Transfusion Medicine and Hemotherapy最新文献

{"title":"Risk Factors and Outcomes of Stem Cell Mobilization Failure in Multiple Myeloma Patients.","authors":"Te-Lin Hsu,&nbsp;Chun-Kuang Tsai,&nbsp;Chun-Yu Liu,&nbsp;Chiu-Mei Yeh,&nbsp;Fen-Lan Lin,&nbsp;Liang-Tsai Hsiao,&nbsp;Yao-Chung Liu,&nbsp;Hao-Yuan Wang,&nbsp;Po-Shen Ko,&nbsp;Ting-An Lin,&nbsp;Wen-Chun Chen,&nbsp;Po-Min Chen,&nbsp;Jin-Hwang Liu,&nbsp;Jyh-Pyng Gau,&nbsp;Chia-Jen Liu","doi":"10.1159/000525565","DOIUrl":"https://doi.org/10.1159/000525565","url":null,"abstract":"<p><strong>Introduction: </strong>Autologous hematopoietic stem cell transplantation (ASCT) is a well-established treatment for patients with multiple myeloma (MM), and adequate stem cell collection must be assured before ASCT. However, prediction of poor mobilizers (PMs) is still difficult despite several risk factors for mobilization failure having been identified.</p><p><strong>Methods: </strong>We retrospectively analyzed MM patients at Taipei Veterans General Hospital in Taiwan who underwent stem cell collection between October 2006 and August 2020. A CD34⁺ cell collection of <1 × 10⁶ cells/kg was defined as a mobilization failure. The primary endpoint was mobilization failure. The secondary endpoint was overall survival (OS). Odds ratios (ORs) and 95% confidence intervals (CIs) for mobilization failure were calculated using a logistic regression model. The cumulative incidence of mortality was estimated using the Kaplan-Meier method.</p><p><strong>Results: </strong>In the multivariate analysis, absolute monocyte count <500/µL (adjusted OR 10.75, 95% CI: 1.82-63.57, <i>p</i> = 0.009), platelet count <150,000/µL (adjusted OR 12.49, 95% CI: 2.65-58.89, <i>p</i> = 0.001) before mobilization, and time interval from diagnosis to stem cell harvest ≥180 days (adjusted OR 7.69, 95% CI: 1.61-36.87, <i>p</i> = 0.011) were risk factors for PMs. PM patients had poorer OS compared to patients with successful stem cell collection in the univariate analysis (log-rank test <i>p</i> = 0.027). The predicted probability of PMs was estimated by the multiple logistic regression model with a sensitivity of 84.6% and a specificity of 84.0%.</p><p><strong>Conclusion: </strong>Absolute monocyte count <500/µL, platelet count <150,000/µL, and treatment duration more than 180 days before stem cell mobilization are risk factors for unsuccessful stem cell collection. Our prediction models have high sensitivity and specificity for mobilization failure prediction and allow for early interventions for possible PMs.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/04/93/tmh-0050-0039.PMC9912005.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10756723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PharmaNews","authors":"","doi":"10.1159/000529216","DOIUrl":"https://doi.org/10.1159/000529216","url":null,"abstract":"«Mit dem Innovationsforum Schmerzmedizin der Deutschen Gesellschaft für Schmerzmedizin e.V. (DGS) geben wir insbesondere Allgemeinmedizinern, Internisten, Orthopäden, Neurologen, Anästhesisten und Schmerzmedizinern die Möglichkeit, ihr Fachwissen zu vertiefen und neue Impulse für ihre tägliche Arbeit zu erhalten», so DGS-Präsident Dr. Johannes Horlemann. Die Hämophilie ist ein neues Thema der jährlich stattfindenden Fortbildungsveranstaltung. «Schmerzen werden bei dieser seltenen Erkrankung unzureichend erfasst und behandelt. Darauf wollen wir aufmerksam machen», erklärte Horlemann. Bei der Hämophilie treten spontane innere Blutungen, meist in den Gelenken (80%) auf. Akute Schmerzen – verbunden mit Schwellungen und Bewegungseinschränkungen – sind die Folge. Wiederholte Blutungen können Entzündungsreaktionen, Knorpeldegenerationen und Gelenkdeformationen bedingen. Diese sogenannte hämophile Arthropathie kann wiederum zu chronischen Schmerzen führen. Mittels Prävention, Physiotherapie, Sport, Medikamenten, individueller Schmerztherapie oder auch mit einem chirurgischen Eingriff als letzte Option, lassen sich die Schmerzen wirksam behandeln. Durch eine prophylaktische Substitution von Gerinnungsfaktoren – angepasst an die Lebenssituation der Patient*innen – kann zudem das Auftreten der hämophilen Arthropathie deutlich verzögert und abgemildert werden. Horlemanns Appell: «Wir Schmerzmediziner sollten die Patient*innen niemals aufgeben, sondern uns intensiv um sie bemühen und intensiv mit Hämophiliebehandlern zusammenarbeiten.»","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42519785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Blood Groups on Clinical Presentations and Treatment Outcomes in Immune Thrombotic Thrombocytopenic Purpura Patients with Severe ADAMTS13 Deficiency: A Multi-Center Experience.","authors":"Murat Yıldırım,&nbsp;Selim Sayın,&nbsp;Ahmet Kürşad Güneş,&nbsp;Merih Reis Aras,&nbsp;Esra Safak Yılmaz,&nbsp;Murat Albayrak,&nbsp;Gülsüm Özet,&nbsp;Meltem Aylı","doi":"10.1159/000524597","DOIUrl":"https://doi.org/10.1159/000524597","url":null,"abstract":"<p><strong>Introduction: </strong>Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by accumulation of ultra-large von Willebrand factor (vWF) due to the significantly reduced activity ADAMTS13. Limited studies have been published examining the blood group as an epidemiological factor that can contribute to development of TTP. It has been suggested that due to low vWF levels, the distribution of the \"O\" blood group among TTP patients may be lower than anticipated compared to the blood group distribution rates in the normal population. The aim of this study was to explore the relationship between blood groups and the clinical outcome of immune TTP (iTTP).</p><p><strong>Methods: </strong>Thirty patients with iTTP with severe ADAMTS13 deficiency were enrolled. Data collection commenced in January 2011 and was completed by June 2020. It was analyzed whether there was a difference between the blood groups in terms of frequency of iTTP, response to treatment, frequency of relapse, and clinical and laboratory results.</p><p><strong>Results and conclusions: </strong>The distribution of group \"A\" among patients with iTTP was higher than expected. Although not statistically significant, patients with blood group \"O\" required more TPE for the treatment and relapse rate was statistically higher than other blood groups. Mortality rate in all patients was 6.7%. Although blood group \"A\" is a risk factor for iTTP, the frequency of relapse is higher in the blood group \"O.\"</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b5/48/tmh-0050-0018.PMC9912004.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10763921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Throughput Next-Generation Sequencing of the Kidd Blood Group: Unexpected Antigen Expression Properties of Four Alleles and Detection of Novel Variants.","authors":"Stephanie M Vorholt,&nbsp;Veronika Lenz,&nbsp;Burkhard Just,&nbsp;Jürgen Enczmann,&nbsp;Johannes C Fischer,&nbsp;Peter A Horn,&nbsp;Thomas A Zeiler,&nbsp;Vera Balz","doi":"10.1159/000525326","DOIUrl":"https://doi.org/10.1159/000525326","url":null,"abstract":"<p><strong>Background: </strong>The blood supply for patients with foreign ethnic backgrounds can be challenging, as they often have blood group and HPA patterns that differ from the variants prevalent in the German population. In addition, hemoglobinopathies requiring regular blood transfusion may be more common in such populations. High-throughput genotyping tests can facilitate the identification of the most compatible blood products, thereby reducing the risk of transfusion reactions. The present study reports the results of a molecular study for the Kidd (JK) blood group. Allele frequencies and antigen prevalence data are presented for >8,000 individuals of various origins.</p><p><strong>Material and methods: </strong>More than 8,000 blood donors were genotyped for 22 blood group systems and 5 HPA genes using an amplicon-based next-generation sequencing (NGS) approach. As part of the test system, we focused on the JK system in more detail. Double-ARMS PCR analysis was performed for the haplotype phasing of the <i>JK1/JK2</i> and two more common synonymous polymorphisms. We performed transcript analysis to detect potential alternative splice products. For a subset of samples, a comparison between serotype and red cell genotype was conducted. Allele frequencies were determined for geographically different panels of individuals.</p><p><strong>Results: </strong>We successfully genotyped the JK blood group for 99.6% of the samples. Haplotype phasing revealed 96 different alleles. For several alleles that carry one of the synonymous SNVs c.588A>G and c.810G>A, we could not confirm the reported JK phenotypes. We found a higher frequency of JK:1 alleles for all populations except Iraqis. <i>JK</i>*<i>01W.01</i> alleles were more common in the Asian groups and sub-Saharan Africans. A variant of the allele <i>JK</i>*<i>02N.01</i> was present exclusively in Southeast Asians.</p><p><strong>Conclusion: </strong>Genotyping for JK antigens with a targeted NGS assay can easily be performed in routine. The interpretation that c.588A>G leads to a weak phenotype and c.810G>A to a null phenotype is questionable. IDs as well as the descriptions of alleles carrying these SNVs should be revised in the ISBT JK table.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10756727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Front & Back Matter","authors":"","doi":"10.1159/000529509","DOIUrl":"https://doi.org/10.1159/000529509","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48005356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factor XIII in the Acute Care Setting and Its Relevance in Obstetric Bleeding.","authors":"Patricia Duque,&nbsp;Wolfgang Korte","doi":"10.1159/000526489","DOIUrl":"https://doi.org/10.1159/000526489","url":null,"abstract":"<p><strong>Background: </strong>Major hemorrhage is one of the main causes of preventable mortality in either severe trauma, high-risk surgical patient, or the obstetric population. As underlined by the cell-based coagulation model, a resistant and stable clot is essential to prevent or to stop an ongoing bleeding. Coagulation factor XIII (FXIII) stabilizes the newly formed clot by cross-linking the fibrin monomers into a three-dimensional network and by impeding fibrinolysis. Thus, FXIII is an essential coagulation factor in the acutely bleeding patient.</p><p><strong>Summary: </strong>Acquired FXIII deficiency is much more common than the inherited form. On the basis of acute tissue injury which leads to major bleeding, acquired FXIII deficiency is traditionally considered to be secondary to consumption. However, recent evidence in the field of obstetrics and high-risk surgery suggests that it might be an associated factor rather than a consequence of the bleeding, which would mean that early replacement of FXIII could potentially improve outcomes. However, FXIII measurement is not universally available. Assessing FXIII through viscoelastic assays seems feasible, though likely it is not yet accurate. Moreover, the target population at risk and the aimed FXIII level required to achieve hemostasis in each condition are yet to be defined.</p><p><strong>Key messages: </strong>FXIII should be assessed and replaced if necessary in the acutely bleeding patient. We recommend FXIII to be included in an escalating scheme of hemostatic therapies in the acute care setting.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/95/69/tmh-0050-0010.PMC9912001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10756725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postpartum Hemorrhage: A Rising Problem Requiring to Think Out of the Box.","authors":"Christian Haslinger,&nbsp;Wolfgang Korte","doi":"10.1159/000528958","DOIUrl":"https://doi.org/10.1159/000528958","url":null,"abstract":"","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/0c/tmh-0050-0001.PMC9911987.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10763924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotyping and Genotyping of HNA: Prevalence, Risk of Alloimmunization, and HNA Incompatibilities in Indians.","authors":"Harita Gogri,&nbsp;Meghana Parihar,&nbsp;Swati Kulkarni,&nbsp;Manisha Madkaikar,&nbsp;Jayashree Sharma,&nbsp;Ajit Gorakshakar","doi":"10.1159/000525654","DOIUrl":"https://doi.org/10.1159/000525654","url":null,"abstract":"<p><strong>Background: </strong>Antibodies to human neutrophil alloantigens (HNA) are involved in the pathophysiology of several clinical conditions including transfusion-related acute lung injury (TRALI), alloimmune and autoimmune neutropenia, and febrile nonhemolytic transfusion reactions leading to neutropenia. The cognate antigens are polymorphic structures expressed on several glycoproteins on the neutrophils, i.e., antigens HNA-1a, -1b, -1c, and -1d on Fc-γ-receptor IIIb; HNA-2 on CD177; HNA-3a and -3b on choline transporter-like protein 2; HNA-4a and -4b on CD11b/αM subunit of the αMβ2-integrin (CD11b/CD18, Mac-1, CR3); and HNA-5a and -5b on αL-subunit (CD11a) of the αLβ2 integrin (CD11a/CD18), leukocyte function associated molecule (LFA)-1. Currently, there is a lacuna of diagnostic methods for detection of HNA in India. This study aimed to determine the HNA frequencies in Indians, estimate the risk of alloimmunization, and prepare typed neutrophil panels, which can be used to detect HNA antibodies in neutropenia cases.</p><p><strong>Material and methods: </strong>EDTA blood samples were collected from random 1,054 blood donors. HNA-2 was phenotyped on fresh EDTA samples using FITC labelled monoclonal anti-CD177 by flowcytometry. HNA-1 (<i>FCGR3B</i>) genotyping was carried out by DNA sequencing and PCR-RFLP. Antigens of HNA-3 (<i>SLC44A2</i>) and HNA-5 (<i>ITGAL</i>) were genotyped by PCR-RFLP using <i>TaqαI</i> and <i>Bsp1286I</i> restriction enzymes, respectively, while HNA-4 (<i>ITGAM</i>) was genotyped by PCR-SSP.</p><p><strong>Results: </strong>Allele frequencies of <i>FCGR3B</i>*<i>01</i>, <i>FCGR3B</i>*<i>02</i>, and <i>FCGR3B</i>*<i>03</i> were found to be 0.433, 0.444, and 0.087, respectively. FCGR3B*01+*02+*03- was the most common genotype (33.78%). Ten individuals showed deficiency of FCGR3B individuals, while 23 showed hyperexpression, i.e., <i>FCGR3B</i>*<i>01+</i>*<i>02+</i>*<i>03+</i>. <i>FCGR3B</i>*<i>04</i>and *<i>05</i> occurred with a frequency of 0.002 and 0.024. HNA-2 was found to be a high frequency antigen occurring in 98.8% population. Four percent individuals showed atypical expression of CD177 on their neutrophils. Allele frequencies of <i>SLC44A2</i>*<i>01</i> and <i>SLC44A2</i>*<i>02</i>were 0.812 and 0.188, respectively, and that of <i>ITGAM</i>*<i>01</i>, <i>ITGAM</i>*<i>02</i>, <i>ITGAL</i>*<i>01</i>, and <i>ITGAL</i>*<i>02</i> were 0.9546, 0.0454, 0.2372, and 0.7628, respectively.</p><p><strong>Conclusion: </strong>This is the first study in India to report the frequencies of HNA among blood donors. Typed neutrophil panels identified in the present study will enable us to investigate suspected cases of immune neutropenia in future.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a2/3a/tmh-0050-0030.PMC9911994.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10756726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Invasive Zinc Protoporphyrin Screening Offers Opportunities for Secondary Prevention of Iron Deficiency in Blood Donors.","authors":"Anne Schliemann,&nbsp;Christian Homann,&nbsp;Georg Hennig,&nbsp;Alexander Lang,&nbsp;Lesca Miriam Holdt,&nbsp;Michael Vogeser,&nbsp;Ronald Sroka,&nbsp;Herbert Stepp,&nbsp;Franz Weinauer,&nbsp;Ernst-Markus Quenzel","doi":"10.1159/000528545","DOIUrl":"https://doi.org/10.1159/000528545","url":null,"abstract":"<p><strong>Background: </strong>Frequent blood donors are at high risk of developing iron deficiency. Currently, there is no potent screening during blood donation to detect iron deficient erythropoiesis (IDE) before anemia develops and deferral from donation is inevitable.</p><p><strong>Study design and methods: </strong>In addition to capillary and venous hemoglobin, the iron status of 99 frequent blood donors was assessed by various venous blood parameters and zinc protoporphyrin IX (ZnPP). ZnPP was determined by high-performance liquid chromatography (HPLC) and a new prototype fiber-optic device was employed for non-invasive measurements of ZnPP through the blood collection tubing (NI-tubing) and on lip tissue (NI-lip). We aimed to evaluate the feasibility and diagnostic value of the NI-tubing measurement for early detection of severe iron deficiency in blood donors.</p><p><strong>Results: </strong>NI-tubing and HPLC reference measurements of ZnPP showed narrow limits of agreement of 12.2 μmol ZnPP/mol heme and very high correlation (Spearman's Rho = 0.938). Using a cutoff of 65 μmol ZnPP/mol heme, NI-tubing measurements (<i>n</i> = 93) identified 100% of donors with iron deficiency anemia (IDA) and an additional 38% of donors with IDE. Accordingly, NI-tubing measurements would allow detection and selective protection of particularly vulnerable donors.</p><p><strong>Conclusion: </strong>NI-tubing measurements are an accurate and simple method to implement ZnPP determination into the routine blood donation process. ZnPP was able to identify the majority of subjects with IDE and IDA and might therefore be a valuable tool to provide qualified information to donors about dietary measures and adjustments of the donation interval and thereby help to prevent IDA and hemoglobin deferral in the future.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0a/6f/tmh-0050-0303.PMC10521216.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41161613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Lutheran Blood Groups and Genetic Variants within <i>KLF1</i> among Thai Blood Donors.","authors":"Kamphon Intharanut,&nbsp;Piyathida Khumsuk,&nbsp;Oytip Nathalang","doi":"10.1159/000528654","DOIUrl":"https://doi.org/10.1159/000528654","url":null,"abstract":"<p><strong>Background: </strong>Lu^a and Lu^b are inherited as codominant allelic characters resulting from a single nucleotide variant (SNV) of the basal cell adhesion molecule (<i>BCAM</i>) gene. Red cells of the dominantly inherited suppressor of the Lutheran antigens In(Lu) phenotypically appear as Lu(a-b-) by the haemagglutination test. In(Lu) resulted from heterozygosity for mutations within the erythroid-specific Krüppel-like factor 1 (<i>KLF1</i>) gene. This study aimed to determine the frequency of the Lu(a) and Lu(b) phenotypes and genotypes and genetic variants of the distinct In(Lu) among Thai blood donors.</p><p><strong>Material and methods: </strong>Samples from 334 Thai donors were phenotyped with anti-Lu^a and anti-Lu^b. These DNA samples and an additional 1,370 donor DNA samples with unknown Lu(a)/Lu(b) phenotypes were genotyped using an in-house PCR-SSP. In the case of the three Lu(a-b-) donors, the <i>BCAM</i> and <i>KLF1</i> genes were analysed by PCR and sequencing.</p><p><strong>Results: </strong>A total of 331 of the 334 donors were Lu(a-b+), while the other observed phenotype, appearing as Lu(a-b-), was found among three donors. Of those three Lu(a-b-) donors with the <i>LU</i>*<i>02</i>/<i>02</i> genotype, we identified <i>KLF1</i> variant alleles, consisting of two variants: c.[304T>C, 1001C>G] and c.[304T>C, 519_525dupCGGCGCC], leading to the In(Lu) phenotype, and one homozygous variant (c.304T>C) mutation. Also, only one Thai donor was genotyped as <i>LU</i>*<i>01</i>/<i>02</i>, confirmed by serology test and DNA sequencing.</p><p><strong>Conclusion: </strong>In this study, we identified <i>KLF1</i> variants to be included in Lutheran typing analysis in Thai populations. Therefore, the application of genotyping and phenotyping methods has simultaneously been in use to screen and confirm the rare Lu(a+) and In(Lu) phenotypes.</p>","PeriodicalId":23252,"journal":{"name":"Transfusion Medicine and Hemotherapy","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/fd/tmh-0050-0313.PMC10521248.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}