Thalassemic Children Research Articles

Family Empowerment Program to Improve Quality of Life in Thalassemia Patient: A Case Study

Introduction: Thalassemia can cause major health problems in children and adversely affect their quality of life, which includes reduced physical, psychological, social, and educational functioning. A family empowerment program is a process or effort to increase the knowledge and willingness of families to maintain and improve the Quality Of Life of children with thalassemia Objective: The purpose of this case study is to carry out nursing care for children with thalassemia and quality of life problems with the Family Empowerment Program (FEP) approach. Method: The method used is descriptive-qualitative with a case study approach. As well as pre-test intervention and post-test intervention. Nursing care was carried out with the author for three days and the family intervened using the Family Empowerment Program (FEP) approach for three weeks. The subject of this case study is a thalassemia child with poor quality of life. Data collection techniques include interviews, observation, physical examination, and documentation. Results: The results of the case study at the assessment stage found that An.S. had problems in the dimensions of social function and school function due to complex or long-term treatment or treatment programs and unsatisfactory interpersonal interactions. Intervention and implementation used in An.S. are using family empowerment with the Family Empowerment Program (FEP) approach. Conclusion: The conclusion of nursing care in children with thalassemia was that during the intervention of three meetings, there were few changes that were positive for the family and the client in handling social function and school function. After the intervention of the Family Empowerment Program (FEP) approach for three weeks, the results of filling out the PedsQL questionnaire show that the dimensions of physical function are good (90.6), the dimensions of emotional function are good (95), the dimensions of social function are good (80) and the dimensions of school function are good (85).

The Efficacy and Safety of Sofosbuvir and Daclatasvir Treatment in Children and Adolescents With Thalassemia and Hepatitis C Virus Infection

Thalassemia patients are susceptible to hepatitis C virus (HCV) infection due to blood transfusions. Currently, data on treating HCV in thalassemic children with direct-acting antivirals is lacking. This study was performed to determine the efficacy and safety of sofosbuvir-daclatasvir combination therapy in thalassemic children and adolescents. A nonrandomized, open-label, interventional study was carried out in a tertiary care hospital. Consecutive noncirrhotic treatment-naïve thalassemic patients with HCV infection with viremia, within the age group of 6-18 years, were treated with the combination of sofosbuvir-daclatasvir: 200mg+30mg for age 6-11 years (Group A) and 400mg+60mg for age 12-18 years (Group B). The primary endpoint was sustained virological response at 12 weeks (SVR12). A total of 70 patients (Group A 45, 64% male; Group B 25, 40% male) were recruited. The mean age was 8.5 years and 13.9 years in the two groups. Mean HCV Ribonucleic acid (RNA) levels in Groups A and B were 446906.1 IU/ml and 256187.8 IU/ml, respectively. SVR12 was achieved in 43 of 45 (95.5%) patients on an intention-to-treat basis and 43 of 44 (97.7%) patients on a perprotocol basis in Group A, and all patients in Group B (100%). In both groups, there was a significant improvement in biochemical parameters. Among the two patientswho did not achieve SVR12 in Group A, one required termination of therapy due to urticaria. Sofosbuvir-daclatasvir based treatment in noncirrhotic, treatment-naive thalassemic children and adolescents infected with HCV is effective and safe.

Hubungan Antara Tingkat Pendidikan dan Pengetahuan Orangtua dengan Kualitas Hidup Anak Talasemia Mayor di RSUD Dr. M. Yunus Bengkulu Tahun 2017

One of the problem in thalassemia children is poor quality of life. It is assessed through 4 functions, namely physical, emotional, social, and school functions. Many factors affect the quality of life in thalassemia patients. This study is aimed to know the relationship between educational level and knowledge of parents, with the quality of life in thalassemia children. A cross-sectional study with 54 subjects with thalassemia and 54 pairs of parents. Subjects who met the inclusion criteria and did not meet the exclusion criteria were taken by the consecutive sampling method. Data collection technique was done by conducting interviews based on characteristic data questionnaires, parental knowledge questionnaires, and quality of life questionnaires using PedsQL 4.0 Core Scales. We analised the data by Spearman correlation test and Pearson correlation test. Maternal’s educational level has a significant correlation to the quality of life in children with thalassemia with moderate correlation strength on spearman test (r = 0,410; p = 0,002). Father’s educational level has a significant correlation to the quality of life in the children with thalassemia with a weak correlation strength (r = 0.359; p = 0.008) on the spearman test. Maternal’s level of knowledge have significant correlation to the quality of life in children with thalassemia with medium correlation strength (r = 0,404; p = 0,002) on spearman test. Father’s level of knowledge have significant correlation to quality of life in children with thalassemia with weak correlation strength (r = 0,335; p = 0,013) on the spearman test. Multivariate test found that most factors affecting the quality of life of children with thalassemia is the level of knowledge of mothers with p = 0.014 and OR = 1.179. There is a significant correlation between the level of education and knowledge of parents on the quality of life of major thalassemia children.

Grape seed extract in combination with deferasirox ameliorates iron overload, oxidative stress, inflammation, and liver dysfunction in beta thalassemia children

Background and purposeIron overload in the body is associated with serious and irreversible tissue damage. This study aimed to investigate the iron‐chelating, antioxidant, anti-inflammatory, and hepatoprotective activities of grape seed extract (GSE) supplement as well as its safety in β‐thalassemia major (β‐TM) pediatric patients receiving deferasirox as a standard iron‐chelation therapy. Materials and methodsThe children were randomly allocated to either GSE group (n = 30) or control group (n = 30) to receive GSE (100 mg/day) or placebo capsules, respectively, for 4 weeks. The serum levels of iron, ferritin, total iron-binding capacity (TIBC), alanine transaminase (ALT), aspartate aminotransferase (AST), tumor necrosis factor alpha (TNF-α), high-sensitivity C-reactive protein (hs-CRP), malondialdehyde (MDA), and glutathione (GSH) as well as superoxide dismutase (SOD) activity and hemoglobin (Hb) concentration were measured pre-and post-intervention. ResultsGSE supplement significantly attenuated the serum levels of iron (p = 0.030), ferritin (p = 0.017), ALT (p = 0.000), AST (p = 0.000), TNF-α (p = 0.000), and hs-CRP (p = 0.001). The TIBC level (p = 0.020) significantly enhanced in the GSE group compared with the placebo group. Moreover, GSE supplement remarkably improved the oxidative stress markers, MDA (p = 0.000) and GSH (p = 0.001). The changes in the SOD activity (p = 0.590) and Hb concentration (p = 0.670) were not statistically different between the groups. ConclusionGSE supplement possesses several health beneficial influences on children with β‐TM by alleviating iron burden, oxidative stress, inflammation, and liver dysfunction.

Coagulation Abnormalities in Pediatric Patients with β-Thalassemia, An experience at a Tertiary Care Hospital

Life expectancy in thalassemia has markedly improved due to consistent blood transfer and amenability with iron chelation therapy, therefore this improvement is conditioned with various thromboembolic problems of this prolonged disorder including thromboembolic complaints. Objective: To determine coagulation abnormalities in beta (β) thalassemia major patients who have been multi transfused. Methods: This observational study was conducted at Department of Haematology & Transfusion Medicine, Children hospital & University of Child Health Sciences (CH&UCHS), Lahore, from October 2022 to January 2023. The study included 60 β-thalassemic patient, age less than 16 years whose samples were compared with upper and lower normal value as regards to Prothrombin Time (PT), Active Partial Thromboplastin Time (APTT), Protein S, Protein C, liver enzymes (Alanine Transaminase (ALT), Aspartate Transaminase (AST), Gamma-Glutamyl Transferase (GGT). The data were analyzed using IBM SPSS version 23.0. Results: When values were compared, natural clotting inhibitors (Protein S, Protein C) were remarkably reduced in β-thalassemic paeds patients (p<0.001).PT and APTT were prolonged in thalassemic children (p>0.05 and p<0.05 correspondingly). There was substantial increase in concentrations of ALT and AST in β-thalassemic patients (p < 0.001 and p < 0.001 respectively) due to iron over load by multiple transfusions. Conclusions: Marked changes in coagulation inhibition supporting thrombotic tendency was observed in thalassemic children. There were reduced levels of protein C and protein S, independent of slightly prolonged PT and APTT and elevated levels of ALT, AST with normal GGT in thalassemic children.

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.

Bone mineral density among β–thalassemic children: age and sex comparative study

Background Parathyroid function and bone mineral density (BMD) in β–thalassemia major (β-TM) patients are provided. Some recent suggestions are presented about the cellular and structural changes in thalassemia bones. Aim The current work aims to study BMD and related mineral and hormonal profiles in β-TM cases and its relation to the sex and age strata of the patients. Patients and methods The study includes 30 healthy control and 55 β-TM patients who were divided into subgroups according to age and sex. Parathormone (PTH), ferritin, and calcium were investigated. The dual-energy radiography absorptiometry were used to the assessment of BMD. Results Serum ferritin level was as expected significantly elevated in β-TM cases. Serum PTH was significantly lower in β-TM cases when matched with healthy control. Serum calcium was within normal in β-TM. BMD of lumber spine in β-TM was markedly detracted when matched with the healthy normal group. 76% of our cases showed reduced BMD. Conclusion BMD is reduced in 76% of β-TM. PTH is reduced in all age strata of β-TM.

Al-Hijamah (Prophetic Wet Cupping Therapy) is a Novel Adjuvant Treatment for Viral Hepatitis That Excretes Viral Particles and Excess Ferritin Percutaneously, Synergizes Pharmacotherapy, Enhances Antiviral Immunity and Helps Better HCC Prevention and Treatment: A Novel Evidence-Based Combination with Prophetic Medicine Remedies.

Viral hepatitis progresses to liver cirrhosis and HCC. Several challenges are facing Sovaldi treatment to viral C hepatitis, eg, viral resistance, difficulty to treat all genotypes, and inability to access treatments in low-income countries. Also, current treatments to Hepatitis B are still challenging. Ideal treatments to viral hepatitis should decrease the viral load, enhance antiviral immunity and repair the viruses-induced tissue damage. That is still beyond reach. High serum ferritin in viral hepatitis correlates with chronicity, increased necro-inflammation, hepatotoxicity, progression to cirrhosis, progression to HCC, unresponsiveness to treatments and viremia. Previously, Al-hijamah (wet cupping therapy of prophetic medicine) significantly cleared thalassemic children of causative pathological substances (CPS), eg, excess ferritin, free radicals and serum lipids. Moreover, Al-hijamah significantly increased the antioxidant power and potentiated the natural antiviral immunity, eg, increasing CD4 count, CD8 count and CD4/CD8 ratio. Prophet Muhammad peace be upon him said: "If there is a benenvolence (benefit) in any of your medicines, benefit will be in shrtat mihjam (Al-hijamah), honey drink, and a stinge of fire compatible with disease and I do not like to cauterize". Likewise, the author suggests Al-hijamah as a novel promising adjuvant treatment for viral hepatitis (B and C) for percutaneous excretion of CPS as hepatitis viral particles, excess ferritin, inflammatory mediators, free radicals, and antigen-antibody complexes. Published reports proved that Al-hijamah exerted tissue-protective effects, and cleared blood through the fenestrated skin capillaries in a pressure-dependent and size-dependent manner (a kidney-like manner). That collectively may decrease the viral load for better HCC prevention and supports the evidence-based Taibah theory (Taibah mechanism). Same therapeutic benefits apply to other viral illnesses as AIDS. Even after HCC development, Al-hijamah is quite mandatory for excretion and clearance of CPS that favor malignancy, eg, lactate (Warburg effect), growth factors, metalloproteinases, and others. Al-hijamah-induced immune potentiation benefits HCC patients. Combining Al-hijamah with other natural antioxidant remedies of prophetic medicine, eg, nigella sativa, costus, natural honey, Zamzam water and others will maximize the therapeutic benefits. In conclusion, Al-hijamah and other prophetic medicine remedies are recommended adjuvants to current pharmacological treatments to viral hepatitis and HCC.

Habitual Snoring in Pediatric Thalassemia Disease; Prevalence, Quality of Life and Risk Factors

Objective: To compare the prevalence of HS and quality of life in non-transfusion dependent thalassemia (NTDT) and Transfusion dependent thalassemia (TDT) patients and to identify risk factors associated with HS in pediatric thalassemia. Materials and Methods: We conducted a cross-sectional study of pediatric thalassemic patients aged from 6 months - 18 years between January 2020 and October 2020, at Thammasat University Hospital, Thailand. Results: There were 141 thalassemia patients (35 TDT and 106 NTDT), aged 7 months-18 years, 73 (51.8%) were male. Sixty-eight patients (48.2%) reported snoring; 28 patients (19.9%) had HS; the remaining 40 patients (28.4%) had simple snoring. The prevalence of HS was not significantly different between TDT and NTDT group (6 (17.1%) VS 22 (20.8%); P= 0.527). Quality of life assessed by OSA-18 score was not significant difference between TDT and NTDT groups (51.3 ± 18.8 VS 45.7 ± 11.4; P=0.141). The associating risk factors for the development of HS after multivariate logistic analysis were nasal congestion, and male gender, with an adjusted OR of 5.3 and 3.0, respectively. Conclusion: Prevalence of HS was increased in children with thalassemia. Factors such as nasal congestion and male gender were strongly associated with HS in this population. The quality of life assessment using the OSA-18 questionnaire indicated that thalassemia children generally exhibited a good quality of life. Additionally, our study observed relatively low serum ferritin levels in comparison to previous studies. The standard care provided for TDT patients, includes regular blood transfusion and effective iron chelation, may contribute to slowing down the degree of nasopharyngeal narrowing in thalassemia patients.

Growth profile of children with beta-thalassemia major

Background: Retarded growth in thalassemic patient is complex and multi-factorial, it includes chronic hypoxia secondary to anemia when pre-transfusion haemoglobin is below 9 g/dl. Development of secondary sexual characteristics in thalassemic children is markedly delayed as compared to their non-thalassemic siblings and to the expected development criteria due to chronic hypoxia and iron overload. The main objective of the present study is to monitor the growth of these patients longitudinally Methods: This was a observational, cross sectional field study in Pune, Maharashtra. Result: Patients with beta-thalassemia major on regular blood transfusions have growth failure, deranged liver function and hypocalcaemia in conjunction with high serum ferritin levels Conclusions: Beta thalassemia major, having the potential of leading to multisystemic complications, is a chronic disease that should be treated and followed-up by a multidisciplinary approach.

Evaluation of hepatic fibrosis by transient elastography in βthalassemia children before and after hematopoietic stem cell transplantation

Abstract Background Iron overload is a major concern in all patients with transfusion-dependent thalassemia (TDT). The liver, being a target for iron deposition is at risk of developing liver fibrosis or even cirrhosis. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment in clinical practice, a process that is surrounded by several precautions and complications that may affect the liver condition as well. Aim To evaluate the degree of hepatic fibrosis in children with TDT before and after HSCT. Methodology Twenty-five children with TDT who underwent HSCT were investigated by serum ferritin in addition to the assessment of liver fibrosis using transient elastography by FibroScan and liver fibrosis scores before and 1-year after HSCT. Results Out of the 25 children enrolled, only 16 completed a 1-year post-transplantation follow-up period. Slightly increased liver stiffness values measured by FibroScan 1-year post-transplantation, but the patients were still having the same degree of fibrosis of the pre-transplant period. FIB-4 score and APRI also showed statistically significant increase post-transplant as compared to pre-transplantation. Conclusion Stationary degree of fibrosis in thalassaemic children after HSCT with slight increases in the liver stiffness values by transient elastography that necessitates longer follow-up of the fibrosis status of patients’ post-transplant. Transient elastography is considered a helpful noninvasive tool for assessment of the hepatic status before and after HSCT.

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study

IntroductionIn Pakistan, the reported carrier rate of thalassaemia is estimated to be 5%–8% with 5000 new patients diagnosed every year. Several known systemic complications of beta thalassaemia major have been...

Status Nutrisi dan Hemoglobin Setelah Pemberian Transfusi pada Penderita Thalasemia

More than 5,000 babies are born suffering thalassemia (beta thalassemia major and beta thalassemia Hb E) annually from around the world and 80% of births occur in developing countries (Kantharaj & Chandrashekar, 2018). In Indonesia alone, the frequency of beta thalassemia genes ranges from 3-10% with 2,500 babies born each year and there are 10,531 more patients experiencing thalassemia (Kemenkes, 2019). The general objective of this study was to identify the relationship between nutritional status and changes in hemoglobin levels after transfusion in children with thalassemia at RSD Gunungjati Cirebon. This research method uses descriptive correlation by using a cross sectional. The sample of this research is thalassemia in Gunung Jati Hospital, Cirebon City, totaling 35 respondents using accidental sampling technique. The instrument used is a data and measurement recapitulation sheet. The nutritional status data recapitulation sheet containing components (gender, age, weight, TB) and measurement of Hb before and after blood transfusion using EasyTouch GCHB, as well as data analysis using the Spearman rank, was carried out on July 4-15, 2022. The results of the univariate analysis of the study This is in the category of good nutritional status as many as 18 respondents (51.4%) and an increase in hemoglobin levels of 18 respondents (51.4%) in thalassemia children at Gunungjati Hospital, Cirebon. The results of this study found that there was no relationship between nutritional status and changes in hemoglobin levels in thalassemia children at RSD Gunungjati Cirebon with a value (p = 0.252 > = 0.05).Suggestions for this study are that families and patients should strive to carry out the education provided by nurses and explore more knowledge related to thalassemia, especially nutritional intake.

Psychiatric disorders and caregiver burden in children with transfusion dependent β-thalassaemia and their caregivers

Children with thalassemia need care from the first years of life owing to the physical and psychological effects of their disorder. Thalassemia is a concern not only for the children's physical health but also the mental health of themselves and their caregivers.To screen the psychosocial problems and assessment of psychiatric morbidities among thalassaemic children and their caretakers, along with an assessment of caregiver burden in them.In this observational cross-sectional study, children with transfusion-dependent thalassemia, were included and were assessed for psychiatric morbidity and global functioning. Their parents were assessed for psychiatric morbidity and the caregiver burden they faced. All the parents completed two different questionnaires to assess their knowledge about the psycho-social functioning [using Pediatric Symptom Checklist-35 (PSC-35)] of their children and the level of the burden faced by them by Caregiver Burden Scale (CBS).A total of 46 children (28 boys and 18 girls) with transfusion-dependent thalassemia with a mean age of 8.83 ± 2.70 years and 46 parents (12 fathers and 34 mothers) were included in this study. More than 32 children had some psychosocial problems on screening by PSC-35. On assessment by CBS moderate caregiver burden was perceived in domains of general strain, isolation, disappointment, emotional involvement, and environment. A total of 65.3% of children and 62.7% of parents were diagnosed with psychiatric problems.Thalassemia affects not only the persons with the disorder but also their caregivers in several aspects, including their psychosocial well-being. This study emphasizes the role of a supportive group in the psychological well-being of caregivers, which could be used to prevent the pathological effects of caregiver burden and enhance their psychological well-being through counselling.

Race-neutral equations for assessment of lung function in children with thalassemia.

The aim of this study was to assess pulmonary dysfunction in children with transfusion-dependent thalassemia (TDT) using the Global Lung Function Initiative (GLI) 2022 race-neutral spirometric reference equations and to determine the main predicting factors. The spirometric results of 68 children with TDT were compared to the results of 68 healthy control subjects using both GLI-2012 reference equations for Caucasians and GLI-2022 global equations. Associations between the spirometric data and various anthropometric, clinical, and laboratory parameters were analyzed to detect predictors of pulmonary dysfunction in this group of patients. Children with TDT showed significantly lower values of FVC and FEV1 with a predominance of the restrictive pattern (23.53%). Thalassemic children with the restrictive pattern were significantly older, had a longer duration of regular blood transfusion, lower height, weight, and BMI z-scores, higher average serum ferritin, and higher frequency of having a serum ferritin level >2500 ng/mL. The strongest predictor for having a restrictive spirometric pattern was high serum ferritin. Our analysis shows that the transition from GLI-2012 spirometric reference equations for Caucasians to the GLI-2022 global equations has led to a reduction in the prevalence rate of restrictive pulmonary dysfunction in children with TDT, which should not affect the patient outcome in the long term. Asymptomatic children with TDT exhibited a restrictive spirometric pattern in a significant proportion. The most important predictor was high serum ferritin. We encourage the inclusion of pulmonary function testing in the routine monitoring of patients with TDT, especially in older patients and those with iron overload.

Educational program effects on knowledge, attitude and performance of parents of thalassemia children: A quasi-experimental study

Educational program effects on knowledge, attitude and performance of parents of thalassemia children: A quasi-experimental study

Peningkatan Kualitas Hidup Anak Thalasemia Pada Masa Pandemi Covid-19

Thalassemia is a disorder of hemoglobin synthesis with clinical manifestations of severe anemia. With a total of 35 sufferers in North Lampung, thalassemia causes complex health problems, especially during the Covid-19 Pandemic, including 1. The limited blood supply for transfusions due to decreased donors; 2. The problem of malnutrition leading to reduced immunity; 3. Psychological and school problems; 4. Not all thalassemia children in North Lampung had Hb-analysis as a diagnostic procedure; and 5. Low consumption of iron chelation drugs to prevent hemosiderosis. The community service aims to improve the quality of life for thalassemia children in North Lampung during the Covid-19 Pandemic. The Community service activities used a process approach (preparation, implementation, evaluation) involving several professions and related stakeholders (interprofessional collaboration). The target of the activities was thalassemia children and families who are members of the Association of Parents with Thalassemia (POPTI) North Lampung, with a total of 35 people. Data were analyzed with proportional descriptive analysis. The community service activities were 1. Formation of a Thalassemia Care Community consisting of 75 permanent blood donor volunteers; 2. Health education about the nutritional needs of thalassemia children and provision of nutrition packages to 33 people (94.28%); 3. Counseling on psychosocial problems and learning disorders in schools; 4. Facilitating story books in the treatment room of HM Mayjend Ryacudu Hospital; 5. Laboratory examination of Hb analysis and ferritin levels and socialization of the management of iron chelation treatment to 23 people (65.71%) of thalassemia children and their families. All activities were carried out with health protocols during the Covid-19 Pandemic. Suggestion: It is necessary to develop a network and increase the membership of the Thalassemia Care Community to six permanent donors for one thalassemia child. The Originality/Value/ Implication of this community service activity is the formatting of the North Lampung Thalassemia Care Network and Community.

5613304 ANTENATAL SCREENING FOR HAEMOGLOBINOPATHIES AMONG THE TRIBAL POPULATION IN THE STATE OF TAMIL NADU, INDIA

Background: Hemoglobinopathies especially Sickle cell anemia and Thalassemia is more prevalent in the tribal population living in the hilly areas of Tamilnadu. As a part of the Government initiative for prevention of hemoglobinopathy, National Health Misiion, Tamilnadu State Chapter, has initiated Hemoglobinopathy screening for antenatal mothers in this target population. It was anticipated to have challenges like difiiculites in convincing the families for screening and if required aminocentesis. The study details with results of this screening program conducted over the period of 9 months is being presented. The project is ongoing till date. Aim: To prevent the prospective birth of Thalassemia and Sickle Cell Anemia children in Hemoglobinopathy prevalent tribal population Study Period: From September 2021 to June 2022 Methodology: All Antenatal Mothers attending the Primary health centres (PHC - Government Health Facilities) in 18 tribal blocks were screened for Haemoglobinopathies (Thalassemia & SCA) during the first trimester. 4 ml of blood was taken, 2 ml each in EDTA tubes. Informed consent was obtained before taking blood samples for test. Complete Blood Count was done in the Primary Health Centre. The second sample was transported under cold chain to the nearest medical college on the same day where high performance liquid chromatography (HPLC) was done. The CBC reports of all the mothers screened were shared with the Biochemistry Department where HPLC was done in the Biorad - 10 machine. If the mothers were found to have Thalassemia or Sickle Cell trait, husbands were tested for CBC & HPLC. If the couple was positive they were given genetic counselling regarding amniocentesis at the PHC with online support of specialists including Hematologist, State Blood Diseases Expert, and Genetics Consultant. If the couple give their consent, amniocentesis was done between 16 – 20 weeks at the prenatal diagnostic centre at state Capital, Chennai. Genetic testing was done for the parents and the foetus. This test was outsourced. If the foetus was found to be affected post test counselling was given regarding Medical Termination of Pregnancy (MTP) if they gave consent MTP was done. If the foetus was normal or to have trait, pregnancy was continued. Results: Total Mothers screened - 14016 Antenatal (AN) mothers Prevalence of Hemoglobinopathy Trait/ diseased - 7 % (959) Various types of Hemoglobinopathy trait/ diseased among the screened AN Mothers - Thalassemia trait (40.8%), Sickle cell trait (27.6 %), Sickle Cell Anemia (2%), Borderline thalassemia trait (29.6 %) No of husbands screened 511 out of which 13 % (73) were positive No of Amniocentesis done in 38 antenatal mothers out of which 31.58 % (12) were normal foetus, Trait Foetus 47.37 % (18), affected & MTP done 21.05 % (8) Conclusion: Antenatal Screening & Diagnosis is the best strategy for preventing Haemoglobinopathies which will be cost effective in the long term. It proactively reduces morbidity, mortality, DALY & psychological problems seen in management of affected children & their families. The direct medical cost of treating 1 Thalassemia child weighing 30 kg is around 2500 USD per year along with significant indirect expenses where as the cost of Antenatal Screening & Prenatal Diagnosis is 225 USD. The challenges met in implementing the program including difiiculty in taking the husband’s sample and counseling the couple with affected fetus are addressed. Reference 1. S Chakravorty, MC Dick. Antenatal Screening for Heamoglobinopathies; current status, barriers and ethics. Br J Haematol 2019; 187(4):431-440. doi: 10.1111/bjh.16188. Epub 2019 Sep 11.

Thalassemia prevention: Religious and cultural barriers to premarital screening in Bangladesh.

Thalassemia prevention: Religious and cultural barriers to premarital screening in Bangladesh.

An Epidemiological Study of the Quality of Life of Children With Beta-Thalassemia Major (β-TM) and Its Correlates in Kolkata, West Bengal, India.

Background and objectives In contrast to their peers who are healthy, children with thalassemia disease are likely to have a lower quality of life (QoL). Knowledge of attributes affecting the QoL of thalassemic children may help identify key areas of intervention to improve it. Thus, the current study was envisioned to find out the quality of life (QoL) of children with beta-thalassemia major (β-TM) and its various correlates. Methods Between May 2016 and April 2017, an institution-based cross-sectional observational study was conducted in the thalassemia unit of Calcutta National Medical College and Hospital (CNMC&H), Kolkata, West Bengal, India. During the study period, 328 β-TM children and their carers were interviewed using a structured schedule. Results In the final multivariable logistic regression model, thalassemic children who were residing in an urban area (adjusted odds ratio (AOR) (95% confidence interval (CI)): 2.1 (1.1-4.0)), had mothers with a higher educational level (middle and above) (AOR (95%CI): 2.1 (1.1-4.0)), had working parents (AOR (95%CI): 2.7 (1.2-6.3)), had no family history of thalassemia (AOR (95%CI): 3.5 (1.6-8.0)), received less number of blood transfusion in the previous year (<12) (AOR (95%CI): 2.1(1.1-4.2)), had higher pre-transfusional hemoglobin (Hb) level (AOR (95%CI): 1.7(1.1-2.6)), had no transfusion-transmitted infections (TTIs) (AOR (95%CI): 2.8 (1.5-5.2)), had higher body mass index (BMI) Z score (AOR (95%CI): 1.6 (1.1-2.2)), and had higher Carer Quality of Life (CarerQoL) score (>5) (AOR (95%CI): 3.2 (1.6-6.2)) were more likely to have favorable QoL (Pediatric Quality of Life Inventory (PedsQL) score > 54.3). Interpretation and conclusions The QoL of the study participants was significantly correlated with their carers' CarerQoL, mother's educational level, parent's working status, place of residence, family history of the disease, blood transfusion frequency, pre-transfusional Hb level, and nutritional and comorbidity status.