary disease worldwide. Hb E-β Thalassemia is the commonest severe form of thalassemia in south-east Asia including Bangladesh. The clinical benefit of increased Hb-F in thalassemia treatment is well established which act by decreasing the imbalance between β&amp; non- β chains and the consequent reduction of haemolysis. Recent study showed outstanding results on haemoglobin level and transfusion requirement in thalassemia patients treated with thalidomide. Objectives: Aims of our study is to evaluation of thalidomide in spleen size reduction of transfusion dependent thalassemia. Methods and Materials: In this quasi-experimental study 50 patients &gt;12 years old attended in Thalassemia clinic, Department of Haematology, Dhaka Medical College &amp; Hospital, Dhaka were recorded as study cases. All relevant collected prospectively from patients and recorded in prescribed form (Data collection sheet).After full explanation, informed written consent were taken from the selected patients informing the details of the purpose of the study. Data processed and analyzed with the help of computer programme SPSS (Statistical package for social sciences) win version 25&amp; presented in the form of tables, graphs &amp; chart. Results: In study cases it was found that there were significant increment of Hb, Hematocrit, HbF% and improvement of performance status 6months after thalidomide therapy (mean 6.36 ±0.78 vs 7.49±0.59, 19.89±2.57 vs 25.88±2.47, 23.03±14.61% vs 39.42±13.31% and 2.24±0.43 vs 1.50±0.54; respectively; all p &lt;0.001). It also reveledthat after 6 months of thalidomide therapy there were significant reduction of transfusion requirement, spleen size, nRBC count, Serum LDH, Serum Bilirubin (total) and Serum ferritin (100.06±27.2 vs 54.48±18.34 ml/kg/year, 12.3±6.73 vs 9.28±5.26 cm, 42.28±61.02 vs 16.96±30.14nRBC/100 WBC, 502.60±124.54 vs 413.28±152.43 U/L, 3.00±1.36 vs 2.12±0.78 mg/dl, 2235.3±2225.6 vs 1574.9±1540.7; .......

Response of Thalidomide in Hemoglobin Increment of Transfusion Dependent Thalassemia

Background: Thalassemia is the most common single gene hereditary disease worldwide. Hb E-β Thalassemia is the commonest severe form of thalassemia in south-east Asia including Bangladesh. The clinical benefit of increased Hb-F in thalassemia treatment is well established which act by decreasing the imbalance between α &amp; non α chains and the consequent reduction of haemolysis. Recent study showed outstanding results on haemoglobin level and transfusion requirement in thalassemia patients treated with thalidomide. Objective: Aims of our study is evaluate the response of thalidomide in hemoglobin increment of transfusion dependent thalassemia. Method: In this quasi-experimental study 50 patients &gt;12 years old attended in Thalassemia clinic, Department of Haematology, Dhaka Medical College &amp; Hospital, Dhaka were recorded as study cases. All relevant collected prospectively from patients and recorded in prescribed form (Data collection sheet). After full explanation, informed written consent was taken from the selected patients informing the details of the purpose of the study. Data processed and analyzed with the help of computer programme SPSS (Statistical package for social sciences) win version 25 &amp; presented in the form of tables, graphs &amp; chart. Result: In study cases it was found that there was significant increment of Hb, Hematocrit, HbF% and improvement of performance status 6months after thalidomide therapy (mean 6.36 ±0.78 vs 7.49±0.59, 19.89±2.57 vs 25.88±2.47, 23.03±14.61% vs 39.42±13.31% and 2.24±0.43 vs 1.50±0.54; respectively; all p &lt;0.001). It also reveled that after 6 months of thalidomide therapy there were significant reduction of transfusion requirement, spleen size, nRBC count, Serum LDH, Serum Bilirubin (total) and Serum ferritin (100.06±27.2 vs 54.48±18.34 ml/kg/year, 12.3±6.73 vs 9.28±5.26 cm, 42.28±61.02 vs 16.96±30.14 nRBC/100 WBC, 502.60±124.54 vs 413.28±152.43 U/L, 3.00±1.36 vs 2.12±0.78 mg/dl, 2235.3±2225.6 vs 1574.9±1540.7; ...............

GDF-15 is associated with atherosclerosis in adults with transfusion-dependent beta-thalassemia.

Objectives: To study serum growth differentiation factor‐15 (GDF‐15) serum level in β‐thalassemia patients and its relation to carotid intima‐media thickness.Background: Thalassemia is a common genetic disease resulting in decreased beta‐chains, leading to manifested anemia. It may be subsequently complicated by iron overload, which induces numerous morbidities and even death. Growth differentiation factor‐15 (GDF‐15) is a strong and independent predictor of mortality and disease progression in patients with atherosclerosis alongside with carotid‐intimal media thickness (CIMT).Patients and methods: This monocentric case‐control study was done on 90 subjects in the period from January 2020 to March 2021. Sixty transfusion‐dependent beta‐thalassemia (TDβT) cases (≥18 years) were selected from the thalassemia clinic of Hematology division at Menoufia University hospitals. We included also 30 sex and age matched healthy as the controls. Routine investigations were done beside. Serum GDF‐15 was measured by ELISA. CIMT was measured by Doppler Ultrasonography.Results: CIMT on both sides was statistically significant higher in cases (median of 0.08 cm) than in the controls (median of 0.04). GDF‐15 was also significantly higher in cases (median of 1839.89 pg/dl) than in controls (median of 256.14 pg/dl). So, we found that GDF‐15 is a predictor of and associated with atherosclerosis in thalassemic adults (OR = 39.198, p value 0.008, 95% CI: 2.576–596.5).Conclusion: GDF‐ 15 is increased in TDβT. CIMT (as a marker of subclinical atherosclerosis) is increased in these patients alongside with GDF‐15, is a predictor, and associated with atherosclerosis in thalassemic adults.

Coping styles in parents of children with Thalassemia in West Bengal

Background: Thalassemia is stress inducing, and the parents of the affected child develop a variety of coping strategies in response to that stress. Objective: The objective of this study was to find coping styles adopted by parents of thalassemic children and to identify factors associated with their coping. Materials and Methods: This cross-sectional survey was conducted in 2016–2017 involving 96 randomly selected parents of thalassemic children attending the Thalassemia Clinic of Bankura Sammilani Medical College and Hospital. Data were collected via interview using predesigned questionnaire and Brief-COPE inventory. Analyses were done estimating mean and proportion and using Pearson correlation coefficient (r), unpaired t-test, analysis of variance, and multiple linear regressions. Results: Two third of participants were mothers (66.7%) accompanying thalassemic children. Majority of them were aged within 21–30 years (55.2%), Hindu (84.4%), rural inhabitants (96.9%) and belonged to backward class (60.4%). Majority (72.9%) were from joint family of lower socioeconomic strata (94.8%). The age of thalassemic children was 80.47 ± 42.49 (mean±sd) months. Most of them were male (53.1%). Majority of thalassemic children was born in first birth order (63.0%) and diagnosed before attaining first birthday (71.0%). More than 60% of the participants were using acceptance coping “a lot.” The most commonly used coping strategies were active coping, acceptance, planning, and religion. In multivariable analyses, overall coping was found to increase by 0.331 on every unit decrease of age at diagnosis of thalassemia of children and to decrease by 0.116 unit on every unit increase of age of respondents. Conclusion: Acceptance coping was used effectively rather than behavioral disengagement, which suggests that a positive attitude toward stress is present but needs to be better handled. Counseling and psychotherapy for parents of thalassemic children can be provided through an intervention program.

Difference in Immature Reticulocyte Fraction Percentage between Moderate and Severe Anemia in Transfusion-Dependent Thalassemia

Thalassemia is an inherited genetic disease caused by the disruption in globin chain synthesis. Inefective erythropoiesis in thalassemia leads to moderate to severe anemia, requiring routine blood transfusions. To evaluate erythropoiesis, immature reticulocyte fractions (IRF) can be measured using the hematology analyzer, avoiding the need of invasive bone marrow examination. The purpose of this study was to analyze the differences in the IRF percentage between moderate and severe anemia in transfusion-dependent thalassemia (TDT) patients. This was a cross-sectional comparative observational analytic study conducted at the Pediatric Thalassemia Clinic of Dr. Hasan Sadikin General Hospital Bandung in August–September 2020. The IRF was examined using the fluorescence flowcytometry method with whole blood sample added by EDTA anticoagulant. The statistical analysis used in this study was unpaired t-test and Mann Whitney’s test. Subjects were 93 TDT pediatric patients, consisting of 48 boys (52%) and 45 girls (48%). The majority (72%) of the patients had been diagnosed with thalassemia for more than 5 years with moderate anemia (40%) and severe anemia (60%). The median IRF percentage in moderate anemia was 6.4% (range 0-22.7) while the range in severe anemia was 11.7% (range 4.1–35.8), suggesting a statistically significant difference (p&lt;0.001) in the IRF percentage between moderate and severe anemia in transfusion-dependent thalassemia patients. To conclude, the more severe the anemia experienced by a thalassemia patient is, the higher the percentage of IRF.

Health promotion practices and coping behaviors among caregivers of children suffering from thalassemia major

According to the Global Health Organisation thalassemia is the most prevalent genetic disorder which immensely affect the life of about 100,000 infants in over 60 countries. In India, thalassemia major is also the most prevalent genetic disorder. As indicated by the national statistics report, 22,000 patients of thalassemia major exist in our country. Thalassemia major is a chronic disease which has a long treatment regimen thus putting the affected children and their caregivers through a variety of challenges both physically and mentally. To assess the health promotion practices and coping behaviors among parents/caregivers of children suffering from Thalassemia Major.A descriptive study was conducted in the thalassemia clinic, APC, PGIMER, Chandigarh. Data was collected from 70 parents of thalassemic children with age group of 4 to 17 years on Socio Demographic Profile, clinical profile, Coping Health Inventory of Parents (CHIP) and Health Promotion Practices (HPP). The study showed that 51.9% caregivers of thalassemic children reported that they considered the items enlisted in CHIP to be moderately helpful, 45.2% reported them to be extremely helpful while according to 2.9% of the subjects, they were minimally helpful. All the subjects were in the “always” level of the HPP i.e. caregivers were following health promotion practices. This study also revealed that majority of parents (61%) did not receive any genetic counselling during their first pregnancy. The study concluded the association between major study variables like Health Promotion practices (HPP) and Coping Health Inventory Of Parents (CHIP) analysed by Pearson correlation. The results revealed that there was low positive correlation between HPP and CHIP i.e. +0.078.

Correlation of Transferrin Saturation and Serum Ferritin with Bone Mass Density in Adult Transfusion Dependent Beta-Thalassemia Patients.

BackgroundThe use of regular blood transfusions and iron chelation therapy to treat thalassemia has improved survival and increased the incidence of osteoporosis. Moreover, iron toxicity is one of the contributing factors that reduce bone mass density in adult transfusion-dependent beta-thalassemia patients. Therefore, this study aims to determine the proportion of low bone mass density in adult thalassemia patients and transferrin saturation, as well as serum ferritin, which correlates to the skeletal condition.MethodsThis is a cross-sectional study conducted in Thalassemia and Hematology Medical Oncology Clinics of Cipto Mangunkusumo Hospital in March 2016. The anthropometric data and hemoglobin levels were obtained before transfusion. Subsequently, the average ferritin levels, bone mineral density, and radiographic results were obtained.ResultsThe percentage of adult thalassemia major and intermedia patients with low bone mass density was 68%. Also, there was a weak inverse correlation between bone mass density and transferrin saturation (r = −0.329, p = 0.01), while no correlation was shown between bone mass density and ferritin (r = −0.088, p = 0.504). The transferrin saturation cutoff point value used to distinguish the incidence of low and normal bone density in patients with transfusion-dependent beta-thalassemia was 89.5%. In addition, there was weak correlation between Singh index and bone mass density (r = 0.273, p = 0.038).ConclusionAmong the transfusion-dependent beta-thalassemia patients, 68% had low bone mass density, which inversely correlated to transferrin saturation. Furthermore, the cutoff value of transferrin saturation to differentiate the incidence of low and normal bone density in thalassemia major compared to thalassemia intermedia was 89.5%. Singh Index correlates weakly with bone mass density and might be used to detect low bone mass density in remote healthcare facilities.