中国实验血液学杂志最新文献

Objective: To investigate the positive rate, mutation type and distribution characteristics of thalassemia gene detection in children in Nanchong area.

Methods: The common α and β-thalassemia gene mutation sites were detected in 1 254 children suspected of thalassemia by hematological screening in our hospital from January 2017 to December 2023, and the genotypes, detection rates and clinical characteristics of thalassemia in local children were statistically analyzed.

Results: Among 1 254 children with suspected thalassemia, 490 carriers were screened out, with a positive detection rate of 39.07%. Among them, 220 cases (17.54%) were α-thalassemia, 251 cases (20.02%) were β-thalassemia, and 19 cases (1.52%) were αβ compound thalassemia. Among 220 cases of α-thalassemia, the main genotypes were --^SEA/αα, - α^3.7/ αα, - α^3.7/--^SEA and - α^4.2 / αα, accounting for 63.64%, 18.64%, 5.91%, and 5.00%, respectively. Among 251 cases of β-thalassemia, CD17, CD41-42, and IVS-II-654 genotypes were the most common, accounting for 40.24%, 29.88%, and 17.93%, respectively. In 19 cases of αβ compound thalassemia, the most common genotypes were - α^3.7/ αα compound CD41-42, --^SEA/ αα compound CD41-42, --^SEA/ αα compound CD17 , accounting for 26.32%, 15.79%, and 15.79%, respectively. In addition, compared with healthy individuals, red blood cell (RBC) in the thalassemia gene carriers was significantly increased, while hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell distribution width-standard deviation (RDW-SD) were significantly decreased (all P < 0.01). The ROC curve analysis showed that the area under the curve (AUC) of RDW-SD, MCHC, MCH, MCV, Hb and RBC were 0.827, 0.707, 0.823, 0.863, 0.603 and 0.882, respectively. The thalassemia gene carrying rates from 2017 to 2023 in Nanchong were 35.6% (54/154), 28.43% (56/197), 34.74% (74/213 ), 40.56% (58/143), 4269% (73/171), 45.86% (83/181), and 47.18% (92/195), respectively, showing an upward trend year by year.

Conclusion: The positive detection rate of children's thalassemia gene in Nanchong is relatively high, and the genetic types are complex, with β-thalassemia as the main type. The genetic pattern shows obvious regional distribution characteristics. The genotypes of thalassemia in children are mainly --^SEA/ αα, - α^3.7/ αα, CD17, CD41-42 and IVS-II-654, which are consistent with the genotypes of adults in this area, but different from high-risk areas such as Dongguan and Guangxi.

Objective: To explore the clinical characteristics and prognosis risk factors of aggressive NK-cell leukemia (ANKL).

Methods: The clinical and laboratory data of 34 patients with ANKL and 15 patients with chronic lymphoproliferative disorders of NK cells (CLPD-NK) admitted to the First Affiliated Hospital of Zhengzhou University from September 2019 to December 2024 were retrospectively analyzed. The Kaplan-Meier method was used to calculate survival rates, and the Cox proportional hazards regression model was used to analyze prognostic factors.

Results: Compared with CLPD-NK patients, ANKL patients had a younger median age of onset, a higher proportion patients with EBV-DNA≥500 copies/ml, hepatosplenomegaly and hemophagocytic syndrome. They also presented with a higher peak of fever, a shorter median survival time, lower WBC count, PLT count, ALB and Fib values, while having higher LDH, AST, TG, ferritin, CRP and PCT levels. There were statistically significant differences in the morphology and expression of HLA-DR, CD56, CD57, CD16 and CD158 on abnormall cells between ANKL patients and CLPD-NK patients. Multivariate survival analysis revealed that combined with asparaginase treatment could improve patients' survival, and CRP≥15 mg/L and Fib < 2.0 g/L were independent risk factors affecting the overall survival of patients with ANKL.

Conclusion: The differences in clinical features and laboratory tests between patients with ANKL and CLPD-NK aid in the diagnosis of ANKL. CRP and Fib levels can be used to predict the prognosis of patients, and combined asparaginase therapy can enhance the overall survival of patients.

Primary cutaneous lymphoma (PCL) is a group of heterogeneous diseases. Traditional chemotherapy methods often result in substantial toxic side effects due to their low tumor selectivity. Currently, individualized therapy based on the genetic characteristics and target molecules of tumors constitutes the main treatment strategy for managing PCL. In recent years, research on novel treatment options has developed rapidly. These innovative therapies, which primarily include monoclonal antibodies, immune checkpoint inhibitors, small-molecule inhibitors, and chimeric antigen receptor T-cell (CAR-T) therapies, not only expand the treatment options for patients but also significantly improve their survival outcomes. The objective of this article is to provide a comprehensive review of the latest classification system for PCL and the most recent research advancements in cutting-edge treatment strategies.

Objective: To investigate the effect of platelet irradiation on the efficacy and safety of platelet transfusion in children with hematological disorders.

Methods: The platelet transfusion of 56 pediatric patients in the Hematology Department of Wuhan Children's Hospital from January to December 2023 were retrospective analyzed. According to whether the platelets transfused by the patient have been irradiated, they are divided into irradiation group and non irradiation group. The effect of platelet irradiation on efficacy rate of transfusion and incidence of transfusion adverse reactions was analyzed.

Results: Fifty-six patients with hematological disorders received 608 platelet transfusions, with 83 transfusions ineffective and an inefficiency rate of 13.65%. Twenty-nine times of adverse transfusion reactions occurred, with a transfusion reaction incidence rate of 4.77%. The 24-hour CCI value of the irradiation group was lower than that of the non irradiation group ( Z=4.120, P < 0.01), and the effective rate of transfusion in the irradiation group was lower than that in the non irradiation group (χ²=8.595, P <0.01). The incidence of adverse reactions during transfusion in the irradiation group was lower than that in the non irradiation group (χ²=4.153, P <0.05). In children with acute leukemia, there were statistical differences in 24 h CCI, the effective rate of transfusion, and adverse transfusion reactions between the irradiation and non-irradiation groups.

Conclusion: Platelet irradiation can reduce the effective rate of platelet transfusion in children with hematological disorders, but can reduce the incidence of adverse transfusion reactions. To ensure the safety of blood use for pediatric patients, it is recommended to transfuse irradiated platelets to individuals who are susceptible to transfusion associated graft-versus-host disease (TA-GVHD), especially children with acute leukemia.

Objective: To investigate the clinical characteristics of patients with multiple myeloma (MM) complicated by bone lesions and the risk factors associated with bone lesions.

Methods: The clinical data of 294 newly diagnosed MM patients in Gansu Provincial Hospital from January 2017 to June 2021 were retrospectively analyzed. The patients were divided into the bone lesion group (154 cases) and the non-bone lesions group (140 cases) based on the presence of absence of bone lesions at diagnosis. The general data and laboratory parameters were compared between the two groups. The risk factors for bone lesions in MM patients were analyzed by logistic regression analysis, and the characteristic (ROC) curves were plotted to assess the predictive value of each risk factor for the occurrence of bone lesions in MM patients.

Results: Compared to the non-bone lesion group, the bone lesion group had significantly higher serum calcium levels and significantly greater proportions of patients with Durie-Salmon (DS) stage III, and bone pain (all P < 0.05). Logistic regression analysis showed that elevated serum calcium (OR =5.135, 95%CI : 1.931-13.653, P =0.001), DS stage III (OR =1.841, 95%CI : 1.019-3.328, P =0.043), and bone pain (OR=8.208, 95%CI : 4.761-14.151, P < 0.001) were independent risk factors for bone lesions in MM patients. ROC curve analysis showed that serum calcium (AUC=0.619, 95%CI : 0.555-0.683, P < 0.001) and bone pain (AUC=0.743, 95%CI : 0.692-0.793, P < 0.001) had predictive value for bone lesions in MM patients.

Conclusion: MM patients have a high incidence of bone lesions, and active monitoring and management of risk factors may improve treatment outcomes and prognosis.

Objective: To study the mechanism of arsenic trioxide (ATO) combined with metformin (MET) in promoting apoptosis of leukemia cells.

Methods: CCK-8 method was used to detect the viability of leukemia cell line KG1a, K562, and THP1 cells treated by ATO monotherapy, MET monotherapy, and ATO combined with MET. Flow cytometry was used to detect cell cycle and apoptosis. RT-qPCR was used to detect the mRNA expression of PI3K/Akt and LKB1/AMPK pathway-related genes. Western blot was used to detect the expression of PI3K/Akt and LKB1/AMPK pathway-related proteins and autophagy-related protein LC3B and P62.

Results: Compared with the ATO monotherapy group, ATO combined with MET significantly inhibited the growth of KG1a, K562 and THP1 cells, and the difference in KG1a cells was more statistically significant. The combination of the two drugs induced KG1a cell cycle arrest, promoted apoptosis, increased the expression of autophagy-related protein LC3B and P62, up-regulated the mRNA expression levels of PI3K/Akt pathway and LKB1/AMPK pathway-related genes, as well as the expression of LKB1/AMPK pathway-related proteins, and down-regulated the expression of PI3K/Akt pathway-related proteins.

Conclusion: ATO combined with MET promotes apoptosis by up-regulating LKB1/AMPK and down-regulating PI3K/Akt signaling pathway to regulate the autophagy of leukemia cells.

Objective: To explore the feasibility of modifying hemerythrin molecules with natural cross-linker genipin, and evaluate its efficacy and safety.

Methods: Hemerythrin was isolated and purified from sipunculid worms using tangential flow ultrafiltration. Subsequently, genipin cross-linked hemerythrin nanoparticles (GHrNPs) were constructed by adding 20% w/w genipin under mildly acidic conditions, and glutaraldehyde cross-linked hemerythrin nanoparticles (GAHrNPs) were constructed by adding 10% w/w glutaraldehyde under mildly alkaline conditions. The diameter, dispersity index, zeta potential, functional group structure, P₅₀, and Hill coefficient of the two nanoparticle groups were measured. The two nanoparticle groups at different concentrations were co-cultured with vascular endothelial cells for 24 hours, then the cell viability and NO concentration in the culture medium were measured.

Results: After glutaraldehyde/genipin molecular cross-linking, infrared spectra showed the continuous presence of amide bands I and II. The hydrated particle sizes of hemerythrin, GHrNP and GAHrNP were (93.14±2.11), (109.53±3.54), and (115.65±2.65) nm, dispersity indexes were 0.30±0.06, 0.27±0.05, and 0.25±0.03, zeta potentials were (-24.00±1.54), (-19.52±1.31), and (-18.90±1.25)mV, P₅₀ values were (9.28±0.22), (8.50±0.54), and (5.75±0.90) mmHg, and Hill coefficients were 1.61±0.14, 1.58±0.17, and 1.41±0.22, respectively. The average hydrated particle size increased after cross-linking with hemerythrin, the negative value of the zeta potential decreased (both P < 0.05). The P₅₀ value of GAHrNP was significantly decreased than that of hemerythrin and GHrNP (P < 0.05). The viability of vascular endothelial cells in the GHrNP group was higher than that in the GAHrNP group at different mass concentrations (P < 0.05). The NO concentration in the culture medium of vascular endothelial cells in the GHrNP group was higher than that in the GAHrNP group only at 2.0 mg/ml (P < 0.05).

Conclusion: Hemerythrin molecules cross-linked by genipin can form stable nanoparticles with good oxygen-carrying activity and lower cytotoxicity compared to glutaraldehyde.

Objective: To analyze the genotypes and distribution of thalassemia in Xindu District of Chengdu, in order to provide reference for the prevention and treatment of thalassemia in this area.

Methods: A total of 3 679 samples screened for thalassemia gene in Xindu District People's Hospital of Chengdu from June 2021 to April 2024 were selected as the study objects. Blood related parameters were detected by blood analyzer, hemoglobin composition was analyzed by capillary electrophoresis, and routine thalassemia gene detection was performed by PCR + flow-through hybridization. For the samples whose hematologic characteristics did not match the conventional results of thalassemia genes, the genotypes were determined by gene sequencing technology and the results were analyzed.

Results: Among 3 679 samples, 540 carriers were detected, the total detection rate was 14.68%. Among them, 329 cases were α-thalassemia, with a total of 8 genotypes. The top 3 genotype in frequency were --^SEA/ αα (45.29%, 149/329), - α^3.7/ αα (38.91%, 128/329), and - α^4.2 / αα (6.08%, 20/329). There were 197 cases of β-thalassemia, with a total of 10 genotypes, and the top 3 genotype in frequency were β ^{CD41-42 (-TCTT)}/β ^N (29.95%, 59/197), β ^CD17(A>T)/β ^N (27.92%, 55/197), and β ^{IVSII-654(C>T)} /β ^N (24.87%, 49/197). There were 14 cases of αβ-thalassemia, with a total of 12 genotypes, and the main were - α^3.7/ αα, β ^{IVSII-654(C>T)} /β ^N and - α^3.7/ αα, β ^{CD41-42 (-TCTT)}/β ^N . There was a rare thalassemia genotype (--^SEA/ HKαα). In addition, three rare abnormal hemoglobin mutations and one unreported abnormal hemoglobin mutation (HBA1:c.300+13C>G site heterozygous mutation) were also found.

Conclusion: The detection rate of thalassemia gene in this area is high and the genotype is complex. In gene diagnosis, we should pay attention to the combination of multi-technology detection to avoid missing rare genotypes.