{ "abstract": "Introduction: Hemoglobinopathies are the most prevalent group of monogenic diseases worldwide. To date, hundreds of hemoglobin (Hb) variants have been identified. Brazil has documented the presence of many rare hemoglobin variants. This phenomenon is related to the country’s remarkable genetic diversity, shaped by historic migrations from different continents. Here we present the first Brazilian description of Hb Sarrebourg, found in Salvador, Bahia. Case Report: Hb chromatography profile suggestive of a heterozygous variant was detected in a 15-month-old female patient at the Association of Parents and Friends of Exceptional Children (APAE, Salvador, BA) and referred to the Genetics and Molecular Biology Laboratory at Federal University of Mato Grosso do Sul for molecular analysis. Initial APAE investigation included a complete blood count, red cell morphology smear, reticulocyte count by brilliant cresyl blue, and bilirubin by a colorimetric method. Results from APAE: RBC 4,270,000/μL, Hb 10.0 g/dL, Hct 30.1%, MCV 70.6 fL, MCH 23.5 pg, CMCH 33.2 g/dL, RDW 17.4%. Findings: mild anemia, hypochromia, microcytosis, target cells, mild reticulocytosis. Bilirubin within expected range. At LGBM-UFMS, the chromatography profile (Premier Resolution, Trinity Biotech) revealed Hb A0 (54.1%), Hb F (1.6%), and a variant hemoglobin co-eluting with Hb A2 at 30.7% (Relative Retention Time to HbA2 of 0.98). Microcytic, hypochromic anemia, together with the chromatographic profile, raised suspicion for Hb E, but the PCR-RE for Hb E confirmed its absence. Furthermore, Sanger sequencing of HBB gene (SeqStudio Genetic Analyzer; ThermoFisher Scientific) revealed mutation HBB:c.395A>G in a heterozygous state, corresponding to Hb Sarrebourg (β131 (H9) Gln→Arg). Common α-thalassemia deletions (-3.7, -4.2, -SEA, -MED, -FIL, -THAL, -20.5) were excluded by gap-PCR. A bioinformatic analysis performed on the platform “Xpasy” showed that Hb Sarrebourg has a theoretical pI of 7.13, thus greater than HbA (6.74) Discussion: Hb Sarrebourg is an exceptionally rare β-globin variant, with only three reports worldwide. The first case was a Turkish child with anemia due to iron deficiency. Pastor et al. (2007) later described nine Spanish carriers, all of whom were hematologically normal. Çürük et al. (2010) reported a Turkish family with four carriers; three showed unusually low percentages of variant hemoglobin (17–19%) along with erythrocytosis, microcytosis, and hypochromia, which is possibly explained by undiagnosed α-thalassemias. Low Hb Sarrebourg concentration recalls HbS (equal pI) behavior when co-inherited with α-thalassemia. The same report (2010) describes one individual with Hb Sarrebourg and β⁰-thalassemia with a clinical picture of severe hemolytic anemia, which highlights the risk of rare variants when combined with other beta globin conditions. Current evidence suggests Hb Sarrebourg alone is not causal for anemia, erythrocytosis, or hypochromia, reinforcing the need for molecular biology to obtain an accurate diagnosis in populations with a high prevalence of hemoglobinopathies, and the need to exclude non-genetic anemia causes in cases like the one presented here. Conclusion: This report is the first description of Hb Sarrebourg in Brazil, expanding its distribution to South America. Although generally benign, recognition through molecular diagnosis is essential, since interactions with HbS or beta thalassemias may cause severe disease.", "abstract_shown": true, "affiliations": [ "Universidade de Costa Rica, Costa Rica", "Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil", "Universidade do Estado da Bahia (UNEB), Salvador, BA, Brazil", "Associação de Pais e Amigos dos Excepcionais (APAE), Salvador, BA, Brazil", "Universidade Federal de Mato Grosso do Sul (UFMS), Três Lagoas, MS, Brazil" ], "article_type": null, "arxiv": null, "author_total": 10, "authors": [ { "affs": [ 0 ], "name": "Joy Robleto QUESADA" }, { "affs": [ 1 ], "name": "Lucas Nathan De Souza NUNES" }, { "affs": [ 1 ], "name": "Bárbara Braga Vieira MARQUES" }, { "affs": [ 1 ], "name": "Kaiky Corturato PIVA" }, { "affs": [ 1 ], "name": "Marcela Cantarin RONCADA" }, { "affs": [ 1 ], "name": "Amanda Cristina Meneguetti BERTI" }, { "affs": [ 2 ], "name": "Yasmin Costa CORREIA" }, { "affs": [ 2 ], "name": "Diogo De Souza Amaral ALMEIDA" }, { "affs": [ 3 ], "name": "Tatiana AMORIM" }, { "affs": [ 4 ], "name": "Edis BELINI-JUNIOR" } ], "bibtex": "https://research.draconitic.com/paper/8j629zx42n022.bib", "cited_by": 0, "doi": "10.1016/j.htct.2026.106731", "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S2531137926004785", "id": "8j629zx42n022", "issns": [ "2531-1379", "2531-1387" ], "landing_url": "https://doi.org/10.1016/j.htct.2026.106731", "language": "en", "licence": "CC-BY", "licence_label": "CC BY", "licence_source": "journal", "licence_url": "https://creativecommons.org/licenses/by/4.0/", "metadata_licence": null, "native_subjects": [ [ "lcc", "RC633-647.5" ], [ "openalex", "2716|Hemoglobinopathies and Related Disorders" ] ], "openalex": "W7223082925", "pdf_url": "https://www.sciencedirect.com/science/article/pii/S2531137926004785/pdf", "pmcid": null, "pmid": null, "published": "2026-10-23", "publisher": "Elsevier", "ris": "https://research.draconitic.com/paper/8j629zx42n022.ris", "sources": [ { "first_seen": "2026-10-30T13:43:25Z", "native_id": "3e0125406e61403a93ade3e559f3f6a3", "source": "doaj", "url": "https://doi.org/10.1016/j.htct.2026.106731" } ], "subjects": [ { "field": "medicine", "origin": "openalex:2716|Hemoglobinopathies and Related Disorders", "subfield": "human-genetics" } ], "title": "FIRST REPORT IN BRAZIL OF RARE HEMOGLOBIN SARREBOURG [BETA 131(H9) GLN>ARG,", "title_text": "FIRST REPORT IN BRAZIL OF RARE HEMOGLOBIN SARREBOURG [BETA 131(H9) GLN>ARG,", "type": "peer-reviewed", "updated_at": "2026-10-30T13:43:25Z", "url": "https://research.draconitic.com/paper/8j629zx42n022", "venue": "Hematology, Transfusion and Cell Therapy", "versions": [] }