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Influence of Hemoglobin Strasbourg, a Rare High Oxygen Affinity Hemoglobin Variant, on Different Methods of HbA1c Measurement. 血红蛋白斯特拉斯堡(一种罕见的高氧亲和力血红蛋白变异体)对不同 HbA1c 测量方法的影响。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-08-05 DOI: 10.1080/03630269.2024.2360450
Marcus Wagner, Birgit Stoffel-Wagner, Berndt Zur

Hemoglobin Strasbourg is a rare high oxygen affinity hemoglobin variant which leads to secondary erythrocytosis. This variant is caused by a HBB gene mutation c.71T > A resulting in an amino acid exchange on position 23 of the β globin chain (p.Val23Asp.). The influence of Hb Strasbourg on HbA1c measurement has not been studied to date. For patients with hemoglobin variants it is important to know whether possible interferences exist with the measurement of HbA1c. We therefore investigated the influence of Hb Strasbourg on HbA1c measurement with two different HPLC (high-performance liquid chromatography) systems and one turbidimetric immunoassay in two non-diabetic brothers who are heterozygous carriers of Hb Strasbourg. The examined tests are all used in routine diagnostics. In the case of Hb Strasbourg, the HbA1c measured by HPLC showed lower results than those obtained by the immunoassay. We conclude that HbA1c is underestimated when measured with these methods as glycated Hb Strasbourg is most likely not co-eluting with HbA1c in HPLC.

斯特拉斯堡血红蛋白是一种罕见的高氧亲和力血红蛋白变异体,可导致继发性红细胞增多症。这种变异型是由 HBB 基因 c.71T > A 突变引起的,导致 β 球蛋白链第 23 位氨基酸交换(p.Val23Asp.)。迄今为止,尚未研究过斯特拉斯堡血红蛋白对 HbA1c 测量的影响。对于有血红蛋白变异的患者来说,了解 HbA1c 测量是否存在可能的干扰非常重要。因此,我们研究了斯特拉斯堡血红蛋白对两个非糖尿病兄弟 HbA1c 测量的影响,这两个兄弟是斯特拉斯堡血红蛋白杂合子携带者,他们使用了两种不同的 HPLC(高效液相色谱)系统和一种浊度免疫测定法。所检查的检测项目均用于常规诊断。就斯特拉斯堡血红蛋白而言,高效液相色谱法测量的 HbA1c 结果低于免疫测定法。我们的结论是,用这些方法测量的 HbA1c 被低估了,因为在 HPLC 中,糖化的 Hb Strasbourg 很可能不会与 HbA1c 共同凝集。
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引用次数: 0
A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient. 通过低通滤波全基因组测序在一名中国地中海贫血症患者体内发现涉及α-球蛋白基因簇的 165 Kb 重复。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 DOI: 10.1080/03630269.2024.2346143
Xiaohong He, Peirun Tian, Lijuan Zhong, Shanshan Peng, Shiping Chen, Lei Pan, Yutao Du, Rui Zhang

Copy number variations (CNVs) involving the α-globin gene cluster can lead to an imbalance in the proportion of α- and β-globin chains and consequently cause clinical symptoms of β-thalassemia. In our case, a 6-year-old boy, clinically diagnosed with β thalassemia intermedia, was admitted for further genetic diagnosis with his family. Targeted sequencing and third generation sequencing (TGS) were used to detect the possible variants of the thalassemia genes. Low-pass whole genome sequencing (lpWGS) was conducted to specify the exact location of relevant CNVs across the genome, which was then validated by multiplex ligation-dependent probe amplification.The results revealed that the patient had a heterozygous β0 mutation of Codon17 (A > T) and a full duplication of the α-globin gene cluster, inherited from his mother and father, respectively. Besides, a novel point mutation within the 5' untranslated region of β-Globin (HBB: c. -175 (G > A) was only detected in the patient. This study suggests that lpWGS seems a powerful alternative to detect large CNVs related to thalassemia with second intention for more information of the breakpoints and a simultaneous genome-scale detection of other pathogenic CNVs.

涉及α-球蛋白基因簇的拷贝数变异(CNV)可导致α-和β-球蛋白链比例失调,从而引起β地中海贫血的临床症状。在我们的病例中,一名 6 岁男孩被临床诊断为中型 β 地中海贫血症,他和家人一起入院接受进一步的基因诊断。我们采用了靶向测序和第三代测序(TGS)来检测地中海贫血基因的可能变异。结果显示,该患者的第 17 号密码子(A > T)发生了杂合性 β0 突变,α-球蛋白基因簇发生了全重复,这两个基因分别遗传自他的母亲和父亲。此外,仅在该患者体内检测到了β-球蛋白(HBB:c. -175 (G > A))5'非翻译区内的一个新的点突变。这项研究表明,lpWGS 似乎是检测与地中海贫血症有关的大型 CNVs 的一种强有力的替代方法,其第二目的是获得更多的断点信息,并同时在基因组范围内检测其他致病性 CNVs。
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引用次数: 0
Ameliorating Mental Health Issues in Sickle Cell Disease Patients: A Viewpoint. 改善镰状细胞病患者的心理健康问题:观点。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-09-27 DOI: 10.1080/03630269.2024.2356607
Ekta Rao, Deepika Patel, Nishant Saxena, Kalyan Brata Saha, Ravindra Kumar
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引用次数: 0
A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual. 一种导致中国人显性β-地中海贫血的新型 HBB 框状位移突变
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-08-05 DOI: 10.1080/03630269.2024.2376588
Cuili Yao, Long Chen, Jingting Ma, Na Li, Jiang Lin, Lina Huang, Yani Lin, Jun Xue

We reported a rare β-thalassemia patient, a 41-year-old Chinese male with small cell hypopigmentation anemia, jaundice and splenomegaly as the main clinical symptoms. By using Next-Generation Sequencing (NGS), we identified a novel de novo HBB mutation(c.358_365dup, p.Phe123Alafs*39) which resulted in an abnormally prolonged β-globin chain comprising 159 amino acid residues. The secondary and three-dimensional structures of the β-globin predicted that the novel prolonged β-globin chain has a considerable risk of instability in the hemoglobin, and leads to clinical phenotype. This study contributes to the enrichment of the genetic pathogenic mutation database for thalassemia and underscores the significance of NGS in the screening of mutations for thalassemia families.

我们报告了一名罕见的β地中海贫血患者,他是一名41岁的中国男性,主要临床症状为小细胞色素减退性贫血、黄疸和脾肿大。通过下一代测序(NGS),我们发现了一个新的HBB基因突变(c.358_365dup, p.Phe123Alafs*39),该突变导致β-球蛋白链异常延长,由159个氨基酸残基组成。β-球蛋白的二级和三维结构预测,新型延长的β-球蛋白链在血红蛋白中具有相当大的不稳定性风险,并导致临床表型。这项研究有助于丰富地中海贫血遗传致病基因突变数据库,并强调了 NGS 在地中海贫血家族基因突变筛查中的重要意义。
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引用次数: 0
ATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term Experience. ATG-甲状腺球蛋白与 ATG-费森尤斯在接受配型同胞捐献者异基因干细胞移植的地中海贫血患者中的调节作用:一个三级癌症护理中心的短期经验。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-09-05 DOI: 10.1080/03630269.2024.2398244
Reema Singh, Rohan Halder, Vinayak Hemant Gupta, Sujay Rainchwar, Niharika Bhatia, Varsha Mishra, Tribikram Panda, Pritish Chandra Patra, Narendra Agrawal, Dinesh Bhurani

Graft rejection and Graft-versus-host disease (GVHD) are some of the significant factors resulting in morbidity and mortality following allogeneic hematopoietic cell transplantation. Prophylaxis for GVHD using T-cell depleting agents is helpful in reducing the transplant-related mortality and graft rejection. Both tATG and fATG exhibit varied amounts of antibody specificities and perform distinct immunomodulatory effects, regardless of their capacity to deplete T-lymphocytes. We conducted this single-center, retrospective study at our center to compare both formulations. Twenty-six patients were included in the study, 13 in each cohort. The median age at diagnosis of β-thalassemia was 5 months (range, 3-12 months) in the tATG group and 6 months (range, 3-9 months) in the f-ATG group, respectively. Acute GVHD was observed in 1 (7.7) and 2(15.4) in the tATG and fATG group, respectively. No cases of chronic GVHD were observed in either group. There was no difference in the mixed chimerism observed at 6 months in both groups, tATG (n = 5, 38.5%) and fATG (n = 6, 46.15). There was 1 (7.6) rejection at day +72 observed in the tATG group, whereas no rejection was observed in the fATG group. At a mean follow-up duration of 288 days since transplant, there were no deaths in either of the groups. In conclusion, both ATG preparations showed equivalent effectiveness in preventing rejections and GVHD. However, further larger studies are required to establish the long-term efficacy and safety of both formulations in ASCT.

移植物排斥反应和移植物抗宿主病(GVHD)是异基因造血细胞移植后导致发病率和死亡率的一些重要因素。使用 T 细胞耗竭剂预防 GVHD 有助于降低移植相关死亡率和移植物排斥反应。tATG 和 fATG 都表现出不同的抗体特异性,并具有不同的免疫调节作用,而不管它们是否能消耗 T 淋巴细胞。我们在本中心开展了这项单中心回顾性研究,对两种制剂进行比较。研究共纳入 26 名患者,每组 13 人。tATG组和f-ATG组患者确诊β地中海贫血的中位年龄分别为5个月(3-12个月)和6个月(3-9个月)。tATG 组和 fATG 组分别有 1 例(7.7)和 2 例(15.4)观察到急性 GVHD。两组均未观察到慢性并发症。两组在6个月时观察到的混合嵌合体没有差异,tATG组(5例,38.5%)和fATG组(6例,46.15%)。tATG 组在第 +72 天观察到 1 例(7.6)排斥反应,而 fATG 组未观察到排斥反应。移植后平均随访 288 天,两组均无死亡病例。总之,两种ATG制剂在预防排斥反应和GVHD方面的效果相当。不过,要确定两种制剂在 ASCT 中的长期疗效和安全性,还需要进行更大规模的研究。
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引用次数: 0
A Review of Gene Therapies for Hemoglobinopathies. 血红蛋白病基因疗法综述。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-08-15 DOI: 10.1080/03630269.2024.2369534
Boubini Jones-Wonni, Amar H Kelkar, Maureen O Achebe

Due to the significant morbidity and mortality of hemoglobinopathies, curative options have long been pursued. The overall goal of gene therapy is to modify a patient's own hematopoietic stem cells to overcome the deleterious effects of the underlying genetic defect by gene addition, gene editing, or gene silencing. Gene addition incorporates genes with superior function than the abnormal gene; gene editing takes advantage of molecular tools such as zinc finger proteins, Transcription Activator-Like Effector Nucleases and Clustered Regularly Interspaced Short Palindromic Repeats coupled with Cas9 proteins (CRISPR-Cas9) which allow for sequence-specific breaks in DNA that disrupt gene function; and gene silencing suppresses gene expression by interference with mRNA transcription/protein translation or epigenetic modification. The majority of gene therapy strategies for hemoglobinopathies have targeted erythroid-specific BCL11A, a major regulator of fetal hemoglobin repression at the gamma-globin locus, in the normal fetal-to-adult hemoglobin switch that occurs shortly after birth. Other goals have involved the incorporation of anti-sickling globins, such as βT87Q or βAS3. Landmark clinical trials of gene therapy in transfusion-dependent thalassemia and sickle cell disease have shown remarkable efficacy and acceptable safety and culminated in recent regulatory approvals of gene therapy for both diseases in Europe and the United States.

由于血红蛋白病的发病率和死亡率都很高,人们长期以来一直在寻求治疗方案。基因治疗的总体目标是通过基因添加、基因编辑或基因沉默,改变患者自身的造血干细胞,以克服潜在基因缺陷的有害影响。基因添加是将功能优于异常基因的基因整合在一起;基因编辑是利用分子工具,如锌指蛋白、转录激活剂样效应核酸酶和Cas9蛋白(CRISPR-Cas9)偶联的簇状规则间隔短链色重复序列(Clustered Regularly Interspaced Short Palindromic Repeats coupled with Cas9 proteins),使DNA序列发生特异性断裂,从而破坏基因功能;基因沉默则是通过干扰mRNA转录/蛋白质翻译或表观遗传修饰来抑制基因表达。针对血红蛋白病的大多数基因治疗策略都以红细胞特异性 BCL11A 为靶点,BCL11A 是γ-球蛋白基因座上胎儿血红蛋白抑制的主要调节因子,在出生后不久就会发生胎儿到成人血红蛋白的正常转换。其他目标还包括加入抗镰状球蛋白,如βT87Q或βAS3。对输血依赖型地中海贫血症和镰状细胞病的基因疗法进行了具有里程碑意义的临床试验,结果表明疗效显著,安全性可接受,最近欧洲和美国的监管机构批准了这两种疾病的基因疗法。
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引用次数: 0
Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia. 冈比亚选定医疗机构的新生儿镰状细胞病护理点筛查。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-07-09 DOI: 10.1080/03630269.2024.2369523
Samuel Ademola Adegoke, Lamin Makalo, Adama Sallah, Horeja Saine, Sheikh Joof, Amie Conteh, Ramatoulie Bah, Adji Fatou Camara Jammeh, Matthew Bass, Mamadou Jallow, Obiageli Eunice Nnodu

Sickle cell disease (SCD) contributes significantly to childhood morbidity and mortality in sub-Saharan Africa. Early diagnosis through newborn screening (NBS) and subsequent comprehensive follow-up care will reduce the burden. Up till now, the prevalence of SCD among newborns remains unknown in The Gambia and there is no national NBS programme to address this significant public health issue. We assessed the real-time frequency of SCD in the country and determined differences in the pattern of SCD phenotypes among different ethnic groups. A preliminary prospective feasibility study was done in eight purposively selected hospitals in the seven Health Administrative Regions and Banjul. Consecutive newborn babies delivered or managed in these facilities were screened using HemoTypeSC, a sensitive and specific ELISA-based point-of-care test (POCT). Babies identified as SCD with HemoTypeSC were retested at age ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE). Head-to-head comparison between HemoType screening and gold standard HPLC could not be done. 1,168 newborn babies were screened from April 14 to August 12, 2023. Fifteen (1.3%) had homozygous HbS (HbSS), two (0.2%) heterozygous for HbS and HbC (HbSC), 204 (17.5%) had sickle cell trait (HbAS), four (0.3%) heterozygous for HbA and HbC (HbAC), and 943 (80.7%) had normal hemoglobin (HbAA). The 17 with SCD (HbSS and HbSC) comprised of 7 (2.2%) of 324 Fula; 6 (1.4%) of 426 Mandinka; 2 (1.6%) of 125 Jola and 2 (1.3%) of 150 Wolof. Fourteen (82.4%) of the 17 accepted the diagnosis and were enrolled into the SCD program. For these 14, HemoTypeSC had 100% sensitivity with ACAE when repeated at age ≥6 months. In addition to determining the real-time newborn prevalence of SCD and trait in The Gambia for the first time, this pilot study showed that SCD-POCT is feasible in Gambian health facilities.

镰状细胞病(SCD)是撒哈拉以南非洲地区儿童发病率和死亡率的重要原因。通过新生儿筛查(NBS)进行早期诊断以及随后的全面后续护理将减轻这一负担。迄今为止,冈比亚的新生儿 SCD 患病率仍然未知,也没有全国性的 NBS 计划来解决这一重大的公共卫生问题。我们评估了该国 SCD 的实时发病率,并确定了不同种族间 SCD 表型模式的差异。我们在七个卫生行政区和班珠尔特意挑选的八家医院进行了一项初步的前瞻性可行性研究。在这些医院分娩或接受管理的连续新生儿均接受了基于酶联免疫吸附试验(ELISA)的敏感性和特异性床旁检测(POCT)HemoTypeSC筛查。使用 HemoTypeSC 鉴定为 SCD 的婴儿在≥6 个月大时使用碱性醋酸纤维素血红蛋白电泳 (ACAE) 进行复测。无法对 HemoType 筛查和金标准 HPLC 进行正面比较。2023 年 4 月 14 日至 8 月 12 日,1168 名新生儿接受了筛查。其中 15 名(1.3%)患有同型 HbS(HbSS),2 名(0.2%)患有 HbS 和 HbC 杂合子(HbSC),204 名(17.5%)患有镰状细胞性状(HbAS),4 名(0.3%)患有 HbA 和 HbC 杂合子(HbAC),943 名(80.7%)血红蛋白正常(HbAA)。17 名 SCD(HbSS 和 HbSC)患者中,324 名富拉人中有 7 名(2.2%);426 名曼丁卡人中有 6 名(1.4%);125 名约拉人中有 2 名(1.6%);150 名沃洛夫人中有 2 名(1.3%)。17 人中有 14 人(82.4%)接受了诊断并加入了 SCD 计划。对于这 14 人,在他们≥6 个月大时再次进行血型分析,ACAE 的灵敏度为 100%。除了首次确定冈比亚新生儿 SCD 和特质的实时患病率外,这项试点研究还表明 SCD-POCT 在冈比亚医疗机构是可行的。
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引用次数: 0
A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. 丹麦裔新生儿通过全基因组测序确诊新β-地中海贫血症的罕见病例
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-07-09 DOI: 10.1080/03630269.2024.2335919
Stefni Ravichandran, Marianne Hoffmann, Jesper Petersen, Lene Sjø, Andreas Ørslev Rasmussen, Annetta Eidesgaard, Andreas Glenthøj

In 2020, a 2-month-old ethnically Danish girl was diagnosed with β-thalassemia after presenting with persistent jaundice. The peripheral blood smear showed significant aniso- and poikilocytosis, increased number of reticulocytes and erythroblastosis. Trio analysis of the index patient and both parents was performed by whole-genome sequencing. Here, both parents were found normal, however the analysis revealed an apparently de novo HBB:c.444A > C variant in the child. The child has recently been discharged three months after a successful bone marrow transplantation with a matched sibling-donor.

2020 年,一名 2 个月大的丹麦裔女孩因持续黄疸被诊断为 β 地中海贫血症。外周血涂片显示明显的异形和嗜碱性细胞增多、网状细胞数量增加和红细胞增多。通过全基因组测序,对患者及其父母进行了三重分析。结果发现,父母双方均正常,但分析结果显示,患儿体内存在一个明显的HBB:c.444A > C变异。最近,该患儿在与匹配的同胞供体成功进行骨髓移植三个月后出院。
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引用次数: 0
Thalidomide and Hydroxyurea in Transfusion-Dependent Thalassemia: Efficacy, Safety Profile and Impact on Quality of Life. 沙利度胺和羟基脲治疗输血依赖型地中海贫血症:疗效、安全性和对生活质量的影响。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-08-02 DOI: 10.1080/03630269.2024.2386076
Sukrita Bhattacharjee, Shouriyo Ghosh, Jyoti Shaw, Sunistha Bhattacharjee, Maitreyee Bhattacharyya

Transfusion-dependent thalassemia (TDT) is a major public health concern in India, requiring regular transfusions for survival. There is also significant morbidity caused by iron overload and transfusion related infections. Novel therapies targeting fetal hemoglobin induction are the need of the hour in resource-poor institutions for patients where transplant is not feasible for various reasons. This single arm, non-randomised prospective trial evaluated the efficacy and safety of a combination of low dose thalidomide and hydroxyurea in TDT along with the impact on quality of life (QoL). It included 41 TDT patients, who failed a reasonable trial of hydroxyurea. Complete response (CR) was defined as transfusion independence and partial response (PR) denoted at least a 50% reduction in transfusion requirement. The rest were defined as non-responders (NR). The mean age of the cohort was 20.78 years (range 12-45 years). There were 13 males and 28 females. Nineteen (46.3%), 7 (17.1%), and 15 (36.6%) patients achieved CR, PR, and no response respectively. The overall response rate (CR + PR) was 63.4%. There was a significant increase in hemoglobin levels with decrement in transfusion burden and ferritin levels. There were no significant adverse reactions. No significant predictors of response were found including amongst genetic modifiers. It improved the health related QoL amongst responders. The combination of thalidomide and hydroxyurea appear safe and effective in the reduction in transfusion requirement of TDT patients. The judicious use of these drugs can improve the quality of life and pave the way for patients not eligible for a stem cell transplant.

输血依赖型地中海贫血症(TDT)是印度的一大公共卫生问题,患者需要定期输血才能存活。铁超载和输血相关感染也会导致严重的发病率。对于因各种原因无法进行移植的患者,资源匮乏的医疗机构迫切需要以胎儿血红蛋白诱导为目标的新型疗法。这项单臂、非随机前瞻性试验评估了低剂量沙利度胺和羟基脲联合治疗 TDT 的疗效和安全性,以及对生活质量(QoL)的影响。该试验纳入了 41 名未能通过羟基脲合理试验的 TDT 患者。完全应答(CR)的定义是不需要输血,部分应答(PR)的定义是输血需求至少减少 50%。其余患者被定义为无应答者(NR)。组群的平均年龄为 20.78 岁(12-45 岁不等)。其中男性 13 人,女性 28 人。分别有 19 名(46.3%)、7 名(17.1%)和 15 名(36.6%)患者达到 CR、PR 和无应答。总体反应率(CR + PR)为 63.4%。血红蛋白水平明显上升,输血负担和铁蛋白水平下降。没有出现明显的不良反应。没有发现明显的反应预测因素,包括基因修饰因子。该疗法改善了应答者的健康相关生活质量。沙利度胺和羟基脲联合用药在减少 TDT 患者的输血需求方面似乎安全有效。合理使用这些药物可提高生活质量,并为不符合干细胞移植条件的患者铺平道路。
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引用次数: 0
Secretory Phospholipase A2 Levels Are High in Women with Sickle Cell Disease and Menstruation-Induced Vaso-Occlusive Crises. 患有镰状细胞病和月经诱发血管闭塞性危象的女性体内分泌型磷脂酶 A2 水平较高。
IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-05-01 Epub Date: 2024-07-03 DOI: 10.1080/03630269.2024.2371887
Lukman Ibrahim, Dalha Haliru Gwarzo, Aminu Abba Yusuf

Menstruation-induced vaso-occlusive crisis (MIVOC) is a significant cause of morbidity in women with sickle cell disease (SCD). Secretory phospholipase A2 (sPLA2) is an inflammatory biomarker that is elevated in vaso-occlusive events such as acute chest syndrome (ACS), but its role in MIVOC is not previously studied. This study compared the serum level of sPLA2 among women with MIVOC and those without MIVOC. This is a comparative cross-sectional study. 354 women with SCD were screened for MIVOC using a structured questionnaire. sPLA2 levels were assayed using a standard ELISA while full blood counts were performed on an automated hematology analyzer. Data were analyzed using the SPSS software v26.0. Results were summarized as frequencies, percentages, and mean ± standard deviation. Variables were compared using the Student's t-test and Pearson's correlation. A p-value of <.05 was considered significant. The prevalence of MIVOC was 26.8%. Participants with MIVOC (n = 95) had significantly lower mean hemoglobin concentration (8.00 ± 2.03g/dL vs. 9.95 ± 4.15g/dL, p < .000), significantly higher mean platelets count (518.71 ± 84.58 × 109/L vs 322.21 ± 63.80 × 109/L, p < .000) and higher sPLA2 level (6.58 ± 1.94 IU vs 6.03 ± 0.42 IU, p = .008) compared to those without MIVOC (n = 95). Among participants with MIVOC, sPLA2 levels positively correlated with total white blood cell, absolute neutrophil, and lymphocyte counts. This study demonstrates that MIVOC is common among women with SCD and that the pathophysiology of MIVOC may have an inflammatory basis similar to that of ACS. The potential role of anti-inflammatory and antiplatelet agents in preventing and treating MIVOC may be explored.

月经诱发的血管闭塞危象(MIVOC)是镰状细胞病(SCD)女性患者发病的一个重要原因。分泌型磷脂酶 A2(sPLA2)是一种炎症性生物标志物,在急性胸部综合征(ACS)等血管闭塞性事件中会升高,但其在 MIVOC 中的作用尚未得到研究。本研究比较了患有 MIVOC 和未患有 MIVOC 的女性血清中 sPLA2 的水平。这是一项横断面比较研究。采用标准酶联免疫吸附法测定 sPLA2 水平,同时使用全自动血液分析仪进行全血细胞计数。数据使用 SPSS 软件 v26.0 进行分析。结果汇总为频率、百分比和平均值 ± 标准偏差。变量比较采用学生 t 检验和皮尔逊相关性检验。与无 MIVOC 的参与者(n = 95)相比,有 MIVOC 的参与者的平均血红蛋白浓度明显较低(8.00 ± 2.03g/dL vs. 9.95 ± 4.15g/dL,p 9/L vs 322.21 ± 63.80 × 109/L,p vs 6.03 ± 0.42 IU,p = .008)。在患有 MIVOC 的参与者中,sPLA2 水平与白细胞总数、中性粒细胞绝对数和淋巴细胞计数呈正相关。这项研究表明,MIVOC 在患有 SCD 的妇女中很常见,而且 MIVOC 的病理生理学可能具有与 ACS 相似的炎症基础。抗炎药物和抗血小板药物在预防和治疗 MIVOC 方面的潜在作用值得探讨。
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