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PubMed2026

Low Prevalence of the HBB c.20A > T (HbS) Allele in a Turkish Cypriot Cohort: A Molecular Screening Study.

Sickle cell disease is caused by the HBB c.20A > T (p.Glu6Val; HbS) variant. Although Cyprus has a long-standing hemoglobinopathy prevention program, current population-specific data on HbS among Turkish Cypriots remain limited. Two hundred unrelated Turkish Cypriot adults were included. The HBB c.20A > T variant was genotyped by PCR-RFLP and confirmed by allele-specific real-time PCR. Genotype distribution was evaluated for Hardy-Weinberg equilibrium. No homozygous HbS genotype was detected. Three individuals were heterozygous carriers (AS), corresponding to a carrier frequency of 1.5%. The HbS allele frequency was 0.7%, and the genotype distribution was consistent with Hardy-Weinberg equilibrium (p = 0.916; chi-square = 0.011). HbS was uncommon in this Turkish Cypriot cohort. These findings support continued hemoglobinopathy surveillance and the integration of HbS counseling into existing premarital and population screening strategies, particularly as migration may alter local carrier frequencies over time.

Humans↗
PubMed2026

Prevalence and risk factors of red blood cell alloimmunization among sickle cell disease patients in resource-limited countries: A systematic review and meta-analysis.

BACKGROUND: Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by hemoglobin S production, in which homozygous individuals (HbSS) develop a broad range of acute and chronic complications. While disease-modifying and curative therapies are increasingly available in high-income settings, red blood cell (RBC) transfusion remains the mainstay of treatment in resource-limited countries and is associated with high rates of alloimmunization. This systematic review and meta-analysis aimed to estimate the prevalence of alloimmunization and identify associated risk factors among patients with SCD living in resource-limited settings. METHODS: Africa Journals Online (AJOL), Embase, PubMed, Scopus, and Web of Science were searched for original studies published from inception to December 15, 2025. Only studies conducted in low- and lower-middle-income countries (LMICs) were included. Eligible studies evaluated the prevalence of alloimmunization in patients with SCD receiving RBC transfusions. A random-effects meta-analysis of proportions was performed to pool quantitative data, while qualitative findings were systematically summarized in tabular form. Statistical heterogeneity was assessed using the I² statistic and further explored using Baujat plots, leave-one-out analyses, and meta-regression. RESULTS: Our analysis included 27 studies conducted in Africa (n = 23) and Asia (n = 4), predominantly from lower-middle-income countries (n = 19) and mainly employing a cross-sectional design (n = 20), comprising 3128 previously transfused patients with SCD. The pooled prevalence of RBC alloimmunization was 8.76% (95% CI: 6.71-11.37%; I² = 75%). Higher alloimmunization rates were observed in West and North Africa, particularly in Côte d'Ivoire, Egypt, and Nigeria, whereas lower rates were reported in Asia and East Africa. The most frequently identified antibodies belonged to the Rh blood group system (n = 153), followed by the Kell system (n = 65). CONCLUSION: In resource-limited settings, RBC alloimmunization is a frequent and clinically significant complication in patients with SCD, contributing to increased morbidity and potential mortality. Targeted and economically viable antigen matching may reduce alloimmunization rates and improve transfusion safety in LMICs.

Humans↗
PubMed2026

Plasma Proteome Signatures in Sickle Cell Anemia and the Effect of Hydroxyurea Treatment.

Sickle Cell Anaemia (SCA) is a monogenic blood disorder caused by a mutation in the β-globin gene, yet it presents with marked clinical variability. Although hydroxyurea (HU) is an established therapy, its precise mechanism of action remains incompletely understood. Plasma proteins represent valuable biomarkers for elucidating disease mechanisms and treatment responses. In this study, plasma proteome profiling of 31 healthy controls and 76 SCA patients identified 43 differentially abundant proteins (DAPs) that form a highly interconnected interaction network. Proteins with increased abundance in SCA were largely associated with immune and inflammatory responses, whereas those with reduced levels were linked to coagulation and proteolytic pathways. HU therapy was associated with elevated levels of haptoglobin (HP) and hemopexin (HPX), key mediators of free hemoglobin scavenging. We also identified several previously unreported plasma proteins altered in SCA, broadening the landscape of potential biomarkers and HU-responsive targets. Many DAPs significantly correlated with clinical indices, such as transfusion frequency, vaso-occlusive crises, white blood cell counts, and platelet counts, offering insights into disease mechanisms and potential utility in disease management. Notably, overlap with β-thalassemia-associated signatures suggests shared pathophysiological pathways between these hemoglobinopathies. Collectively, these findings provide a strong foundation for translational validation in larger, independent cohorts.

Humans↗
PubMed2026

Human vascular pythiosis: pathogenesis, diagnosis, and evidence-informed management.

SUMMARYHuman vascular pythiosis is a rare, life-threatening angioinvasive infection caused predominantly by the oomycete Pythium insidiosum. Unlike ocular or cutaneous pythiosis, the vascular form is defined by arterial wall invasion, long-segment thrombosis, limb ischemia, aneurysmal complications, and high risks of amputation and death. Although P. insidiosum is broadly distributed in freshwater environments, reported human vascular disease remains concentrated in Thailand, indicating that exposure alone is insufficient for disease development. Available evidence supports a multifactorial model centered on repeated freshwater exposure and host susceptibility, particularly hemoglobinopathies and iron dysregulation, while the rarity of comparable vascular disease elsewhere remains unexplained. Because vascular-specific mechanistic data are limited, evidence from animal pythiosis, nonvascular human disease, environmental studies, genomic analyses, and experimental models must be interpreted selectively and linked explicitly to vascular pathogenesis, diagnosis, or management. Infection usually begins at sites of skin disruption after freshwater exposure and progresses through soft tissue and perivascular planes into the arterial wall. Longitudinal intramural extension, rather than typical hematogenous dissemination, explains long-segment arterial occlusion, proximal progression, and relapse after incomplete source control. Diagnosis requires early suspicion, serology, vascular imaging, and tissue-based confirmation. Management depends on prompt and complete surgical removal of infected arterial tissue, supported by adjunctive protein-synthesis-inhibiting antibacterial therapy, particularly when residual disease is suspected. Conventional antifungals have limited activity, and Pythium antigen immunotherapy remains historically important but of uncertain independent benefit. Earlier recognition, better surgical-margin assessment, standardized diagnosis, and prospective treatment data are needed.

P. insidiosum↗
PubMed2025

Mechanisms of Globin Gene Regulation in Mammals.

Studies of globin gene clusters have established many paradigms of gene regulation. This review focuses on the α- and β-globin gene clusters of humans and mice, summarizing important insights from high-throughput biochemical assays and directed genetic dissections and emphasizing similarities across the types of gene clusters and between species. The overall arrangements and architectures are similar, with each gene cluster being localized within a topologically constrained unit of chromatin containing a multicomponent enhancer (i.e., a locus control region) and other regulatory elements bound by a similar set of transcription factors and coactivators. Differential expression of the globin genes within each cluster during ontogeny is associated with changes in contacts with the locus control region and involves the action of gene-specific repressors. Detailed study of the fetal β-like HBG1 and HBG2 globin genes has revealed a remarkable diversity of regulatory pathways that provide candidates for therapeutic approaches to reactivate these genes for β-hemoglobinopathies.

Animals↗
PubMed2026

Nanoplate Digital PCR for Identification of α0-Thalassemia (SEA Deletion): Carrier Screening and Possible Application to Prenatal Diagnosis.

The Southeast Asian deletion (--SEA), the most prevalent &#x3b1;0-thalassemia mutation in Southeast Asia, is a major target of regional thalassemia prevention programs. Coinheritance of &#x3b1;0-thalassemia with other hemoglobinopathies, particularly hemoglobin E (Hb E), complicates routine hematological screening and requires reliable molecular confirmation. This study developed and validated a duplex nanoplate digital polymerase chain reaction (dPCR) assay for simultaneous identification of the wild-type &#x3b1;-globin and --SEA deletion alleles in a single reaction. The assay was established on the QIAcuity nanoplate platform and evaluated using 171 blinded leftover DNA specimens from individuals with Hb E. Diagnostic performance was compared with conventional gap-PCR. Distinct fluorescence amplitude patterns enabled discrimination among normal, heterozygous, and homozygous --SEA genotypes in a single closed tube. Among the 171 specimens, 70 were identified as --SEA carriers and 101 as non-carriers, showing 100% concordance with gap-PCR. All subjects with Hb E + A2 levels &#x2265; 25% were negative for the --SEA deletion, whereas 56.0% of those with levels < 25% carried the deletion. In the representative prenatal case, duplex dPCR accurately identified parental carrier status and a homozygous --SEA fetus. This assay provides an accurate and practical molecular confirmatory assay for thalassemia screening and prenatal diagnosis in Southeast Asia.

Humans↗