Extended family thalassemia screening as a feasible alternative method to be implemented in identifying carriers in West Java, Indonesia

Susanah, Susi; Sari, Nur Melani; Prihatni, Delita; Sinaga, Puspasari; Trisaputra, Jessica Oktavianus; Rakhmilla, Lulu Eva; Sribudiani, Yunia

doi:10.1007/s12687-021-00565-w

Cited by 5 publications

(6 citation statements)

References 21 publications

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“…The data reported by Susanah S et al a study conducted in Indonesia in 2022 estimated the prevalence of 42.7% among EFM of thalassemia major children. El-Shanshory MR et al recorded a prevalence of 35.8 % in 2021, Sharma G et al recorded a prevalence of 48.8% in India in 2016, Husna N et al recorded 44.2% prevalence in 2017 ( 22 , 23 , 24 , 25 ). These studies showed higher prevalence as compared to our study probably due to geographical or community specific distribution of thalassemia carrier status.…”

Section: Discussionmentioning

confidence: 99%

Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy

Sonkawade

Kinikar

Kulkarni

et al. 2022

Ethiop J Health Sci

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BACKGROUND: Thalassemia is considered as the most common single gene disorder worldwide. Preventive measures include identification of thalassemia carriers (traits) through screening, genetic counselling and prenatal diagnosis to reduce the incidence. This study aims at estimating the prevalence of carrier status detection among the extended family members of children having thalassemia major so as to use it as a screening prevention strategy with appropriate counselling. METHODS: This cross-sectional study was conducted in thalassemia unit of Pediatric Department of a tertiary care teaching hospital over a period of 18 months. Blood samples were collected from 117 extended family members (EFM) of 23 children with thalassemia major to carry out investigations such as Complete Blood Counts (CBC), Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT), Reticulocyte count, High Performance Liquid Chromatography(HPLC) and serum ferritin. Reports were analysed to find out the prevalence of carriers. RESULTS: Among 117 EFM, 62 (52.9%) were males while 55(47.1%) were females. Mean age distribution in this study was 16.49 years (8.5). Prevalence of thalassemia trait (carrier) was 35%. NESTROFT test was positive in 57(48.7%) participants. The binary logistic regression found only positive NESTROFT test as a predictor (adjusted OR=0.022, P=0.001) of having raised HbA2 (HbA2≥3.5 %). CONCLUSION: Screening of thalassemia carrier by targeting extended family members of thalassemia major children could yield more carrier cases and targeted counselling could help effectively in decreasing the number of children born with thalassemia major. This strategy could be included in future plan of national prevention programme for thalassemia.

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Section: Discussionmentioning

confidence: 99%

Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy

Sonkawade

Kinikar

Kulkarni

et al. 2022

Ethiop J Health Sci

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“…The available treatment modalities for thalassemia patients covered by Indonesia's national health insurance are supportive approaches such as routine blood transfusion and iron chelation therapy. However, their availability is uncertain in Indonesia, especially in rural areas [1,2,6]. Blood transfusions may alleviate anemia symptoms and, when given effectively, may result in good energy levels, good growth and development, and sufficiently suppressed intra and extramedullary hematopoiesis [1,2].…”

Section: Thalassemia In Indonesiamentioning

confidence: 99%

Psychological Burden among Pediatric Thalassemia Major Patients in Indonesia: A Review

Sari,

Rahmartani,

Wirahmadi

et al. 2024

Thalassemia Reports

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Thalassemia a common hereditary blood disorder resulting in anemia. It is an important public health problem, with a high prevalence in Southeast Asia and Mediterranean countries, and preventable through screening programs. However, due to its chronic nature, permanent physical changes, troublesome complications, and lifelong treatment, pediatric patients with thalassemia major are more prone to mental disorders and cognitive impairment. Internalizing and externalizing problems are higher in pediatric patients with thalassemia. Children with β-thalassemia major exhibit lower IQ scores than healthy children. Neurophysiology and neuroimaging examinations have shown abnormal results in children with thalassemia. Co-morbidity with mental disorders increases the mortality, morbidity, and total healthcare costs of patients with thalassemia. Therefore, routine evaluation of mental health problems is recommended to accommodate the early detection and prompt treatment of mental disorders. A multidisciplinary approach for thalassemia patients and families should be delivered by providing appropriate medical care, psychosocial support, and good transition care to improve survival and well-being, assist good social integration and daily functioning, and cope with the stress of chronic disease.

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“…Subsequently, discussions were held with IT experts to arrange family data that will be represented as a pedigree or family tree (Fig. 1 Excerpt of extended family with thalassemia major) [14], which will be entered into the application. The data of the thalassemia registry were included in the application as an initial dataset.…”

Section: Content Creation and Designing Pedigreementioning

confidence: 99%

“…The retrospective screening method within the extended families of thalassemia major patients as index cases can serve as an indicator for larger families at high risk of inheriting this genetic disease. A 2020 study in West Java, Indonesia, found 42.7% thalassemia carriers in extended families of thalassemia major patients, compared to 10.6% in families without thalassemia history [14]. Previous similar studies conducted in Pakistan by Ahmed S. et al (2002) Considering the aforementioned factors, this method appears to be an appropriate approach given the high prevalence of thalassemia carriers and limited screening resources in Indonesia.…”

mentioning

confidence: 98%

Thala_screen/lintas – Developing a Mobile Application to Identify Screening Targets in the Extended Family of Thalassemia

Susanah,

Sari,

Rakhmilla

et al. 2023

Preprint

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Background Thalassemia poses a double burden on medical care and healthcare financing. Due to the high prevalence and the number of affected people which tends to increase in Indonesia, a national prevention and control program is the best rational approach to be implemented. Tailoring to limited resources, screening through the cascade method within extended families with thalassemia patients as index cases seems to be an appropriate approach. To address this, the Thala_screen/LINTAS mobile application was developed as a tool to determine screening targets within extended families with index cases. Methods The development of the application followed four phases. Firstly, content creation involved literature research, discussions with five experts, and pedigree design. Secondly, a trial phase by a forum group discussion was conducted with 30 subjects to evaluate the application's acceptability and user experience through quantitative and qualitative research. Thirdly, content validation was performed using an assessment sheet, which was reviewed by the experts twice. Lastly, a usability study was conducted with 25 parents of thalassemia patients at Hasan Sadikin General Hospital, using ABCs questionnaires after using the application. Results The application's content data was aligned with its objectives, including family demographic data presented in a pedigree chart. The initial dataset included thalassemia registry data. Quantitative research showed an 80.25% acceptability rate, while qualitative research indicated that the application provided was relevant, useful, and presented in an appealing format. However, accessibility received an unsatisfactory response initially, which improved after reevaluation, raising the total validity index from 0.63 to 0.86. The usability study revealed favorable mean scores for the action (2.92) and behavior (0.85) sections, indicating the subjects' interest and ease of using the application. Conclusion This study showed that the Thala_screen mobile application was an acceptable and feasible tool for identifying thalassemia carrier screening targets in extended families.

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Extended family thalassemia screening as a feasible alternative method to be implemented in identifying carriers in West Java, Indonesia

Cited by 5 publications

References 21 publications

Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy

Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy

Psychological Burden among Pediatric Thalassemia Major Patients in Indonesia: A Review

Thala_screen/lintas – Developing a Mobile Application to Identify Screening Targets in the Extended Family of Thalassemia

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