中国实验血液学杂志最新文献

Objective: To investigate the reasons for the weak expression of RHCE gene in a patient whose mimicking anti-Ce combined with anti-Jkb caused cross-matching non-combination.

Methods: ABO, Rh, and Kidd blood group antigens were identified by test tube method and capillary centrifugation. Antibody screening and antibody specificity identification were performed using saline, polybrene and antiglobulin in tri-media association with multispectral cells. RHCE gene sequencing and haploid analysis were performed by multiplex PCR technique and RHCE protein modeling was performed using Swiss-Model.

Results: The serum of the patient contained anti-Ce mimicking autoantibodies along with anti-Jkb antibodies. c.48G>C, c.150C>T, c.178C>A, c.201A>G, c.203A>G, and c.307C>T mutations were detected in the RHCE triple-molecule sequencing. A 109 bp insertion sequence was found in intron 2, with fragment loss from intron 5-8. The Rh-group genotype was DCe/DCe , and phenotype was CCDee.

Conclusion: Genotyping techniques can assist in deducing the molecular mechanisms of some weakly expressed RhC, c, E, and e in patients' sera to aid in the identification of difficult antibodies and thus ensure the safety of patients' blood transfusion.

Objective: To explore the therapeutic efficacy and prognostic factors of induction therapy for secondary central nervous system lymphoma (SCNSL).

Methods: Clinical data of patients diagnosed with SCNSL from 2010 to 2021 at Guangdong Provincial People's Hospital were retrospectively collected. A retrospective cohort study was performed on all and grouped patients to analyze the efficacy and survival. Multivariate logistic regression analysis was used to explore the adverse prognostic factors.

Results: Thirty-seven diffuse large B-cell lymphoma patients with secondary central involvement were included in the research. Their 2-year overall survival (OS) rate was 46.01% and median survival time was 18.1 months. The 2-year OS rates of HD-MTX group and TMZ group were 34.3% and 61%, median survival time were 8.7 and 38.3 months, and median progression-free survival time were 8.1 and 47 months, respectively. Multivariate logistic regression analysis showed that age, sex, IPI, Ann Arbor stage were correlated with patient survival time. The median survival time of patients with CD79B, KMT2D, CXCR4, ERBB2, TBL1XR1, BTG2, MYC, MYD88, and PIM1 mutations was 8.2 months, which was lower than the overall level.

Conclusion: HD-MTX combined with TMZ as the first-line strategy may improve patient prognosis, and early application of gene sequencing is beneficial for evaluating prognosis.

Objective: To summarize the clinical features of reversible posterior encephalopathy syndrome (PRES) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children.

Methods: The clinical data of six children who developed PRES after undergoing allo-HSCT in the Department of Hematology of Wuhan Children's Hospital from June 2016 to December 2022 were retrospectively analyzed, and their clinical characteristics, imaging examination, laboratory examination, and treatment regression were summarized.

Results: Among 281 children underwent allo-HSCT, 6 cases (2.14%) developed PRES, with a median age of 5.1(1.5-9.7) years old. 4 cases underwent related haploidentical donor transplantation, and 2 cases underwent sibling allografting and unrelated donor allografting donor transplantation, respectively. All six children had an acute onset of illness, with clinical manifestations of nausea and vomiting, seizures, psychiatric disorders, visual disturbances. The five cases elevated blood pressure. All children with PRES were treated with oral immunosuppressive drugs during seizures, and 3 cases were combined with different degrees of graft-versus-host disease. Most of the children showed effective improvement in clinical symptoms and imaging after adjusting/discontinuing suspected medications (cyclosporine, etc.) and symptomatic supportive treatments (oral antihypertensive, diazepam for antispasmodic, mannitol to lower cranial blood pressure), and one of them relapsed more than 8 months after the first seizure.

Conclusion: PRES is rare after hematopoietic stem cell transplantation in children, and its onset may be related to hypertension, cytotoxic drugs, graft-versus-host disease, etc. Most of them can be recovered after active treatment, but not completely reversible, and the prognosis of those who combined with TMA is poor.

Objective: To explore the application value of reticulocyte hemoglobin equivalent (Ret-He) for diagnosing latent iron deficiency in female plateletpheresis donors.

Methods: A total of 230 female plateletpheresis donors in Fujian Blood Center from January to February 2022 were selected as the research group and divided into three groups: normal group, iron depletion (ID) group and iron deficient erythropoiesis (IDE) group, according to the severity of iron deficiency. The level of hemoglobin (HGB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), coefficient of variation of red cell distribution width (RDW-CV) and Ret-He were measured by using the Sysmex XN automated hematology analyzer. Chemiluminescence immunoassay was used to detect iron biochemical indexes. Receiver operating characteristic(ROC) curve analysis was performed to evaluate the diagnosic value of relevant indicators in female blood donors with latent iron deficiency.

Results: Ret-He in ID group was 32.55 (31.15,33.10)pg, which was significantly lower than that in the normal group ［33.80(32.73，34.70)pg］ （P <0.05）, and significantly higher than that in IDE group ［30.40(28.70,31.50)pg］ （P <0.05）. ROC analysis in diagnosis of IDE demonstrated that the area under the curves (AUCs) of HGB, MCV, MCH, RDW-CV and Ret-He were 0.892, 0.843, 0.909, 0.890, 0.931, respectively. When the critical value of Ret-He was 32.05 pg, its sensitivity and specificity were 85.90% and 92.60%, respectively. However, all red blood cell parameters had poor diagnostic value for ID.

Conclusion: Ret-He is a perfect predictor for latent iron deficiency in female blood donors. Detection of Ret-He can advance the diagnosis of iron deficiency in female blood donors to the IDE stage.

Objective: To investigate the frequencies and subset distribution of peripheral helper (Tph) T cells in patients with immune thrombocytopenia (ITP), and explore the pathogenesis of ITP.

Methods: A total of 25 newly diagnosed ITP patients treated in The Second Affiliated Hospital of Dalian Medical University from January to December 2022 were selected, and 25 healthy volunteers (age- and sex-matched) were recruited as the control group. Flow cytometry was used to detect the subsets of CD4⁺ T cells and Tph cells.

Results: The frequency of effector memory (CCR7^- CD45RO⁺CD4⁺) T cells in ITP patients was significantly higher than that in healthy controls(P < 0.05). The frequency of Tph cells in ITP patients was also significantly higher than that in healthy controls (P < 0.001), and most of the Tph cells in ITP patients were effector memory T cells. Furthermore, the expressions of T-cell costimulatory molecules in Tph cells, including ICOS and CD84, were similar to those in follicular helper T(Tfh) cells. CXCR3 ^- CCR6 ^-Tph (Tph2) subgroup was dominant in Tph cells, but the frequency of CXCR3⁺CCR6^- Tph (Tph1) cells in ITP patients was much higher than that in healthy controls (P < 0.05).

Conclusion: Tph cells, especially Tph1 cells, were abnormally expanded in ITP patients, which may be a potential etiology of ITP.

Objective: To explore and analyze the incidence rate, influencing factors and impact on prognosis of pulmonary hypertension (PH) in patients with Philadelphia chromosome negative myeloproliferative neoplasms (Ph^- MPNs).

Methods: The clinical data of 271 patients with Ph^- MPNs were retrospectively analyzed, and different disease subtypes were classified. Patients with different disease types were further divided into PH⁺ and PH^- groups according to whether HP occurred. Statistical methods were used to analyze the incidence rate, risk factors, and impact on prognosis of PH in Ph^- MPNs patients.

Results: The overall incidence rate of PH among 271 patients was 26.9%, and according to the classification of disease subtypes, it was found that the incidence rate of PH in patients with primary myelofibrosis (PMF) was significantly higher than those of patients with polycythemia vera and essential thrombocythemia (both P <0.05). Multivariate regression analysis showed that advanced age, long disease course, JAK2 positive and increased hematocrit, lactate dehydrogenase, monocyte count, and uric acid level were independent risk factors for PH in Ph^- MPNs patients (OR >1, P <0.05), and there were some differences in the independent risk factors between different disease subtypes. Survival analysis results showed that the overall survival (OS) rate of PH⁺ patients was significantly lower than that of PH^- patients in other types except for PMF (all P <0.05).

Conclusion: The incidence rate of PH in Ph^- MPNs patients is high, and its risk factors are diverse. The OS rate of Ph^- MPNs patients with PH is low. Therefore, we should be highly alert to the occurrence of PH in Ph^- MPNs patients clinically.

Objective: To investigate the characteristics of thalassemia gene types in children in Liuzhou, Guangxi.

Methods: A total of 822 children suspected thalassemia aged from 1 day to 14 years who were admitted to our hospital from January 2019 to April 2022 were collected. Gap-PCR and PCR combined with reverse dot blot hybridization were used to detect α- and β-thalassemia genes.

Results: Among 822 children, 561 thalassemia carriers were detected, with a detection rate of 68.25%. Among them, 303 cases were detected with α-thalassemia, and the most common genotype was --^.SEA/αα (163 cases), followed by -α^3.7/αα (37 cases) and α^CSα/αα (26 cases), 44 cases with HbH disease. 240 cases were detected with β-thalassemia, with a detection rate of 29.20%, and the most common genotype was β^.CD41-42/β^N. (112 cases), followed by β^.CD17/β^N. (75 cases) and β ^IVS-II-654/β^N. (11 cases), 11 cases with moderate to severe β-thalassemia. 18 cases were detected with αβ-thalassemia, with a detection rate of 2.19%, and --^.SEA/αα complex β^.CD41-42/β^N. was the most common genotype (4 cases). In Zhuang and Han populations, the detection ratio of -α^3.7α/αα in α-thalassemia was the same (both 12.50%). While, the other main types such as --^.SEA/αα, α^CSα/αα and -α^4.2α/αα had certain differences. In β-thalassemia, CD41-42 and CD17 were the main genotypes detected in Han and Zhuang.

Conclusion: In Liuzhou of Guangxi autonomous region, α-thalassemia is the main type in children, with a detection rate of 68.25%, and --^.SEA/αα is the most common genotype in mild thalassemia, followed by β^.CD41-42/β^N.. The detection rate of moderate to severe α- and β-thalassemia is relatively high. There are certain differences in the distribution of thalassemia among different ethnic groups.

Objective: To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou, enhance the database of thalassemia.

Methods: Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022. Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes. DNA sequencing was performed in samples suspected of rare genotypes.

Results: A total of 16 171 subjects were identified as thalassemia carriers, and the positive rate was 44.41% (16 171/36 412). The genotypes of 114 cases (0.31%) were rare. A total of 10 845 cases were identified as α-thalassemia carriers (29.78%), and --^SEA/αα was the most common genotype in those people, followed by -α^3.7/αα and -α^4.2/αα. A total of 4 531 subjects were identified as common β-thalassemia carriers (12.44%). The most common β-thalassemia mutation in the population was β^41-42./β^N., followed by β⁶⁵⁴/β^N. and β^-28/β^N.. A total of 681 subjects were identified as αβ thalassemia carriers (1.87%), among them --^SEA/αα compounded with β^CD41-42./β^N. was the most common genotype. A total of 48 cases were identified as rare α-thalassemia carriers, 14 types of mutations, in which Fusion gene/αα was the most common. A total of 52 cases were identified as rare β-thalassemia carriers, 11 types of mutation, in which β^SEA-HPFH/β^N. was the most common.

Conclusion: The thalassemia genotypes in Huadu district are complex and diverse. We should attach great importance to the detection of rare thalassemia genotypes.

Multiple myeloma (MM) is a malignant hematological tumour for which pharmacological treatments such as protease inhibitors, immunomodulators, and steroids are commonly used, but most MM cases still relapsed or become refractory. Autophagy is a type 2 cell death mechanism that plays a key role in MM progression, including biphasic regulation that promotes MM cell survival or facilitates its death. In this paper, we review the changes of MM cells' autophagic activity and its effect on cell proliferation and apoptosis during drug action, aiming to analyse the role of autophagy pathway in drug treatment of MM and provide relevant ideas for targeting autophagy in the treatment of MM.