bims-conane 2025-05-11 papers

J Obstet Gynaecol Res. 2025 May;51(5): e16310

Prenatal diagnosis and management of fetal anemia caused by hemoglobin H-Adana: A case report.

Sirinart Sirilert, Kasemsri Srisupundit, Pimlak Charoenkwan, Arunee Phusua, Theera Tongsong.

Hemoglobin (Hb) Adana, the alpha-globin gene mutation at codon 59 (GGC → GAC), is very rare globally but occasionally encountered in Southeast Asia. Its combination with alpha0-thalassemia (-SEA) results in Hb H-Adana, which can lead to severe fetal anemia. This report describes a 22-year-old woman at 33 weeks, presenting with fetal cardiomegaly with early hydropic changes and anemia (middle cerebral artery peak systolic velocity: 1.75 multiple of median [MoM]). Cordocentesis revealed a Hb level of 4.3 g/dL, and intrauterine transfusion (IUT) was performed. However, non-reassuring fetal heart rate developed after IUT and cesarean section was performed. A preterm live male infant was delivered, weighing 1455 g, and was confirmed to be Hb H-Adana. Post-natal life was transfusion-dependent. In conclusion, this case focuses on prenatal features of fetal Hb H-Adana, which caused fetal anemia and hydrops fetalis in the third trimester. In cases of unexplained fetal anemia, Hb H-Adana should be listed in the differential diagnoses, especially in areas of high prevalence.

Keywords: fetal anemia; hemoglobin Adana; hemoglobin H‐Adana; hydrops fetalis; intrauterine treatment; prenatal diagnosis

DOI: https://doi.org/10.1111/jog.16310

Hum Genet. 2025 May 06.

Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.

Tejashree Anil More, Prabhakar Kedar.

Hereditary spherocytosis (HS) is a common form of haemolytic anaemia caused by defects or deficiencies in genes encoding erythrocyte membrane proteins, such as ANK1, SPTB, SLC4A1, EPB42, and SPTA1. Among these, ANK1 and SPTB mutations are the most frequent causes of HS worldwide. This study analysed 53 Indian HS patients, identifying 33 novel and 12 previously reported SPTB variants using targeted next-generation sequencing (t-NGS). The identified SPTB variants included frameshift (28%), missense (24%), nonsense (44%), and splicing (4%) types, with nonsense variants being the most common. These nonsense variants typically result in truncated proteins. The variants were widely distributed across the gene, with the highest density observed in the spectrin repeats and ankyrin-binding domain, while no variants were found in the tetramerization domain. All identified SPTB variants exhibited heterozygous inheritance, consistent with an autosomal dominant inheritance pattern of the gene causing HS. One patient, however, carried compound heterozygous variants, leading to severe anaemia, and five patients had de novo SPTB variants. This study expands the spectrum of SPTB variants, enhances the understanding of spectrin-related molecular defects, establishes genotype-phenotype correlations, and provides valuable insights for laboratories developing genetic tests for HS. The high number of identified variants highlights the importance of advanced technologies like NGS for accurate molecular diagnosis in HS disorder. This approach not only supports clinical diagnostics but also aids in family counseling for improved management of HS.

DOI: https://doi.org/10.1007/s00439-025-02748-8

Int J Mol Sci. 2025 Apr 18. pii: 3842. [Epub ahead of print]26(8):

The Relevance of Endothelial Dysfunction Biomarkers in Thalassemia Patients and Healthy Individuals: A Systematic Review and Meta-Analysis.

Hataichanok Chuljerm, Supawadee Maneekesorn, Gabriel Thorup, Sothida Nantakool, Pimlak Charoenkwan, Kittipan Rerkasem.

Cardiovascular complications are a major concern in thalassemia patients, primarily driven by endothelial dysfunction. This systematic review and meta-analysis evaluated endothelial biomarkers as indicators of cardiovascular disease risk in thalassemia. A systematic search of PubMed, Scopus, and Embase identified 41 studies comparing biomarkers in thalassemia patients and healthy individuals. The biomarkers analyzed included ICAM-1, VCAM-1, E-selectin, P-selectin, von Willebrand factor (vWF), endothelial microparticles (EMPs), nitric oxide (NO), nitric oxide synthase (NOS), asymmetric dimethylarginine (ADMA), and endothelin-1 (ET-1). Using random effects modeling, pooled standardized mean differences (SMDs) and 95% confidence intervals (CIs) were calculated. The results showed significantly elevated levels of ICAM-1 (SMD 2.15, 95% CI: 1.09-3.22), VCAM-1 (SMD 2.50, 95% CI: 1.35-3.66), E-selectin (SMD 1.21, 95% CI: 0.92-1.50), P-selectin (SMD 1.62, 95% CI: 0.83-2.42), and ET-1 (SMD 1.23, 95% CI: 0.03-2.42) in thalassemia patients. However, NO, ADMA, and vWF showed no significant differences. No studies on NOS were identified, while only one study found significantly elevated EMPs in thalassemia patients. This review highlights ICAM-1, VCAM-1, E-selectin, P-selectin, and ET-1 as key biomarkers for cardiovascular complications in thalassemia. Further research on EMPs and NOS is essential to enhance the understanding of endothelial dysfunction in this population.

Keywords: biomarkers; cardiovascular diseases; endothelial dysfunction; thalassemia

DOI: https://doi.org/10.3390/ijms26083842