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Thalass. Rep., Volume 16, Issue 1 (March 2026) – 5 articles

Cover Story (view full-size image): In this report, we describe a rare clinical presentation of choroidal neovascularization in a 27-year-old β-thalassemia patient in the absence of angioid streaks. Whole-exome sequencing revealed a rare heterozygous missense variant in the ABCC6 gene (c.3524T>C; p.V1175A), located in a highly conserved region and predicted to reduce protein stability. Variants in ABCC6 are classically linked to pseudoxanthoma elasticum, a disorder characterized by pathological calcification and ocular abnormalities. Our findings suggest that the coexistence of a rare ABCC6 variant and the hypoxic environment associated with thalassemia may promote retinal neovascularization. This study highlights the value of genomic investigation in explaining unusual clinical complications in hemoglobinopathies. View this paper

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9 pages, 247 KB

Open AccessArticle

Iron Overload and Endocrine Dysfunction in Adults with Transfusion-Dependent Beta-Thalassemia and Growth Retardation: A Correlational Study

by Muhammad Hammad, Sadaf Fardoos, Khadija Shakoor and Ali Nasir

Thalass. Rep. 2026, 16(1), 5; https://doi.org/10.3390/thalassrep16010005 - 11 Mar 2026

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Abstract

Background and Objective: Iron overload remains a significant clinical concern in patients with transfusion-dependent beta-thalassemia (TDT). This study aims to characterize the iron load and endocrine profile of adult transfusion-dependent beta-thalassemia patients and to evaluate their correlation with growth retardation. Methods: A cross-sectional study was conducted at PIMS Hospital, Islamabad, involving 62 adult patients with homozygous or HbE beta-thalassemia receiving regular blood transfusions. Iron overload was assessed using serum ferritin (SF) and transferrin saturation (TS), while endocrine function was evaluated through measurements of thyroid-stimulating hormone-sensitive (TSH), free thyroxine (FT4), and insulin-like growth factor-1 (IGF-1). Data was analyzed using SPSS v26.0 and R v4.3.1, which included Pearson correlation, chi-square testing, and multivariable regression to explore associations between iron indices and endocrine dysfunction. Results: Serum ferritin demonstrated significant negative correlations with FT4 (r = −0.348, p = 0.005) and IGF-1 (r = −0.302, p = 0.015). MRI T2* pancreas values correlated positively with FT4 (r = 0.268, p = 0.037) and IGF-1 (r = 0.312, p = 0.015). Patients with ferritin > 5000 ng/mL exhibited a higher prevalence of low IGF-1 levels (89.2% vs. 64.0%, p = 0.018). No significant gender-based differences were observed in endocrine parameters. Conclusion: Pancreatic iron burden and elevated serum ferritin were significantly associated with impaired thyroid and growth axis function, highlighting the value of integrating MRI T2* and biochemical markers for early endocrine risk stratification in adult TDT patients. Full article

6 pages, 1310 KB

Open AccessBrief Report

Hemoglobinopathy Prevention Program in Immigrants: Equality Plus Education Program

by Duran Canatan, Vincenzo De Sanctis, Joan Lluis Vives Corrons, Giorgio Piacentini, Fatih Kara, Basak Tezel, Aslıhan Ugur Külekci, Özlem Zümrüt, Zekiye Özdemir, Kemal Gürsoy, Gamze Kaymak, Şirin Aydın, Tanju Altunsu, İlhan Aydın, Mustafa Hambolat, Nilgün Keloğlu, Elif Durmaz and Abdullah Solmaz

Thalass. Rep. 2026, 16(1), 4; https://doi.org/10.3390/thalassrep16010004 - 10 Mar 2026

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Abstract

Background and aim: Hemoglobinopathies have become an important public health problem due to global migration. The aim of this project was to address the problem of hemoglobinopathy among immigrants living in Türkiye, Spain, and Italy, in addition to training health managers and Syrian family physicians at immigrant health centers in the southeastern provinces of Türkiye. Material and methods: A three-year international project, named EQUALITY PLUS, was supported by the European Union Erasmus Project. We planned transnational meetings (TPM), vocational education meetings (VET), and Practical Implementation Meetings (PIEM) for the education program. Results: Four TPMs were held in Türkiye, Spain, and Italy, involving a total of 49 professionals. Two VETs were held in Spain and Italy. A total of 23 professionals attended both VETs. Six PIEMs were held in the southern and southeastern Turkish provinces, such as Adana Mersin, Hatay, Gaziantep, Kilis, and Sanliurfa. A total of 442 people, including 373 Syrian family physicians and 69 provincial health managers, were educated in six provinces in Türkiye. Discussion: While the immigrants to Italy and Spain come mainly from Central and North West African maritime routes, immigrants to Türkiye predominantly come from Syria. Among a total of 4 million Syrian immigrants to Türkiye, 200.000 were found to be carriers of thalassemia. In the refugee camps where Syrian immigrants live, the fertility rate is high and the number of sick newborns is increasing, and birth control, genetic counseling, and prenatal diagnosis methods are not sufficient. This project was intended to serve as a guide to prevent hemoglobinopathy in Syrian immigrants. Further projects are needed to address the fertility rate and increased number of sick newborns in these refugee camps. Family physicians at migrant health centers received training on the prevention of hemoglobinopathies. This training included providing detailed genetic counseling to families and providing prenatal diagnosis and preimplantation genetic diagnosis opportunities. Because of the major earthquake that occurred in this region after the project, the work could not continue and preliminary data could not be obtained. Public health services will follow the results of project and the registered number of sick newborns with hemoglobinopathies. Full article

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16 pages, 5310 KB

Open AccessArticle

Cascade Screening of β-Thalassemia in an Indian Family Using Flow Injection Analysis–Triple Quadrupole Mass Spectrometry: Comparison of Micro Sampling Approaches with Conventional Electrophoresis

by Ankitha K. Puthiyaveettil, Harshini K. Musuvathi and Deepalakshmi D. Putchen

Thalass. Rep. 2026, 16(1), 3; https://doi.org/10.3390/thalassrep16010003 - 24 Feb 2026

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Abstract

Background: β-thalassemia is a rare genetic disorder affecting 1–5% of the global population and poses a health burden due to migration of individuals from endemic regions. Identifying asymptomatic β-thalassemia carriers is essential to prevent the birth of thalassemic babies. A simple, sensitive method compatible with self-sampling could enhance the detection of β-thalassemia in the population. Methods: Capillary blood was collected via dried blood spot (DBS) and dried blood matrix (DBM) from 18 members (52.9%, 18/34) of a three-generation family. Hemoglobin was extracted, and globin chains were analyzed on a triple quadrupole mass spectrometer (TQMS). δ/β (%) was utilized as a biomarker to identify β-thalassemia. Venous blood collected from positive and negative individuals (n = 11) was further tested to confirm the findings and validated with complete blood count (CBC) and Capillary Electrophoresis (CE). Results: β-thalassemia was detected in seven individuals: three from generation I, three from generation II, and one from generation III. CBC showed thalassemia indices, while CE demonstrated elevated HbA2 consistent with β-thalassemia. Molecular sequencing of two samples confirmed the heterozygous c.92 + 5 G > C mutation in the β-globin gene. The overall prevalence of β-thalassemia in the family was 20.6% (7/34). High clinical performance was achieved across sample types, with 100% sensitivity for DBS, 100% specificity for DBM, and an overall accuracy of 91% when compared with CE. Conclusions: TQMS in combination with CBC parameters successfully identified asymptomatic heterozygous β-thalassemia carriers using self-sampling techniques. Cascade screening within affected families emerges as a possible strategy for early detection of β-thalassemia pending comprehensive validation. Full article

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7 pages, 980 KB

Open AccessCase Report

A Heterozygous ABCC6 Variant as a Potential Contributor to Choroidal Neovascularization in a β-Thalassemia Patient

by Debashis Pal, Dipankar Saha, Prosanto Kumar Chowdhury, Arup Das and Anupam Basu

Thalass. Rep. 2026, 16(1), 2; https://doi.org/10.3390/thalassrep16010002 - 29 Jan 2026

Viewed by 584

Abstract

β-thalassemia patients often experience ocular abnormalities such as angioid streaks (ASs), retinal pigmented epithelium degradation, visual field defects, and in rare instances choroidal neovascularization (CNV). Although ASs are common in individuals with hemoglobinopathies, the occurrence of choroidal neovascularization without preceding ASs is exceptionally rare. In this report, we describe a β-thalassemia patient who had developed CNV at the age of 27 years and also had experience of renal stones at the age of 19 years. He had undergone splenectomy and was under conservative therapy of iron supplementation. We conducted whole-exome sequencing (WES) in search of CNV-associated variants. Through variant filtering and Phenolyzer analysis, we have identified a rare heterozygous missense variant in the ABCC6 gene, ABCC6:NM_001171:exon25:c.3524T>C (rs376062004). In silico analysis revealed that this variant is present in the highly conserved region and is likely to decrease the stability of the protein. Mutation in the ABCC6 gene leads to pseudoxanthoma elasticum (PXE). Previously, it was believed that ASs and subsequent CNV-like ocular complication may develop due to the pathophysiological condition of thalassemia. However, our study provides compelling evidence that rare mutations in the ABCC6 gene, in combination with oxygen insufficiency, may contribute to the development of CNV in β-thalassemia patients. This finding highlights the potential genetic basis of PXE-mediated CNV development in β-thalassemia. Full article

(This article belongs to the Section Quality of Life)

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5 pages, 301 KB

Open AccessEditor’s ChoiceCase Report

The First Gene Therapy for Treating an Indonesian Child with Thalassemia Major: A New Hope for Indonesia

by Edi Setiawan Tehuteru, Teck Onn Lim, Anky Tri Rini Kusumaning Edhy, Ludi Dhyani Rahmartani, Stephen Diah Iskandar, Cresentia Irene, Rendi Prawira Gunawan, Reganedgary Jonlean and Grace Erdiana

Thalass. Rep. 2026, 16(1), 1; https://doi.org/10.3390/thalassrep16010001 - 19 Dec 2025

Viewed by 1075

Abstract

Background/Objectives: Thalassemia is highly prevalent in Indonesia, and its treatment imposes a significant financial burden. To date, thalassemia management in Indonesia remains largely limited to supportive therapies. This report aims to present the monitoring of the first Indonesian pediatric thalassemia patient to undergo gene therapy. Methods: Medical summaries were gathered across multiple time points. The gene therapy process consisted of several phases: screening, apheresis and cell manufacturing, conditioning, cell infusion, and post-treatment follow-up. The therapy utilized autologous CD34+ hematopoietic stem and progenitor cells (HSPCs), which were genetically modified using a lentiviral vector carrying the beta-globin gene. The primary outcome of this study was transfusion independence, determined through serial assessments of hematological parameters over a six-month period following gene therapy. Results: A 15-year-old female had been diagnosed with thalassemia major at the age of five. DNA analysis revealed compound heterozygous mutations Hb Malay (codon 19, AAC^Asn > AGC^Ser) and IVS1-nt5 (G > C). She had been receiving regular blood transfusions every 3–4 weeks, and hemosiderosis was detected in the liver and pancreas. Given the patient’s age—over 10 years—hematopoietic stem cell transplantation carries increased risks, making gene therapy the most suitable curative option. During the six-month follow-up period after gene therapy, the patient remained transfusion-independent and experienced no complications. Conclusions: In selecting an appropriate curative therapy for thalassemia patients, several factors must be considered. The successful implementation of the first gene therapy in an Indonesian pediatric thalassemia patient should serve as a catalyst for the continued development and expansion of curative treatment options for thalassemia patients across the country. Full article

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