Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/ß-thalassemia prenatal genetic counseling.

The study aimed to identify essential phenotype-modulating factors among the pre-existence of several important ones and clarify their measurable impact on the clinical severity of hemoglobin (Hb) E/ß-thalassemia in a community-recruited population analysis. This prospective study was designed to compare modifiers between community- (less or no symptoms) and hospital-recruited individuals with Hb E/ß-thalassemia. The formerly included couples previously assessed for prenatal thalassemia at-risk status at 42 community and 7 referral hospitals in Thailand through on-site investigations between June 2020 and December 2021. The control included Hb E/ß-thalassemia patients undergoing transfusions. The Mahidol score classified disease severity. Beta-globin, α0-thalassemia (-SEA, -THAI), α+-thalassemia (-α3.7, -α4.2), Hb Constant Spring (αCS) alleles, rs766432 in BCL11A, rs9399137 in HBS1L-MYB, and rs7482144-XmnI were evaluated. Modifiers were compared between 102 community- and 104 hospital-recruited cases. Alleles of ß+, -SEA, -α3.7, αCS, and a minor allele of rs9399137 were prevalent in the community and mild severity groups (p < 0.05). Multiple linear regression analysis associated modulating alleles with -4.299 (-SEA), -3.654 (ß+), -3.065 (rs9399137, C/C), -2.888 (αCS), -2.623 (-α3.7), -2.361 (rs7482144, A/A), -1.258 (rs9399137, C/T), and -1.174 (rs7482144, A/G) severity score reductions (p < 0.05). Certain modifiers must be considered in routine prenatal genetic counseling for Hb E/ß-thalassemia.

Multiple Venous and Pulmonary Artery Thrombosis as the Presenting Features of Spontaneously Reversible Nephrotic Syndrome after Exposure to SARS-CoV-2 Virus (Pfizer/BioNTech BNT162b2) Vaccination.

We report an unusual case of nephrotic syndrome and multiple venous thromboembolism (VTE) four days after BNT162b2 injection. The patient presented with a three-day history of foamy urine and one-day history of right leg swelling. The investigation showed 9.5 g of 24 hr urine protein, hypoalbuminemia (2.6 gm/dL), and hypercholesterolemia (320 mg/dL). The duplex ultrasonography revealed VTE of the right lower extremity veins (common femoral vein, saphenous vein, and popliteal vein). Computed tomography (CT) showed thrombosis of the infrarenal inferior vena cava (IVC) extending to both iliac veins and acute pulmonary embolism. Kidney biopsy was performed. The diagnosis of minimal change disease was made. The patient received anticoagulation without steroid or immunosuppressive medications. The nephrosis was spontaneously resolved in 20 days; thus, it strongly suggested the diagnosis of vaccine-induced minimal change nephropathy. Reports of kidney adverse events and clinical characteristics are further needed in the circumstances of worldwide SARS-CoV-2 vaccine usage.