American journal of blood research最新文献

{"title":"Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.","authors":"Sara Ferrer-Benito, María Ordoñez, Amanda Bermejo, Jorge M Martínez, Belén Ortega, Fernando A González, Ana Villegas, Celina Benavente, Paloma Ropero","doi":"10.62347/PSSD1758","DOIUrl":"10.62347/PSSD1758","url":null,"abstract":"<p><p>We report a novel α-globin gene variant, hemoglobin (Hb) Móstoles, characterized by a single nucleotide substitution in the HBA2 gene [α2 58(E7) His > Arg; HBA2:c.176A>G], associated with a 3.7-kb deletion in the homologous chromosome. This variant was identified in a Moroccan family living in Spain. The proband, a four-year-old girl, presented with microcytosis and hypochromia. The abnormal Hb was maternally inherited and detected in two of the proband's four siblings, while the 3.7-kb deletion was paternally inherited. Hb analysis using high-performance liquid chromatography and capillary electrophoresis revealed an abnormal peak in the Hb S region, with a concentration of approximately 3%. Hematological parameter assessment of the four carriers demonstrated that, despite being a structural hemoglobinopathy, Hb Móstoles is associated with an alpha-thalassemia phenotype and may exacerbate clinical manifestations when coexisting with other <i>HBA1</i> and <i>HBA2</i> mutations.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 3","pages":"47-56"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute myolysis in patients on tyrosine kinase inhibitor therapy for chronic myeloid leukemia.","authors":"Jeffrey H Lipton","doi":"10.62347/COLY8536","DOIUrl":"10.62347/COLY8536","url":null,"abstract":"<p><p>Patients on tyrosine kinase inhibitor therapy for chronic myeloid leukemia are often found to have elevated creatinine kinase levels on routine bloodwork and are asymptomatic. Here we report 4 cases of significant acute symptomatic jumps in levels with associated rhabdomyolysis that resolved with drug cessation. Etiology of the acute jumps is not known and this finding does not appear to be related to any one specific tyrosine kinase inhibitor, as 4 different tyrosine kinases were involved.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 3","pages":"57-60"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A systematic review of ABCG8 mutation and sitosterolemia.","authors":"Deevyashali Parekh, Ali Bassir, Devashish Desai, Prashanth Ashok Kumar, Krishna Ghimire","doi":"10.62347/PJQO4776","DOIUrl":"10.62347/PJQO4776","url":null,"abstract":"<p><strong>Background: </strong>Sitosterolemia is a rare inherited condition caused by elevated levels of plant sterols in the plasma, characterized by mutations in ABCG5 and ABCG8 genes. A scarce occurrence in this condition are hematological abnormalities such as hemolytic anemia, stomatocytosis, and macrothrombocytopenia. We conducted a meta-analysis and systematic review to answer these questions regarding patients who have hemolytic anemia and ABCG8 mutation.</p><p><strong>Methods: </strong>13 reports were shortlisted for the final analysis (Observational studies-6, case series-4, case reports-3). Descriptive statistics were utilized to study the patient characteristics.</p><p><strong>Results: </strong>From the 13 reports that we found in available literature, we identified 19 cases of ABCG8 mutation and anemia. From the random-effects proportions model, the chance of this event occurring among patients with sitosterolemia was 6.8% [0.068, 95% Confidence Interval (CI) 0.016-0.120, P=0.010] (I² 24.68%) (14/145). Thrombocytopenia and stomatocytosis were frequently reported. Splenomegaly and xanthomas were other common associations.</p><p><strong>Conclusions: </strong>To the best of our knowledge, we provide the first report of the prevalence of anemia, specifically in patients with sitosterolemia caused by a mutation in the ABCG8 gene. At 6.8%, this is an extremely rare occurrence in an already infrequent disease.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 3","pages":"40-46"},"PeriodicalIF":0.0,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12267072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemoglobin, white blood cell, mean platelet volume, C reactive protein, and their association with overweight/obesity among adolescents: a multicenter cross-sectional study.","authors":"Walaa M Alsafi, Ola A El-Gendy, Ahmad I Al-Shafei, Ahmed A Hassan, Ishag Adam","doi":"10.62347/BAJT2700","DOIUrl":"10.62347/BAJT2700","url":null,"abstract":"<p><strong>Objectives: </strong>Recently, hematological parameters such as hemoglobin, white blood cell (WBC), mean platelet volume (MPV), and C-reactive protein (CRP) have received more attention as predictors of overweight/obesity among adolescents. We aimed to investigate the association between hemoglobin, WBC, MPV, and CRP and overweight/obesity among adolescents in two regions of Sudan: River Nile State in the north and Gadarif in the east.</p><p><strong>Methods: </strong>A multicenter community - based cross-sectional study was conducted from September 2022 to October 2023. A questionnaire was used to collect sociodemographic data. Weight, height, hematological parameters, and CRP were measured using standard procedures. Multivariate multinomial analysis was performed.</p><p><strong>Results: </strong>A total of 738 adolescents (male: 325 [44.0%], female: 413 [56.0%]) were recruited. The median (interquartile, [IQR]) age was 14.8 (13.1-16.3) years. Of the total, 492 (66.7%), 151 (20.5%), and 95 (12.9%) were normal, underweight, and overweight/obese, respectively. In multivariate multinomial analysis, increasing WBC and increasing hemoglobin have shown a progressive increase in the overweight/obese group (adjusted odds ratio [AOR] = 1.08, 95% confidence interval [CI] 1.01-1.16) and (AOR = 1.27, 95% CI 1.06-1.53), respectively. Compared with females, males were at higher risk of being underweight (AOR = 2.77, 95% 1.86-4.12).</p><p><strong>Conclusion: </strong>This study indicates that the identified hematological predictors, specifically WBC and hemoglobin levels, can be helpful indicators for predicting overweight and obesity in adolescents in Sudan.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 2","pages":"20-30"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decreased neutrophil oxidative burst activity in children with failure to thrive - a pilot study.","authors":"Saumya Jindal, Richa Gupta, Pooja Dewan, Mrinalini Kotru, Priyanka Gogoi, Priyank Doodani","doi":"10.62347/CIUH6314","DOIUrl":"10.62347/CIUH6314","url":null,"abstract":"<p><strong>Introduction: </strong>Failure to thrive (FTT) refers to failure of expected weight gain, striking lack of well-being and inadequate physical growth in children. The causes vary with geographical and socio-economic factors. In developed countries, FTT is usually a symptom of an underlying disease, often a gastrointestinal or neurological disorder. However, in developing countries, FTT is often associated with inadequate caloric intake and malnutrition. Such children are at an increased risk of infections and infection-related mortality which may be related to altered immune responses. Rarely some Primary immunodeficiencies (PIDs) can manifest as FTT. Not much data regarding neutrophil functions in these children is available.</p><p><strong>Objectives: </strong>The present study aimed to analyse the functional activity of neutrophils in children with FTT using a highly sensitive and specific flow cytometry-based assay.</p><p><strong>Methods: </strong>25 children with FTT (up to 5 years) and 25 healthy controls were assessed for haematological parameters and neutrophil oxidative burst activity by DHR Assay using Flow cytometry.</p><p><strong>Results: </strong>Compared to controls, the cases had significantly lower haemoglobin, hematocrit, RBC count and MCHC but a higher eosinophil count (<i>P<0.0001</i>). On flow cytometry, the Neutrophil Oxidative Index (NOI) was significantly reduced in cases (<i>P<0.0001</i>). 1 of 25 cases (4%) showed no change in neutrophil fluorescence after stimulation, suggesting the presence of CGD, which was later confirmed with molecular assay revealing a CYBB mutation.</p><p><strong>Conclusions: </strong>To conclude, children with FTT have a decreased Neutrophil Oxidative Burst, suggesting defective killing of pathogens by phagocytes. Also, the presence of CGD should be ruled out in such children.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 2","pages":"31-39"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chimeric antigen receptor modified T cells directed against CD19 (CTL019) in patients with relapsed, refractory CLL: a systematic review and meta-analysis.","authors":"Mohammad Amin Karimi, Motahareh Rouhparvarzamin, Reza Kahdemi, Parisa Alsadat Dadkhah, Narges Karimi, Parisa Nasiri, Arash Azizinezhad, Aseman Mashhadian, Haleh Alizadeh, Faezeh Arghidash, Pooyan Valizadegan, Shayan Ehsani Ziary, Ata Akhtari Kohnehshahri, Kamyar Feyzi, Omid Salimi, Seyed Hadi Hashemi, Mohammad Sadra Gholami Chahkand, Yaser Khakpour, Melika Arab Bafrani, Niloofar Deravi","doi":"10.62347/WDWE6603","DOIUrl":"10.62347/WDWE6603","url":null,"abstract":"<p><strong>Objectives: </strong>Chronic lymphocytic leukemia (CLL) is a hematologic malignancy characterized by the excessive production of lymphocytes in the bone marrow. One of the emerging therapeutic strategies for CLL is chimeric antigen receptor (CAR) T-cell therapy, wherein T-cells are genetically modified to recognize and target cancer cells more effectively. The present study aims to systematically compare the therapeutic impact of high-dose versus low-dose status of CAR T-cell therapy targeting CD19 (CART-19) in patients with relapsed or refractory CLL.</p><p><strong>Methods: </strong>To identify relevant studies, a comprehensive literature search was conducted in PubMed, Scopus, and Web of Science databases up to April 2023. The primary outcome measures included treatment response rates, assessed as complete response (CR) and partial response (PR), and toxicity, as indicated by the incidence of cytokine release syndrome (CRS). Additionally, sensitivity and bias analyses were performed to evaluate the robustness of the findings.</p><p><strong>Results: </strong>Four randomized controlled trials (RCTs) comprising 89 patients with relapsed or refractory CLL met the inclusion criteria. Comparison of treatment response rates between high-dose and low-dose CART-19 therapy demonstrated a significantly higher complete and partial response rate in the high-dose group (SMD [95% CI]: 1.02 [0.10, 1.94]; P<0.05). However, no significant association was observed between CTL019 dosage and the incidence of CRS (P>0.05).</p><p><strong>Conclusion: </strong>This meta-analysis suggests that high-dose CART-19 is associated with improved response rates and survival outcomes in patients with CLL compared to low-dose therapy. However, due to variability in study results, further large-scale, well-designed trials are required to establish the optimal therapeutic dosing strategy for CART-19 therapy in CLL.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 2","pages":"9-19"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The etiology of chronic splanchnic vein thrombosis in adults: a two-center analysis.","authors":"Esin Oguz Kozan, Gizem Isguzar, Enver Ucbilek, Serkan Yaras, Emel Gurkan, Orhan Sezgin, Mehmet Ali Sungur, Anil Tombak","doi":"10.62347/NMIJ8301","DOIUrl":"10.62347/NMIJ8301","url":null,"abstract":"<p><p>Portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS) are rare vascular disorders with both well-recognized and less commonly identified etiologies.</p><p><strong>Objectives: </strong>This study aims to investigate the etiologies of portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS), thereby enhancing improving early detection and management strategies for these conditions. A retrospective review was undertaken to identify the etiologies of PVT and BCS.</p><p><strong>Methods: </strong>A detailed clinical evaluation was performed and all underlying diseases, such as MPD, and related conditions (e.g. surgery) associated with thrombosis were recorded.</p><p><strong>Results: </strong>The study comprised a total of 73 patients, with 58 diagnosed with PVT and 15 with BCS. Of these patients, 56 (76.7%) had at least one underlying disease. The most prevalent underlying diseases in patients with PVT were cirrhosis (32/58, 55.2%), myeloproliferative disease (3/58, 5.2%), malignancy (4/58, 6.9%), and rheumatological conditions (4/58, 6.9%). For BCS, 11/15 patients (73.3%) had at least one predisposing condition, including cirrhosis in six cases. Congenital causes were identified in 16/58 cases of PVT (27.6%), in 7/15 cases of BCS (46.7%). Thirty-two patients had previously undergone gastrointestinal surgery (PVT 24/58, BCS 8/15); surgery was the sole etiology in 15/73 patients (20.5%). Homocysteinemia was common (PVT 20/58, BCS 5/15). A multitude of rare etiologies were identified, including paroxysmal nocturnal haemoglobinuria, Crohn's disease, nephrotic syndrome, drug therapies, pregnancy, JAK2 mutation, and elevated factor VIII or fibrinogen.</p><p><strong>Conclusions: </strong>The presence of a wide range of diverse frequent-infrequent etiologies of congenital or acquired splanchnic vein thrombosis in this cohort underscores the necessity for the implementation of appropriate diagnostic strategies in a broad spectrum of at-risk patients.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"15 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11929025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143690382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The functional connotations of iron deficiency-effect on neutrophil oxidative burst activity in preschool children.","authors":"Shweta Dutt, Poonam Rani, Richa Gupta, Pooja Dewan, Mrinalini Kotru","doi":"10.62347/TSPM9335","DOIUrl":"10.62347/TSPM9335","url":null,"abstract":"<p><p>Iron deficiency anaemia (IDA) makes an individual prone to bacterial infections. The antimicrobial defence mechanism of neutrophils is orchestrated by Nicotinamide Adenine Dinucleotide Phosphate Hydrogen (NADPH) oxidative burst which is iron-dependent. The few previous studies documenting a decrease in neutrophil oxidative burst in iron-deficient children have been based mainly on the Nitro blue tetrazolium test (NBT). Very few studies have been conducted using the more robust flow cytometry-based dihydro rhodamine (DHR) assay in this regard worldwide and none in India.</p><p><strong>Aim: </strong>To estimate the effect of iron deficiency on neutrophil oxidative burst activity in children under 5 years of age by flow cytometry-based dihydro rhodamine (DHR) assay and compare it with the control group.</p><p><strong>Methods: </strong>Thirty-six children between 6 months to 5 years of age diagnosed with moderate (Hb 7-10 gm/dl) to severe (Hb <7 gm/dl) iron deficiency anaemia were selected as cases with equal number of sex/age matched controls. The peripheral blood was analyzed for hematological and biochemical parameters such as complete iron profile, serum vitamin B12, and folate levels. The oxidative burst activity of neutrophils in peripheral blood was assessed using a flow-cytometry-based Dihydrorhodamine (DHR) assay.</p><p><strong>Results: </strong>The percentage of neutrophils showing stimulation, Mean Fluorescence Index in stimulated neutrophils, and Neutrophil oxidative index (NOI) were significantly reduced in iron deficiency anaemia patients as compared to controls. In cases, haemoglobin showed significant positive correlation with NOI and percentage of neutrophils showing stimulation.</p><p><strong>Conclusion: </strong>To conclude, a significant decrease in neutrophil oxidative burst parameters depicts an insufficient innate immune response to pathogens and makes Iron deficiency anaemia patients more susceptible to infections, further aggravated by the severity of anaemia.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"14 4","pages":"22-31"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11751373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143027419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heparin-induced thrombocytopenia-II in hospitalized patients with surgery or deep vein thrombosis.","authors":"Narges Gomar, Tahereh Abbasi Garavand, Fatemeh Amiri, Alireza Goodarzi, Sayed Payam Hashemi","doi":"10.62347/JMFO7582","DOIUrl":"10.62347/JMFO7582","url":null,"abstract":"<p><strong>Objectives: </strong>Heparin-induced thrombocytopenia (HIT) is clinically the most relevant non-hemorrhagic complication of heparin, which is associated with the increased risk of thrombosis and mortality. This study was conducted to determine platelet activation in HIT-II in hospitalized patients with surgery or deep vein thrombosis (DVT). The clinical outcomes of the patients was also assayed.</p><p><strong>Methods: </strong>In this descriptive/cross-sectional study, 754 heparin-receiving-hospitalized patients with surgery or DVT were evaluated for the incidence of thrombocytopenia 7 days after heparin therapy. Clinical assessment 4Ts and ELISA for heparin-platelet factor 4 (HPF4) antibodies were performed to diagnose HIT-II. Production of platelet microparticles (PMPs), soluble P-selectin (sP-selectin), IL-1, IL-6, and tumor necrosing factor-α (TNF-α) were evaluated in the HIT suspected patients.</p><p><strong>Results: </strong>The frequency of HIT-II was 4.50%. More HIT-II was diagnosed in the elder patients (P = 0.008) and female (P = 0.005). Thrombosis rate was higher in the HIT-II (P = 0.0001). More PMPs, sP-selectin, IL-1, IL-6, and TNF-α was detected in the HIT-II patients. The length of hospital stay was significantly different in HIT-II (P = 0.015). Mortality rate of the HIT-II patients was higher than non-HIT ones (P = 0.0007).</p><p><strong>Conclusion: </strong>Platelet activation in the HIT-II patients mediated more thrombosis formation. It was associated with the increased length of hospital stay and mortality.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"14 3","pages":"14-21"},"PeriodicalIF":0.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11578861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Synonymous variant of TLR7 at restriction site rs864058 identified in Covid 19 Pakistani patients.","authors":"Beenish Khalid, Sadia Farukh, Ashokh Kumar, Saeeda Baig, Moazzam Ali Shahid","doi":"10.62347/YSKN6673","DOIUrl":"10.62347/YSKN6673","url":null,"abstract":"<p><strong>Background: </strong>TLR7, the receptor accountable for immune response to RNA viruses, has been studied extensively to identify its variants related to the severity of Covid-19 in different populations worldwide. However, the genotype of Pakistani population is still unknown. This study aimed to determine the TLR7 genotypes and their relation with severity in our population.</p><p><strong>Methods: </strong>This cross sectional study collected data on 151 Covid-19 positive patients (aged 18-80 years), from June 2022 to May 2023, after an informed consent, from Ziauddin University and Hospital. Prior to that approval from ethics review committee was taken. The demographic variables and comorbidities were recorded along with health status till LAMA (Leave Against Medical Advise), recovery or death. The DNA was extracted from collected blood samples, PCR and Sanger sequencing was done for identification of TLR7 variants. SPSS was used for data analyses and Chi-Square for categorical variables. <i>P</i>-values of <0.05 was considered significant.</p><p><strong>Results: </strong>Out of 151 patients' sequencing was done for 59 samples. The restriction site, rs864058 of TLR7 gene, identified G/A and G/G variants. This missense variant of TLR7 identified at rs864058 of TLR7 gene, has not been previously reported in population control databases. The genotype G/G was main variant of 49 (83%) patients, whereas, G/A was found in 10 (17%). Majority, 25 (51%) of patients with mild covid-19 had GG genotype but results were not significant (P=0.684). Among female patients the main genotype was GA 8 (80%) while male had G/G 29 (59.2%) with significant results (P=0.024). Since G/G genotype was the major genotype, high percentage was found in hypertensives [20 (40.8%)], Diabetics [13 (26.5%)], depression [24 (49%)] and pneumonia patients [20 (40.8%)]. However, significant association (P=0.023) was only found with pneumonia. Males, in majority had severe [17 (68%)] infection and death [40 (26.4%)], whereas, females had mild [14 (25%)] with [12 (7.9%)] deaths.</p><p><strong>Conclusion: </strong>A variant rs864058 \"G/A\" of TLR7, in relation to covid-19 were found in our population. Males were found more at risk of morbidity and mortality due to covid-19. Larger studies are required to further confirm these results.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"14 2","pages":"6-13"},"PeriodicalIF":0.0,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11411202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142278963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}