Thalassemia Reports

12 pages, 396 KB

Open AccessArticle

Parental Perspectives on Prenatal Diagnosis and Termination of Pregnancy in Families Affected by β-Thalassemia in Pakistan: A Qualitative Study

by Iqra Javaid, Muhammad Ameeq and Muhammad Muneeb Hassan

Thalass. Rep. 2026, 16(2), 9; https://doi.org/10.3390/thalassrep16020009 (registering DOI) - 9 May 2026

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Abstract

Background: Advances in medical genetics and prenatal diagnosis have improved the detection of fetal abnormalities during pregnancy. The findings may lead some couples to consider termination of pregnancy (TOP). This study aimed to explore parental perspectives on prenatal diagnosis and termination of pregnancy among families in which both parents were β-thalassemia carriers and had at least one previously affected child. Methods: A qualitative study was conducted using semi-structured interviews with 30 participants (15 fathers and 15 mothers) recruited from Bahawal Victoria Hospital, Bahawalpur, Pakistan, between November 2024 and February 2025. Eligible couples were registered for chorionic villus sampling (CVS)-based prenatal diagnosis; both parents had confirmed β-thalassemia carrier status, and each family had at least one previously affected child with β-thalassemia major or intermedia. Interview data were analyzed using thematic analysis. Results: Religious beliefs, financial burden, prior experience with affected children, and partner support emerged as major influences on reproductive decision-making. Many parents viewed prenatal diagnosis as important for preparation and informed decision-making. Mothers more often described emotional conflict, stress, and reliance on support, whereas some fathers expressed greater acceptance of termination in the context of severe disease burden. Conclusions: Religious beliefs, prior disease experience, family dynamics, and socioeconomic pressures were important and interrelated influences on decisions about prenatal diagnosis and termination within this study population. Our findings underscore the importance of culturally sensitive, non-directive genetic counseling in low-resource settings. The study was limited by its small sample, single-center design, the use of joint spousal interviews, and the possibility that pre-interview counseling influenced participants’ responses. Full article

(This article belongs to the Section Conventional Treatment of Thalassemia)

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12 pages, 915 KB

Open AccessArticle

Association Between Plasma Cystatin C Concentration and Urine Osmolality in Adults with Different Forms of Beta-Thalassemia: A Cross-Sectional Study in Vietnam

by Loan Do Thi Thanh, Anh Nguyen Ngoc, Kien Nguyen Trung, Ha Nguyen Thi Thu, Dung Nguyen Huu and Thang Le Viet

Thalass. Rep. 2026, 16(2), 8; https://doi.org/10.3390/thalassrep16020008 - 6 May 2026

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Abstract

Objective: To determine plasma cystatin C concentrations, urine osmolality and their relationship with disease severity in beta-thalassemia patients. Methods: A cross-sectional study was conducted on 234 patients with beta-thalassemia, including equal numbers (78 each) of beta-thalassemia major, intermedia, and minor cases, along with 78 healthy individuals matched for age, sex, and body mass index, who served as the control group. Plasma cystatin C concentrations were quantified in all subjects using the ELISA method, and urine osmolality level was measured automatically on a FISKE 210 machine (USA). Results: The proportion of beta-thalassemia patients with increased plasma cystatin C concentration was 39.3% and the proportion with a decreased urine osmolality level was 67.5% compared with the control group. Plasma ferritin had predictive value for increased plasma cystatin C concentration (cut-off point: 567.5 ng/mL; AUC = 0.803) and decreased urine osmolality level (cut-off point: 488.15 ng/mL; AUC = 0.820), p < 0.001. Plasma cystatin C concentration increased gradually and urine osmolality level decreased gradually from minor beta-thalassemia to intermedia beta-thalassemia to major beta-thalassemia patients, with p < 0.001. Conclusions: Increased plasma cystatin C concentrations and decreased urine osmolality levels are common and are associated with severity in beta-thalassemia patients. Full article

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28 pages, 1280 KB

Open AccessReview

Recent Advances in Thalassemia Management: From Curative Therapies to Artificial Intelligence

by Mohamed Medhat Abdelwahab Gamaleldin, Shaimaa Mahmoud Nashat Sayed Abdelhalim and Ivo Abraham

Thalass. Rep. 2026, 16(2), 7; https://doi.org/10.3390/thalassrep16020007 - 22 Apr 2026

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Abstract

Thalassemia is an inherited hemoglobin disorder characterized by chronic hemolytic anemia and substantial long-term healthcare needs. In β-thalassemia major, patients typically require regular red blood cell transfusions with iron chelation to prevent transfusional iron overload. Although supportive care has markedly improved survival, it is associated with a high treatment burden and does not provide a cure. In recent years, curative and disease-modifying therapies have expanded the treatment landscape. Allogeneic hematopoietic stem cell transplantation (HSCT) offers a potentially curative option for selected patients, while autologous gene therapy and gene-editing approaches have shown the capacity to achieve transfusion independence in clinical studies. In parallel, pharmacologic advances—including luspatercept, a transforming growth factor-beta (TGF-β) ligand trap—have been shown to enhance erythropoiesis and reduce transfusion requirements, and emerging agents such as fetal hemoglobin inducers (e.g., thalidomide) and the oral pyruvate kinase activator mitapivat have demonstrated clinically meaningful hemoglobin improvements in selected populations. Adjunctive strategies, including antioxidants, are under investigation to mitigate oxidative stress, and applications of artificial intelligence are increasingly used to support screening, diagnosis, and longitudinal monitoring of iron overload. This review synthesizes recent advances in curative therapies, novel pharmacologic agents, supportive strategies, and AI-enabled tools and highlights priorities for future clinical development and implementation. Full article

(This article belongs to the Collection Feature Papers in Thalassemia Reports)

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12 pages, 813 KB

Open AccessArticle

Implementing Genetic Counseling for Rare Diseases in LMICs: Pediatric and Prenatal Perspectives from India

by Siddannagoud, Dolat Singh Shekhawat, Kuldeep Singh, Varuna Vyas, Pratibha Singh, Charu Sharma, Navdeep Kaur Ghuman and Tanu Gupta

Thalass. Rep. 2026, 16(2), 6; https://doi.org/10.3390/thalassrep16020006 - 1 Apr 2026

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Abstract

Background: This study investigated the clinical characteristics of consultands and examined their perceived personal control, satisfaction, and decision-making regarding genetic testing, as well as the factors influencing these outcomes, at a tertiary care center in northwestern India. Methods: Detailed clinical and family histories were recorded, and trained genetic professionals provided genetic counseling. Perceived personal control (PPC) was assessed pre- and post-counseling using the PPC (nine-item) questionnaire, while post-counseling satisfaction was measured using the six-item Genetic Counseling Satisfaction Scale (GCSS). Outcomes included awareness of genetic disorders, uptake of genetic testing, and reproductive decision-making. Results: A total of 225 consultands (125 pediatric and 100 antenatal) were enrolled. The most common systemic disorders were: inborn errors of metabolism (21.3%), congenital anomalies (15.2%), neurological disorders (15%), primary immunodeficiencies (12.3%), renal genetic disorders (12.2%), respiratory disorders (12%), thalassemia (9%), endocrine disorders (3.9%), and cardiovascular anomalies (3%). In the pediatric group, socioeconomic status (p = 0.048) and higher education levels (p = 0.02) were significantly associated with higher perceptions of adequate counseling time and overall GCSS. None of the examined factors in the prenatal group showed a statistically significant association with satisfaction scores. Consultands primarily concerned with preventing recurrence in future pregnancies showed significantly higher PPC scores both before (p = 0.026) and after counseling (p = 0.009), with the greatest overall improvement in satisfaction (p = 0.044). In the pediatric group, those with an affected family member showed the greatest post-counseling improvement in PPC. Conclusions: Low education, limited awareness, socioeconomic constraints, delayed presentation and low referral rates were key barriers to effective genetic counseling. Addressing these factors can improve consultand awareness, satisfaction, decision-making, and uptake of genetic testing, thereby enhancing reproductive outcomes in high-risk families. Full article

(This article belongs to the Section Quality of Life)

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Thalass. Rep., Volume 16, Issue 2 (June 2026) – 4 articles

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