Thalassemic Child Research Articles

“The Parental Perspective of Thalassemia in Bangladesh: Challenges for Prevention and Management of Thalassemia”

Introduction: Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, poses significant challenges for families worldwide. In Bangladesh, where the prevalence of thalassemia is notable, parents face unique hurdles in both preventing and managing this condition. Aim of the study: The aim of this study is to explore the parental perspective of thalassemia in Bangladesh, focusing on the challenges faced in the prevention and management of the disease. Methods: This was a cross section retrospective study conducted in the Department of Paediatrics of M Abdur Rahim Medical College, Dinajpur, Bangladesh during the period from June 2023 to December 2023. Result: Among the total of 320 caregivers, 46.9% were father, while 53.1% were mother respectively. Minority 14.1% of marriages were consanguineous, while the majority (85.9%) was not. The majority (82.8%) of respondents had one thalassemic child, while 17.2% had two or more thalassemic children. Before the diagnosis of thalassemia in their child, 90.9% of respondents had not heard about thalassemia. All respondents (100%) reported not undergoing thalassemia screening before marriage. The median age at diagnosis of thalassemia among the participants was 1.32 years. Beta thalassemia was diagnosed in 30.6% of the participants, while 68.8% had E-beta thalassemia. The majority 65.9% of respondents correctly identified thalassemia as a genetic disease, while 22.5% provided an incorrect response. Conclusion: Thalassemia presents significant challenges for affected individuals and their families in Bangladesh, ranging from limited access to diagnostic services and blood transfusions to social stigma and financial burdens.

5573836 CLINICOHEMATOLOGICAL CHARACTERISTICS OF IRON DEFICIENCY ANEMIA AND HEMOGLOBINOPATHIES IN PAKISTAN;AN EXPERIENCE OF NON HOSPITAL BASED LABORATORY

Clinicohematological and frequency of IDA and hemoglobinopathies in Pakistan; an experience of non hospital based laboratory Aisha Arshad *,Nadia Farhan,Farhan Essa Abdullah. Dr.Essa Laboratory and diagnostic centre,Karachi,Pakistan Introduction: Thalassemia is a genetic disease which has autosomal recessive pattern of inheritance. The disease is result of consanguineous marriages. A huge number of such marriages still persist in Pakistan due to sociocultural issues. Therefore, the study was planned to observe the frequency and detail clinicohematological characteristics in iron deficiency anemia and in patients with hemoglobinopathies. Materials and methods: This was observational and cross sectional study conducted during the period of September 2019 to February 2020 at Dr.Essa Laboratory and diagnostic centre. A total of 462 participants were included. An ethical approval of study was taken from organization and informed consent was taken from all those patients who participated in the study. Complete blood picture (CBC) was performed using XP-100.and Hb Electrophoresis was done using Genio S machine. All parameters were calculated as mean and standard deviation using MS excel. Results: A total of 462 participants were enrolled in the study. Lethargy and weakness were observed in 365(79%) patients followed by fever in 75(16.2%) patients. Iron deficiency anemia was more common in patients 352(76.1%) followed by thalassemia minor 88(10.04%), thalassemia major 14(3.03%), HbD disease 06(1.29%) and HbE disease 02(0.76%) A total of The mean age of patients was 22.41±9.89. Females were higher in number as 312(%) and males were 150(%). The mean Hb was 9.94±4.94g/dl, MCV 76.6±7.07fl, MCH 22.19±5.65pg, MCHC 30.10±4.94g/dl, TLC 9.98±2.12*10^3/ul, Neutrophils 51.6±5.0%, lymphocytes 42.8±3.8% and platelets counts were 360±48.7*10^3/ul. The mean HbA levels were 94.1±63.6%, HbF 1.56±0.2 and HbA2 3.1±0.3%. Conclusion: Although Thalassemia is a genetic disease but higher frequency was found in our population with IDA and thalassemia minor. Proper screening must be done before marriages for thalassemia minor in order to avoid a thalassemic child. Iron deficiency anemia is subjected to severe malnutrition in our state and proper diet iron is required to avoid it. However, this study has been done on small number of sample size and requires the same with larger number of sample size across the country. Reference 1. Tahir Sultan Shamsi, Saqib Hussain Ansari, Zeeshan Hussain. (2018) An Insight into the Symptomatology of β-Thalassaemia Major: Molecular Genetic Basis of the Disease – III. National Journal of Health Sciences 3:1, pages 1-2.

Reversible Cerebral Vasoconstriction Syndrome with Intracerebral Hemorrhage in a Thalassemic Child—An Extremely Rare Complication

AbstractA 6-year-old known thalassemic boy presented with a posttransfusional thunderclap headache. A computed tomography scan showed left occipital lobar bleed and magnetic resonance angiography showed diffuse cerebral vasoconstriction, which resolved after 3 months, suggesting reversible cerebral vasoconstriction syndrome. He was treated with oral nimodipine for 3 months and had an excellent recovery without sequelae. To the best of the authors' knowledge, the index case is the first reported case of reversible cerebral vasoconstriction syndrome in a thalassemic child.

Mental Stress of Parents Having Thalassemic Children

Background: Thalassaemia is an emerging global public health concern. It is considering as a rapidly growing major health burden for low- and middle income countries. The prevalence of thalassaemia is increasing in Bangladesh, indicates that thalassemia will be an emerging health burden for our country. Objective: To assess the level of mental stress among parents with a thalassemic child. Materials and Methods: A cross-sectional study was conducted among the 141 parents with a thalassemic child in the purposively selected two hospitals’ Dhaka Shishu Hospital and Bangladesh Thalassemia Hospital in Dhaka. ‘Parental stress scale’ (PSS) was used to measure the level of stress. Results: The mean age of the parents was 36.2±8.8 years and nearly two-thirds (63.8%) of them were aged below 40 years. Almost half of the participants (49.6%) and their spouses (59.6%) completed their education upto the higher secondary level. The mean monthly family income was 27,113.5±46,696.9 taka. More than half of the parent’s (53.2%) had low level of mental stress. The education, occupation, monthly family income, presence of >1 thalassaemic child in family, received blood from a voluntary blood donor, normal growth of thalassaemic child and history of thalassaemic child death were significantly associated with the level of mental stress by PSS scores of the parents (p<0.05). The level of stress was low among the parents, whose educational level was up to primary level (68.6%), occupation as a business (68.4%), monthly family income ≥50,001 taka (85.7%), presence of >1 beta thalassaemia major child (47.6%), received blood from a voluntary blood donor (50.0%), had a history of normal growth of thalassaemic child (60.4%) and had no history of thalassaemic child death (50.0%). Conclusion: Existence of the children with thalassemia in a family cause massive stress and anxiety for parents. Psychological supports for them are essential as a part of comprehensive medical care along with clinical management of the thalassemic child. The burden of disease can be reduced through effective preventive approaches, such as carrier screening, prenatal counseling and diagnosis. KYAMC Journal Vol. 13, No. 02, July 2022: 102-107

Pediatric thalassemic patients have higher incidence of asthma: A nationwide population-based retrospective cohort study.

IntroductionPatients with hemoglobinopathies have been reported to have higher rates of pulmonary complications. Few studies have investigated the association between thalassemia and asthma in children.MethodsWe used the data of one million individuals randomly selected from the Registry for Beneficiaries of the National Health Insurance Research Database. One thalassemic child was matched with four control children without thalassemia according to sex, birth year, birth season, prematurity, and previous enteroviral infection.ResultsA total of 800 hundred thalassemic children and 3200 controls were included. Children with thalassemia had higher rates of developing asthma (41.81 vs 25.70 per 1000 person-years, P < 0.001) than the non-thalassemia controls with an adjusted hazard ratio of 1.37 (95% confidence interval [CI] = 1.19–1.58). Boys in the thalassemia cohort had a significantly higher adjusted incidence hazard ratio (IRR) of asthma than those in the non-thalassemia cohort (adjusted IRR = 1.45, 95% CI = 1.02–1.73). The risk of atopic and nonatopic asthma was higher in the thalassemia cohort than in the non-thalassemia cohort (IRR = 1.3, 1.61, respectively).ConclusionsChildren with thalassemia were more likely to develop asthma. More attention should be paid to the early diagnosis of asthma and prevention of asthma attacks.

A Qualitative Study Exploring the Experiences of Mothers Caring for Their Children with Thalassemia in Iran.

Mothers of children with thalassemia usually experience many sufferings and challenges in caring of their children. The present study aimed to explore the experiences of mothers caring for their children with thalassemia. In this qualitative study, 14 mothers caring for their children with thalassemia in Hamedan and Babol Cities, Iran were selected using purposeful sampling, from December 2019 to August 2020. Data were collected through semi-structured face-to-face interviews. Graneheim and Lundman's approach of conventional content analysis was used for data analysis. After data analyzing, four themes, including physical distress, psychological suffering, hellish life, and self-negligence, as well as nine categories, including the mother's physical problems, physical weakness, confusion, painful emotions, restless life, involvement in a painful caring process, turmoil in the family, neglect of one's health, and disregard for the occurrence of psychosomatic illnesses, were extracted. Our findings provide a broad range of context-specific challenges that mothers of thalassemic child faced during caring of their children that can affect different aspects of their life and health. Thus, mothers of children with thalassemia need various types of support such as social, emotional, and informational support during caring process of their children.

Perception of Parents of Thalassemic Child to Thalassemia in Pakistan.

BackgroundThalassemia is an inherited blood disorder characterized by reduced hemoglobin synthesis. Aim of our study is to assess the parental knowledge of thalassemia patients and their awareness regarding treatment and preventive measures against thalassemia.MethodsIt is an observational study done at Ali Zaib Foundation Thalassemia Center in Sahiwal, Pakistan, in May 2019. One hundred parents were enrolled in this study and a subjective questionnaire was used to collect data through direct structured survey method over a period of 30 days.ResultsThere were parents of 62 (62%) male patients and 38 (38%) female patients, with a median age of 8.5 ± 6.2 years. Forty-three (43%) parents were illiterate while eight (8%) parents were highly educated. Sixty-six (66%) patients were born to parents with consanguineous marriages. Eighty-two (82%) parents were aware of thalassemia, 72 (72%) were aware of the risk of thalassemia due to cousin marriages, 76 (76%) parents were aware of the importance of prenatal diagnosis (PND), while 88 (88%) believed that a PND was beneficial. Fifty-two (52%) parents knew about thalassemia treatment, 80 (80%) were aware of the importance of blood screening, and 14 (14%) patients were receiving iron chelation therapy. Seventy-eight (78%) parents were aware of thalassemia prevention. All parents believed that the public requires awareness of the importance of premarital screening and PND.ConclusionParental awareness regarding β-thalassemia, its treatment and prevention is fair but far from ideal. Premarital screening, provision of accurate information to the public by professionals, and adequate screening and PND of at-risk families can significantly reduce the rates of thalassemias.

Knowledge and Awareness of Parents Toward Thalassemia

Background: Thalassemias are the most common heritable blood disorders that represents a major public concern. Poor awareness and lack of knowledge lead to increase number of carrier that is a silent reservoir of the disease. To observe the knowledge and awareness level of parents of thalassemic children about the disease.&#x0D; Materials and methods: This descriptive cross-sectional study was conducted in the Thalassemia ward of Chattogram Maa Shishu-O-General Hospital, Chattogram from July 2013 to June, 2014. Parents of 70 thalassemia patients aged 2-18 years interviewed with a formulated questionnaire based on knowledge status and awareness level of parents towards thalassemia. Data were analyzed by both manually and by SPSS-18.&#x0D; Results: Majority of patients were from rural background (54.3%). Only 8.6% parents were consanguineous parents and majority of them completed only secondary education. 44.3% resolved it as inherited disorder. 52.9% resolved thalassemia cannot be cured. Only 24.3% regarded bone marrow transplantation as a measure of cure. More than half (55.7%) did not know how to prevent thalassemia. Only 37.1% knew about prenatal diagnosis. Carrier status of both father and mother were unknown in majority of patients (80%) and screening of sibs was not done at all in a significant number of patients (51.5%). Only 34.3% wanted to do prenatal diagnosis after conception and 65.7% parents were ready to accept therapeutic abortion if fetus would be diagnosed as thalassemia by prenatal diagnosis.&#x0D; Conclusion: Knowledge level and awareness of parents of thalassemic child regarding the disease is unsatisfactory. To reduce disease burden an awareness program regarding the disease and its prevention covering premarital screening, acceptance of prenatal diagnosis and therapeutic abortion is essential.&#x0D; Chatt Maa Shi Hosp Med Coll J; Vol.20 (1); January 2021; Page 12-15

Renal Papillary Necrosis as the First Presenting Clinical Feature in a Sickle Beta and Thalassemic Child

In sickle cell disease (SCD), the clinical manifestations are due to episodes of vascular occlusion and haemolysis. Most of the children experience vaso-occlusive pain episodes by the age of six years. Renal injury in sickle cell disease referred to as sickle cell nephropathy is a frequent yet under-recognised complication. Renal papillary necrosis (RPN) as the first presentation in SCD is rare. We are reporting a 12 year old child with no prior vaso-occlusive episodes, presenting with renal papillary necrosis due to Sickle Beta and Thalassemia.

Factors Affecting Quality of Life in Pediatric Patients with Transfusion Dependent b-Thalassemia: A Single Centre Experience

Background and Objectives:Thalassemia is a serious global health problem, associated with life-threatening anemia that necessitates repeated blood transfusions. Despite the significant advances in the management of thalassemia, little improvement has achieved in patients' health-related quality of life (QOL). This study aimed to assess the QOL of transfusion-dependent children with b-thalassemia. Methodology:A cross-sectional research design followed at the East Jeddah General Hospital, Jeddah City, Saudi Arabia, from April to June 2020. The inclusion criteria were children aged four years or more, with b-thalassemia major or intermedia registered for at least one year at the Hereditary Blood Diseases Unit and receiving a blood transfusion on a monthly or near-monthly basis. The study included 48 children (26 boys and 22 girls). The researchers designed a data collection tool. It comprised sociodemographic characteristics of patients and their parents and the abbreviated version of the World Health Organization Quality of Life Questionnaire (WHOQOL-BREF). It includes 26 items. Parents asked about the quality of their thalassemic children's life during their regular blood transfusion visits. Their responses scored, and the QOL of each thalassemic child produced. This study focused mainly on three QOL domains, namely "Physical health," "Psychological," and "Social relationships." Domain scores scaled in a positive direction (i.e., higher scores denote better QOL). Data were statistically analyzed using the Statistical Package for Social Sciences (IBM, SPSS, version 25). Descriptive statistics, namely frequency, percentage, mean and standard deviation (SD), were calculated. Testing significance was applied using the Chi-square (c2) test, independent samples t-test, and variance (ANOVA). P-values less than 0.05 were considered as statistically significant. Results:Age of thalassemic children ranged from 4 to 15 years (Mean±SD: 8.7±3.0 years). Age at diagnosis ranged from 1 to 60 months years (Mean±SD: 14.1±13.0 months). Seven fathers (14.6%) and nine mothers (18.8%) were illiterate, 23 fathers (47.9%) and 27 mothers (56.3%) had school education, while 18 fathers (37.5%) and 12 mothers (25%) were university educated. The majority of thalassemic children were living with their parents (93.8%). The family monthly income of 30 children (62.5%) was &amp;lt;8000 SR (i.e., &amp;lt;2000 US$). A family history of blood diseases was positive among 52.1% of participant thalassemic children. Before the start of blood transfusion sessions, the overall QOL of 13 children (27.1%) was poor but significantly improves after blood transfusion (p&amp;lt;0.001). Moreover, the overall QOL was significantly better among children with maintained medications (p=0.028). All QOL domains did not differ significantly according to the ferritin level. However, considerably better social domains of QOL were present among children with regular follow up. None of the QOL domains differed among thalassemic children according to their age, age at diagnosis, gender, or their parents' characteristics. Conclusions:The QOL of b-thalassemic children is significantly affected, which substantially improves after blood transfusion. The overall QOL is considerably better among children with maintained medications. Significantly better QOL among thalassemic children was associated with their follow at specific subspecialty clinics, namely Ear, Nose, and Throat (ENT), endocrinology, and nutrition. Disclosures No relevant conflicts of interest to declare.

Implications of Population Screening for Thalassemias and Hemoglobinopathies in Rural Areas of West Bengal, India: Report of a 10-Year Study of 287,258 Cases

Thalassemia and hemoglobinopathies are the most common cause of high morbidity and mortality in India. Detection of carriers and premarital counseling play an important role in preventing the birth of a thalassemic child. The present study aimed to detect large numbers of asymptomatic carriers in rural areas of West Bengal, India. The present cross-sectional study was conducted over a period of 10 years. Thalassemia awareness programs and detection camps were organized at the community level. After signed written consent was obtained, the collected blood samples were subjected to a complete blood count (CBC) in an automated blood cell counter and then analyzed by high performance liquid chromatography (HPLC); in difficult cases, samples were sent to the reference laboratory for molecular characterization. Out of 287,258 samples collected, 32,921 (11.46%) cases revealed abnormal hemoglobins (Hbs); of these, 31,782 (11.06%) carried heterozygous states (carriers/traits), and the remainder were either homozygous or compound heterozygous for different hemoglobinopathies. Two common variants were revealed in the study, namely β-thalassemia (β-thal) (7.23%) and Hb E [β26(B8)Glu→Lys, HBB: c.79G>A] (2.77%) traits. Among homozygous or compound heterozygous states, Hb E/β-thal (0.14%) and β-thal major (β-TM) (0.12%) were predominant. In rural areas of West Bengal, the most common Hb variants detected were β-thal and Hb E traits. In view of the high prevalence of hemoglobinopathies in this region, routine premarital screening and genetic counseling should be emphasized and encouraged to prevent the birth of a thalassemic child, and thus curtailing the burden on families and the health economy.

Spectrum of infections in children with beta-thalassemia

At present, as an effect of hyper transfusion regimen, fewer thalassemia patients undergo splenectomy. However, when transfusional need rises, splenic enlargement or hypersplenism occurs, splenectomy is indicated. In splenectomised patients antibody production in response to new antigens is impaired. Phagocytosis, chemotaxis is also impaired. For all these reasons, splenectomised patients are at increased risk of sepsis from any pathogen. However, encapsulated pathogens like Streptococcus pneumoniae, Haemophilus influenza type B, Neisseria meningitidis, E.coli are the most common. Risk of infection is very high if the patient is below the age of 5 years. Splenectomised patients must receive routine vaccinations, including both live attenuated and killed vaccination. The thalassemic child fulfilling the inclusion criteria was enrolled in the study after taking informed consent from the caretaker. Total of 85 patients below 12 years of age were studied which included patients who were receiving blood transfusion regularly in our hospital and also patients referred from other centers were included in the study. In our study, one patient is positive for HIV and HbsAg [1.17%], two are positive for HCV [2.35%] and 2 patients were diagnosed to have possibly transfusion transmitted Malaria [2.35%].

Factors Related to the Needs of Parents Having School Age Thalassemic Children

Thalassemia is a major genetic blood disorder that has negative impacts on thalassemic children and their family. The needs of parents while caring for thalassemia children are important matters because the failure of meeting needs of parents may affect their mental and physical health. Yet, litle is known about factors that meeting the needs of thalasemic child parents. The study aim was to identify factors that correlate with the needs of parents having a school age thalassemic child in west jave province. This research used correlational analytic with cross sectional approach. The population in this study were parents of school-age children with thalassemia major totaling 136 people using the total sampling method. Data were analyzed with bivariate using chi square and biserial points. Then a multivariate analysis used logistic regression. The results showed the age of parents related to information (p = 0.005) and professional (p = 0.004), parent gender related to information (p = 0,000), professional (p = 0.017), social (p = 0.035), financial (p = 0.023) and spiritual (p = 0.009). Parental education is related to information (p = 0,000), social (p = 0,005), emotional (p = 0,000), financial (p = 0,016) and spiritual (p = 0,001). Parent income is related to information (0,000), social (p = 0,006), emotional (p = 0,000), financial (p = 0,003) and spiritual (p = 0,004). The number of thalassemia major children is related to emotional (p = 0.015) and financial (p = 0.013). Parental needs are related to several factors. The importance of increasing the role of nurses as educators and consultants and helping parents find sources of spiritual, emotional and financial support for parents of school-age children with thalassemia.

The Importance of Prenatal Diagnosis By Chorionic Villous Sampling in Detecting and Preventing Beta Haemoglobinopathies in a Resource Poor Setting: A Report from Eastern Part of India

Introduction: β Haemoglobinopathy, is one of the commonest inherited disorders, with a higher prevalence in the eastern part of India. In view of the lack of facilities for allogeneic stem cell transplantation, including financial constraints, this disease is considered to be incurable in this part of India. So, preventing the birth of a symptomatic Thalassemic child is the best way to prevent the disease, considering the immense medical, social & financial implications in the community. Therefore, prenatal diagnosis is the most important tool for detecting & preventing symptomatic haemoglobinopathies.Objectives: To detect the status of haemoglobinopathies in the foetus of carrier or affected parents, so as to prevent the birth of symptomatic patients with Thalassemia & other haemoglobinopathies.Material & Methods: This is a retrospective analysis of an ongoing registry data of routine prenatal diagnosis of haemoglobinopathy, conducted at NRS Medical College, Kolkata, over a period of approximately 4 ½ years (September,2013-April,2018). The process involves, collection of Ultrasound guided chorionic villous samples (CVS) by an Obstetrician between 12-16 weeks of gestation (maximum up to 19 weeks). Considering the prevalence of specific mutations in this part of India, a total of 25 β mutations are analysed by ARMS-PCR, using specific probes. Some of the common mutations tested are: IVS1-5(G→C), 619bp del, IVS 1-1(G→T), CD 30(G→C), CD 26(G→A) & CD6 (A→T).Results: Total number of CVS were 407(407 mothers were tested), of which 329 samples (80.8%) showed presence of β haemoglobinopathy mutations, & 78(19.2%) did not have any mutations. Among the mutated genotype, heterozygous carrier state was detected in 232(57%), & homozygous/ compound heterozygous state(affected) was detected in 92 foetuses (22.6%). Among the carriers, β Thalassaemia trait was most common(n=185,45.45%), followed by HbE Trait(n=41,10.07%). HbS trait(n=3), HbD trait(n=1) & δβ Thalassemia trait (n=2) were rarely detected. Among the affected foetuses, 44 had compound heterozygous genotype (10.8%), majority being HbEβ thalassemia (n=42,10.3%), followed by δβ-β Thalassemia(n=1) & HbSβ Thalassemia(n=1). The remaining 48 affected cases were homozygous β Thalassemia Major (11.7%). Of the 92 affected pregnancies, 91(22.35%) had been counselled for medical termination of pregnancy (MTP). One case of δβ-β Thalassemia, a milder phenotype, was excluded from MTP counselling. Total number of β mutations detected (both homozygous & heterozygous states) were n=373, and the commonest was IVS1-5(G→C) (n=244,65.4%), followed by CD 26(G→A) (n=85,22.78%), CD 30(G→C) (n=9,2.4%), CD 41/42(-CTTT) (n=8,2.1%), CD 15(G→A) (n=8,2.1%) & CD8/9 (+G) (n=4,1.1%). Rarer β mutations detected were CD15(-T) (n=4,1.1%), CD16(-C) (n=1), CD6 (A→T) (n=4,1.1%), βD-PunjabCD121 (G→C) (n=3) & Asian Indian inversion deletion Gγ (Aγδβ)0(n=2).We know that sometimes maternal cell contamination may occur during villous sampling. So, at the time of childbirth, cord blood was collected & β mutation studies were re-performed. If this could not be done, an HPLC was conducted when the child was >1year old. We have data of 26 children & each time the results have corroborated with the primary CVS sampling data.Among both male and female parents(n=814), the commonest genotype was β Thalassemia Trait (n=621, 76.3%). Among the female parents(n=407), some of the other genotypes were HbE Trait (n=94,23.09%) & HbS trait(n=4,0.98%). Among the male parents(n=407), HbE Trait(n=70,17.19%) was the 2nd most common abnormality, few of the other genotypes being: HbS Trait (5,1.2%), β Thalassemia major (n=3,0.73%) & HbE homozygous disease (n=3, 0.73%).Conclusions: From this cohort, total affected (homozygous/compound heterozygous) foetuses are 92(22.6%). β Thalassemia Major (11.7%) is the most common affliction, followed by HbEβ thalassemia (10.3%) & δβ - β Thalassemia. An attempt at prevention of birth of at least 91(22.35%) future thalassemia patients has been done by means of MTP.Ours is an ongoing registry data and we are following up the children by conducting cord blood mutation studies or HPLC (>1year old child), to study the precision and accuracy of our CVS sampling results. So far there has been 100% concordance. One of the limitations of our study is lesser number of reconfirmation of the born children, in view of social and financial constraints. DisclosuresNo relevant conflicts of interest to declare.

Role of Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) in Detecting Beta-Thalassemia Trait

Thalassemia is one of the commonest inherited diseases in Bangladesh. The birth of a thalassemic child places considerable strain, not only on the affected child and its family but also on the community and the nation at large. To reduce the burden of the society and to reduce the disease incidence by providing genetic counseling, detection of carrier is important. The present study evaluates the role of ‘Naked Eye Single Tube Red Cell Osmotic Fragility Test’ (NESTROFT) in detecting ß-thalassemia trait. The current study is a cross sectional study done during the period of September 2008 to August 2009. The study subjects were sibs, parents and relatives of thalassemia patients of age more than 1 year attending Pediatric department of Chittagong Medical College Hospital. Sample size was 50. Here subjects with lowered osmotic fragility test were detected and later on Hb- electrophoresis was done. All the data were recorded and analyzed by SPSS programme. The Sensitivity, Specificity and predictive value of positive and negative tests were computed and they were 92.6%, 80%, 92.6% and 80% respectively. False positive cases were found. The present study found NESTROFT to be both sensitive and reasonably specific and of high negative predictive value. However, multicenter study with large sample is needed to recommend NESTROFT as a single screening test for detection of ß-thalassemia trait.J Bangladesh Coll Phys Surg 2018; 36(4): 145-152

Challenges of having a child with thalassaemia major: a phenomenological study.

Thalassaemia major is a chronic inherited illness that requires everlasting treatment with blood transfusions and chelating drug therapies. Primary caregivers, especially mothers, encounter many challenges when dealing with their affected child. This study aimed to explore challenges facing Jordanian mothers when having a child with thalassaemia major. A descriptive phenomenological approach was used. Mothers were selected purposefully from two major thalassaemia treatment clinics in Jordan. Semi-structured, face-to-face interviews were conducted and supported by a pre-prepared interview agenda. Colaizzi's process of descriptive phenomenology was used for analysing interviewees' transcripts. A total of 23 Jordanian mothers joined the study. A number of formulated meanings, categories and clusters of themes were instrumental in the emergence of three main themes: 'unprecedented psychosocial distress', 'additional financial burden' and 'deficiency of knowledge and its sources'. The study revealed that rearing a child with thalassaemia entails suffering from different forms of challenges. Psychological distress, social isolation, worries, and fear of the disease and its future consequences were reported. Mothers showed that the added financial burden resulting from frequent hospitalisation and unpaid leave was a challenge. Deficiency in knowledge, including lack of knowledge about the disease and lack of sources of knowledge, was another challenge. Health education is a highly acknowledged and valued approach to lowering distress and challenges associated with rearing a thalassaemic child.

Knowledge, practice and experiences of parents with a thalassemic child

Background: Thalassaemia is a chronic disorder requiring lifelong transfusions and medications causing emotional and financial burden to the family. This study was done to assess the knowledge and awareness of parents having a thalassemic child and to ameliorate their experiences in the upbringing of their child.Methods:A cross sectional, descriptive study was conducted in Pediatric Ward of a Tertiary care Hospital in Navi Mumbai from May-August 2016 in which parents of 40 beta Thalassemia major children between age group of 6 months to 15 years were enrolled. Parents were interviewed through a questionnaire to assess their knowledge, awareness, the practices they follow in regard to the transfusion, treatment, vaccination and prevention of thalassemia. The study also focuses on the emotional suffering of the parents.Results: 47.5% of parents were aware of thalassemia being a genetic disorder.62.5% were aware of regular blood transfusion. 23 parents were aware of the regular medications taken by their children. 42.5% parents had adequate knowledge of the optional vaccines to be taken. 90% parents followed a good practice of getting their child for regular blood transfusion and 92.5% gave them regular medicines.31 parents would periodically get their child investigated but 65% of parents lacked in giving optional vaccines to the child.60% agreed to undergo MTP while only 45% knew about the antenatal detection.Conclusions:Majority of parents followed good practice and had a positive attitude, though the knowledge and awareness about the disease was inadequate.

SOCIO-DEMOGRAPHIC DETERMINANTS;

Background: Thalassemic children require regular multiple blood transfusions.It leads to multiple complications such as blood born infections, iron over load (Haemosidrosis)and spleen enlargement. Thalassemia transmission to future generations can be preventedand life of thalassemic children can also be prolonged by proper devoted pre-marital and intrauterine life management and mitigation of fatal complications. Objectives: The objective ofthis study was to assess the socio-demographic determinants of thalassemic children. StudyDesign: Descriptive study. Setting: Thalassemia Centre Bahawal Victoria Hospital Bahawalpur.Period: One year from January 1, 2016 to December 31, 2016. Material and Method: Parents/guardians of 200 diagnosed children as thalassemic, who were receiving blood transfusionswere selected for interview. The data was collected by Pre- designed Performa to assess sociodemographicdeterminants. The data was analyzed to formulate hypothesis. Results: It wasfound that maximum number of patients coming for blood transfusion were from 7-9 years and10 years and above contributing 30% each while 4-6 years were 24% showing that majority ofpeople seeking for frequent blood transfusion service were over 4 years of age in this area. Atleast one thalassemic child death was disclosed by 32 (16%) families. The birth order of thepresent thalassemic child as 2nd one was told by 60 (30%) parents. There were 72 (36%) comingfrom distance &lt;20 km which shows maximum utility of this center by local area population. Itwas found that 104 (52%) belong to poor socio-economic class. There were 188 (94%) childrenreceiving blood transfusion from teaching hospital blood transfusion center where as 100(50%) blood donors were unknown people. There were 104 (52%) children who were neverchecked for Hepatitis C virus markers while 116 (58%) mothers were illiterate. Regular use ofiron chelating therapy was found to be 8% only. There were 128 (64%) marriages proposed byparents and 72 (36%) enforced by grand elders resulting 144 (72%) marriages with first cousins.There were 160 (80%) consanguineous marriages and 188 (94%) without premarital thalassemiatest. There were 142 (71%) new born deliveries without prenatal thalassemia test. Conclusion:The enforced consanguineous marriages, lack of pre- marital and pre-natal diagnosis, poverty,illiteracy and lack of iron chelating agent support are the thalassemia problem exaggeratingfactors. Reducing magnitude of these problems can mitigate over load and socio-demographicconstraints of thalassemic patients in our country.

Indonesian Mothers' Needs and Concerns about Having a Thalassemic Child and Its Treatment: An Exploratory Qualitative Study

Indonesian Mothers' Needs and Concerns about Having a Thalassemic Child and Its Treatment: An Exploratory Qualitative Study

Thalassemia: Yesterday, Today, Tomorrow.

Thalassemia: Yesterday, Today, Tomorrow.