ABSTRACT
OBJECTIVE@#To investigate characteristics of silent alpha thalassemia genes in child-bearing adults in Guangdong, in order to provide data for the prevention and control of hemoglobin H disease.@*METHODS@#A total of 8 752 cases were collected from January 2016 to December 2020. Gap-PCR was used to detect the deletional of α-thalassemia mutations (-α3.7, -α4.2), while PCR reverse dot blot hybridization assay (RDB) was used to detect the non-deletional α-thalassemia mutations (Hb CS, Hb QS and Hb Westmead).@*RESULTS@#Among 8 752 subjects, 717 cases of silent α-thalassemia were detected, the detection rate was 8.19%, including 555 cases of deletional α-thalassemia (77.41%) and 162 cases of non-deletional α-thalassemia 22.59%. The mean corpuscular volume (MCV) of deletional silent α-thalassemia was (82.09±4.10) fl, and mean corpuscular hemoglobin (MCH) was (27.03±1.37) pg, which both were over the diagnostic cut-off value for thalassemia. The MCV of non-deletional silent α-thalassemia was (81.07±4.93) fl, and MCH was (26.77±2.20) pg. According to the diagnostic criteria, if using MCV<82 fl or (and) MCH<27 pg as a positive criteria for screening thalassemia in the childbearing age, the screening sensitivity was 53.14% and different in different genotype, among which ααQS/αα was 100%, -α3.7/αα, -α4.2/αα, ααCS/αα and ααWS/αα was 62.15%, 63.41%, 44.83% and 39.62%, respectively. Namely, nearly half the carriers of such mutations might have escaped detection as a result of their screening strategy.@*CONCLUSION@#When a couple is preparing for pregnancy, if one of them has been determined to be mild α-thalassemia or hemoglobin H disease, other half is necessary to carry out silent α thalassemia detection to prevent the birth of children with hemoglobin H disease even if MCV>82 fl and MCH>27 pg.
Subject(s)
Adult , Pregnancy , Female , Humans , alpha-Thalassemia/diagnosis , Genotype , Mutation , Erythrocyte Indices , Polymerase Chain Reaction , China , beta-Thalassemia/geneticsABSTRACT
Objective To explore clinical characteristics of human cytomegalovirus (HCMV) and polyomavirus (BKV and JCV) infection after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods Clinical data of 53 patients with hematologic malignancies who underwent allo-HSCT from June 2016 to December 2017 were collected.HCMV, BKV and JCV loads in patients' peripheral blood and urine were monitored once a week from day 1 to day 100 after transplantation.Incidence, occurrence time, clinical manifestations, and risk factors of viral infection were analyzed.Results A total of 51 patients had viral infection, infection rate was 96.23％.HCMV, BKV, and JCV infection rates were 54.72％ (29/53), 77.36％ (41/53), and 28.30％ (15/53) respectively.Incidences of pulmonary infection, acute graft-versus-host disease (aGVHD), and hemorrhagic cystitis (HC) were 54.72％, 58.49％, and 20.75％respectively.Analysis on risk factors showed that aGVHD (OR, 24.61[95％ CI, 2.30-46.24]), pretreatment with total body irradiation (TBI) (OR, 33.39[95％ CI, 1.57-79.13]), and use of antithymocyte globulin (ATG) (OR, 24.77[95％ CI, 1.16-52.58]) were independent risk factors affecting HCMV.Human leukocyte antigen (HLA) coincidence (OR, 0.003[95％ CI, 0.00-0.10]) could reduce the risk of HCMV viruria;pretreatment with TBI (OR, 15.10[95％ CI, 1.14-39.27]) was an independent risk factor for BKV viruria, compatible blood group of donor and recipient (OR, 0.07[95％ CI, 0.01-0.64]) could reduce the risk of BKV viruria.Conclusion HCMV and polyomavirus infection in blood and urine of recipient should be monitored as soon as possible after transplantation, so as to prevent and reduce complications in time.
ABSTRACT
<p><b>OBJECTIVE</b>To report the identification of a novel 3.8-kb deletion that caused α thalassemia and establish the method for detecting the deletion fragment.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his mother for analysis of the hematological parameters and routine test for thalassemia genes. For the sample with an inconsistency between the genotyping results and phenotypic analysis results, a specific gap-PCR was employed to identify the rare or novel mutations.</p><p><b>RESULTS</b>A novel 3814-bp deletion causing α thalassemia was found in the proband and his mother, who had genotypes of -α4.2/-α3.8 and αα/-α3.8, respectively.</p><p><b>CONCLUSION</b>We identified a 3.8-kb deletion in the α-globin gene cluster that caused α thalassemia, and this finding enriches the α thalassemia gene mutation spectrum. Specific gap-PCR offers a convenient and efficient means for for detecting this deletion fragment.</p>