With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB&

Background: Hereditary spherocytosis (HS), a commonly encountered hereditary hemolytic disease, is mostly inherited in an autosomal dominant manner. The clinical manifestations in patients with HS show obvious heterogeneity. Moreover, the sensitivity or specificity of some HS diagnostic tests are not ideal and may easily result in misdiagnosis or missed diagnosis in some patients. The objective of this study was to propose a simple and practical diagnostic protocol, which can contribute to the diagnosis of HS and its differential diagnosis with different types of hemolytic anemia such as thalassemia (THAL), autoimmune hemolytic anemia (AIHA), and glucose‐6‐phosphate dehydrogenase (G6PD) deficiency, thus, to provide an alternative simple and reliable method for better clinical diagnosis of HS.Methods: Through combing our research with existing experimental technologies and studies, we propose a simple and practical protocol for HS diagnosis, which will help clinicians to improve HS diagnosis.Results: Compared with the existing HS diagnostic protocols, the HS diagnostic protocol we proposed is simpler. In this new protocol, some experimental tests with ideal diagnostic efficiency are added, such as mean reticulocyte volume (MRV), mean sphered cell volume (MSCV), mean corpuscular volume (MCV), in combination with the observation of clinical manifestations, family investigation, routine tests for hemolytic anemia, genetic testing, and other screening tests.Conclusion: The HS diagnostic protocol we proposed could improve the clinical practice and efficiency of HS diagnosis.

Congenital dysfibrinogenemia (CD) is a qualitative fibrinogen disorder caused by an abnormal fibrinogen molecule structure, leading to dysfunctional blood coagulation. This study describes 3 cases of dysfibrinogenemia identified in the unrelated Chinese pedigrees.Routine coagulation screening tests were performed on the probands and their families. The antigens and functionality of fibrinogen was measured using an immunoturbidimetry assay and the Clauss method, respectively. To identify the genetic mutation responsible for these dysfibrinogens, genomic DNA extracted from the blood was analyzed using PCR amplification and direct sequencing. The presence of the mutant chains was determined using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectroscopy. Purified plasma fibrinogen of 3 probands was analyzed using SDS-PAGE, fibrinogen clottability, fibrin polymerization, fibrinopeptide release, and scanning electron microscopy (SEM).The 3 probands had a long thrombin time. Levels of functional fibrinogen were found to be very low, while the fibrinogen antigen was within the normal range. DNA sequencing revealed a heterozygous Arg16His substitution in the fibrinogen Aα chain (FGA). The mutant chains were found to be expressed using MALDI-TOF mass spectroscopy. SDS-PAGE did not reveal any difference in the molecular weights of 3 polypeptide chains between normal and abnormal fibrinogens. Fibrinogen clottability showed a slower fibrin clot formation than the healthy control. Fibrin polymerization, after addition of thrombin, showed a prolonged lag phase and decreased final turbidity. The kinetics of fibrinopeptides release revealed a decreased amount of the released fibrinopeptide A. SEM of the patient's fibrin clot was found to be abnormal.Results indicate that the 3 probands with dysfibrinogenemia were caused by mutations of Aα chain Arg16His. Mutation of this fibrinogen induced dysfunction of plasma fibrinogen.

Mean platelet volume (MPV) is a marker of platelet activation. MPV and platelet count (PC) are negatively correlated, and their ratio (MPV/PC) is informative for the diagnosis of malignant tumors. However, the relationship between MPV/PC and colorectal cancer is unclear. This retrospective clinical study aimed to evaluate the diagnostic value of MPV/PC in colorectal cancer. Hematological examinations were performed at initial diagnosis in patients with colorectal cancer (n = 186) or adenomatous polyp (n = 132) and healthy controls (n = 108). Hematological parameters evaluated included white blood cells, red blood cells, hemoglobin, neutrophils, lymphocytes, monocytes, PC, and MPV. Statistical analyses included Student’s t-test, one-way ANOVA or Kruskal-Wallis H test, chi-square tests, Spearman’s correlation test and receiver operating characteristic (ROC). ROC curve was used to evaluate the diagnostic values of MPV and MPV/PC in colorectal cancer. Among these groups, MPV was significantly lower in colorectal cancer than in adenomatous polyp (p = 0.002) and healthy controls (p < 0.001) but did not significantly differ between adenomatous polyp and healthy controls (p = 0.210). MPV/PC was lower in colorectal cancer compared with adenomatous polyp and healthy controls (p < 0.001) and in adenomatous polyp compared with healthy controls (p = 0.010). MPV did not significantly differ among colorectal cancer subgroups, while MPV/PC significantly differed between TNM stages and the presence/absence of lymph node metastasis. MPV/PC was negatively correlated with the neutrophil to lymphocyte ratio(NLR) (p = 0.002) and platelet to lymphocyte ratio(PLR) concentration (p < 0.001). In the differential diagnosis between colorectal cancer and adenomatous polyp, MPV/PC produced a larger ROC curve than MPV, NLR or PLR alone. Using MPV/PC to distinguish between colorectal cancer and controls produced a larger AUC than using MPV or NLR alone. MPV/PC may be useful for the diagnosis of colorectal cancer. However, further studies are warranted to include additional regions and more data, to assess the utility of MPV/PC as a novel diagnostic screening tool for colorectal cancer.

The red cell distribution width (RDW) has attracted attention in the diagnosis of malignant tumors. In this study, we analyzed the correlation between the RDW and ovarian cancer by observing changes in the RDW in patients with ovarian cancer. Patients diagnosed with ovarian cancer at the First Affiliated Hospital of Guangxi Medical University, China, from 2012 to 2016, were retrospectively analyzed. Patients diagnosed with ovarian benign tumors in our hospital during the same period comprised the control group. Differences in relevant indicators were compared between the ovarian cancer and control groups using the Mann–Whitney U test. Differences in the RDW at different stages of ovarian cancer were compared using one-way analysis of variance. Correlations between the RDW and experimental parameters in patients with ovarian cancer were analyzed by Spearman correlation. The RDW, absolute neutrophil count (N), neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and cancer antigen 125 (CA-125) concentration were significantly higher in the ovarian cancer than control group. The hemoglobin concentration (Hb) and absolute lymphocyte count (L) were significantly lower in the ovarian cancer than control group. The RDW was significantly different among 4 different stages of ovarian cancer. Correlation analysis demonstrated that the RDW was negatively correlated with the hemoglobin concentration (Hb). The RDW was positively correlated with the cancer stage, NLR, PLR, and CA-125 concentration. The area under the receiver-operating characteristic curve of the RDW was 0.876 (95% confidence interval 0.829–0.923). The RDW is associated with ovarian cancer and is a potential marker of its progression.