Reflection on blood transfusion in a patient with RhC/E gene deletion / 中华检验医学杂志

The patient′s ABO blood type and Rh antigen phenotype were identified by monoclonal antibody serum test tube agglutination, and Rh antigen deletion was confirmed by gene sequencing.The ABO blood type and Rh antigen phenotype of the patient were identified using monoclonal antibody serum in vitro agglutination assay, and Rh antigen deletion was confirmed using gene sequencing. The Rh typing saline method showed that the patient was positive for anti D, but negative for anti E, -C, -c, and -e. The saline method for antibody screening showed negative results for cells I to III, positive results for polyamine and anti human globulin tests, positive results for antibody identification cells 1 to 16, and negative results for themselves. Direct anti globulin tests showed negative results. The sequencing results of RhC/E gene showed that exons 9-10 were normal, while exons 1-8 were missing. The patient had a deletion of exons 1-8 of the RhC/E gene, resulting in a loss of Rh antigen E/e and C/c expression. After the first random matching transfusion, the patient produced antibodies targeting E/e and C/c, resulting in an incompatibility between the main and side matching during the second infusion of red blood cell products and the inability to transfuse. In order to solve this situation, first we need to establish a rare blood group bank for Rh C/E gene deletion. Secondly, during the first blood transfusion, a small amount of RH antigen red blood cells should be injected. Stored autologous blood transfusion should also be considered.

Genetic Analysis and Prenatal Diagnosis of Thalassemia in Couples of Childbearing Age in Quanzhou Region Fujian Province, China / 中国实验血液学杂志

OBJECTIVE@#To explore the genotypes and prenatal diagnosis of thalassemia in couples of childbearing age in Quanzhou, Fujian Province.@*METHODS@#Blood routine and hemoglobin electrophoresis were performed for initial thalassemia screening in 76 328 couples in Quanzhou region from July 2017 to July 2020. The couples with positive initial screening results further underwent thalassemia gene test. Couples carrying homotypic thalassemia genes underwent prenatal diagnosis in the second trimester.@*RESULTS@#Among 76 328 couples of childbearing age, 1 809 couples of positive initial thalassemia screening were identified, with the positive rate about 2.37%. Further results of genetic detection of the 1 809 couples showed that 985 cases were diagnosed as α- thalassemia, of which --sea/αα was the most frequency, followed by -α3.7/αα and ααQS/αα; 296 cases were diagnosed as β-thalassemia, the most frequency mutations were 654M/N and 41-42M/N; 26 cases of compound α and β-thalassemia were detected. In addition, 3 rare cases of thalassemia were detected, including --THAI/αα, SEA-HPFH, and -α6.9/--sea. Among them, 108 couples were confirmed as homologous thalassemia, with the detection rate about 5.97%, including 96 couples of homologous α-thalassemia, 9 couples of homologous β-thalassemia, and 3 couples with one had compound α- and β-thalassemia. Among them, 17 couples with homologous α-thalassemia underwent prenatal diagnosis in the second trimester, of which 1 case of Hb Bart's Hydrops Syndrome, 3 cases of HbH disease, 9 cases of silent thalassemia or α-thalassemia minor, and 4 cases of healthy fetuses were detected. Fetal chromosome karyotype analysis showed that 16 cases were normal and 1 case diagnosed as Down syndrome.@*CONCLUSION@#Thalassemia screening in pre-marital and pre-pregnancy, and prenatal diagnosis can effectively reduce the birth of children with thalassemia intermediate and thalassemia major. It is necessary to perform chromosome karyotype analysis at the same time as prenatal diagnosis of thalassemia gene in order to avoid fetus with abnormal chromosome.

Genetic diagnosis for a case of hypophosphatasia and the prenatal diagnosis of his sibling / 中华内分泌外科杂志

Hypophosphatasia is a rare hereditary metabolic bone disease caused by ALPL gene mutation.This papaer report the genetic diagnosis of a child with childhood hypophosphatasia,and the prenatal diagnosis of his sibling.We hope it can provide reference for clinical diagnosis and prenatal diagnosis of this disease.

Evaluation of individualized medication under the guidance of genetic testing in the management of hypertension patients in rural areas / 中华疾病控制杂志

Objective This study combined genotyping with family doctors' contracting model to assess the application of precision medicine in rural patients with essential hypertension. Methods In this study, 209 hypertensive patients from 3 villages in Lujiang County, Hefei City, Anhui Province were selected as subjects and randomly divided into experimental group(n=105) and control group(n=104). The medication regimen of observation group was guided by genetic testing for gene sensitivity to antihypertensive drugs, and the control group was implemented routine pharmacy. All the patients were managed by family doctors. Adverse drug reaction rate, treatment compliance, blood pressure, body mass index (BMI), fasting blood glucose (FBG), cholesterol (TC), and triglycerides (TG) of the two groups were analyzed, respectively, during the 6-month intervention. Results After 6-month of intervention, the medication compliance of the experimental group were significantly higher than that of the control group, and the blood pressure and adverse drug reaction rate were significantly lower than that of the control group. After 3 months of intervention, there was no significant decrease in BMI, FBG, TC and TG in the two groups. After 6 months of intervention, the FBG, TC and TG of the experimental group were significantly decreased,while only the FBG value of the control group was significantly decreased. There were no significant changes in body mass index (BMI) values in both groups. Conclusions Individualized medication guided by genotyping can improve the treatment compliance, reduce the adverse drug reaction rate, and improve the treatment efficiency of patients with essential hypertension.

Practice of ADRB2, GLCCIl, FCER2 Gene Detection in Individualized Medication of 2 Children with Refractory Asthma / 中国药房

OBJECTIVE: To study the value of ADRB2, GLCCI1, FCER2 gene detection in individualized medication of children with refractory asthma.METHODS: Clinical pharmacists participated in therapy for 2 cases of refractory asthma, and comprehensively analyzed risk factors as its pathogenic factors (allergens and pathogens of respiratory infections), lung function indexes and family history. It was suggested to conduct anti-asthmatic drugs gene [p2-adrenergic receptor (ADRB2), glucocorticoid induced transcriptional 1 gene (GLCCI1), low affinity IgE receptor (FCER2)] testing. According to detection results, the suggestions were put forward such as increasing the dose of Glucocorticoid for inhalation, stopping β2 receptor agonist, additionally using anticholinergic drug. RESULTS: The clinical physicians adopted the suggestions of clinical pharmacists. After optimizing refractory asthma therapy plan according to the results of gene testing and clinical factors, 2 patients were stable and the number of seizures decreased significanthy. CONCLUSIONS: Gene test can provide evidence for the formulation of individualized therapy in asthma children.

Case Analysis of the Participation of Clinical Pharmacists in the Therapy for a Case of Serious Drug Erup-tion Due to Allopurinol / 中国药房

OBJECTIVE:To investigate the role of clinical pharmacists in the identification and treatment of serious drug erup-tion due to allopurinol. METHODS:Clinical pharmacists participated in the drug treatment for a patient with hyperuricemia. Through scanning the drugs used before and after hospitalization,suggesting to detect human leukocyte antigen(HLA)-B*5801 re-lated genes,and ultimately the cause of severe drug eruption was determined according to the detection result,i.e. allopurinol. At the same time,according to clinical symptom,genotype,lab detection indexes and results of drug sensitivity test,etc.,clinical pharmacists suggested to additionally use Ebastine tablets,Compound indometacin tincture,Triamcinolone acetonide and econazole nitrate cream and other symptomatic treatment;hormone+immunoglobulin shock therapy(Methylprednisolone sodium succinate for injection 80 mg,ivgtt,qd+Human immunoglobulin for intravenous injection 20 g,ivgtt,qd)replaced Allopurinol tablets to control allergic symptom;Bailing capsules and Compound α-ketoacid tablets were additionally used to improve renal function;Meropenem for injection and Voriconazole tablets were used to controll infection. Clinical pharmacists also provided pharmaceutical monitoring as therapeutic efficacy evaluation,electrolyte level monitoring,medication education and transferred-out follow-up,etc. RE-SULTS:Physicians adopted the suggestions of clinical pharmacists. The drug eruption of the patient gradually reduced,and pulmo-nary infection was improved. CONCLUSIONS:Severe drug eruption due to allopurinol has serious symptoms and long course of disease,and even endangers the lives of patients. It is suggested to screen HLA-B*5801 related genes before the use of allopurinol, and strengthen medical education to ensure the safety and effectiveness of drug use.

Case Analysis of the Participation of Clinical Pharmacists in the Therapy for a Case of Serious Drug Erup-tion Due to Allopurinol / 中国药房

OBJECTIVE:To investigate the role of clinical pharmacists in the identification and treatment of serious drug erup-tion due to allopurinol. METHODS:Clinical pharmacists participated in the drug treatment for a patient with hyperuricemia. Through scanning the drugs used before and after hospitalization,suggesting to detect human leukocyte antigen(HLA)-B*5801 re-lated genes,and ultimately the cause of severe drug eruption was determined according to the detection result,i.e. allopurinol. At the same time,according to clinical symptom,genotype,lab detection indexes and results of drug sensitivity test,etc.,clinical pharmacists suggested to additionally use Ebastine tablets,Compound indometacin tincture,Triamcinolone acetonide and econazole nitrate cream and other symptomatic treatment;hormone+immunoglobulin shock therapy(Methylprednisolone sodium succinate for injection 80 mg,ivgtt,qd+Human immunoglobulin for intravenous injection 20 g,ivgtt,qd)replaced Allopurinol tablets to control allergic symptom;Bailing capsules and Compound α-ketoacid tablets were additionally used to improve renal function;Meropenem for injection and Voriconazole tablets were used to controll infection. Clinical pharmacists also provided pharmaceutical monitoring as therapeutic efficacy evaluation,electrolyte level monitoring,medication education and transferred-out follow-up,etc. RE-SULTS:Physicians adopted the suggestions of clinical pharmacists. The drug eruption of the patient gradually reduced,and pulmo-nary infection was improved. CONCLUSIONS:Severe drug eruption due to allopurinol has serious symptoms and long course of disease,and even endangers the lives of patients. It is suggested to screen HLA-B*5801 related genes before the use of allopurinol, and strengthen medical education to ensure the safety and effectiveness of drug use.

Gene test of RET-proto-oncogene in a Chinese family of multiple endocrine neoplasia type 2 / 中华内分泌外科杂志

Objective To test the RET-proto-oncogene in a multiple endocrine neoplasia type 2( MEN2) family for confirming the diagnosis and classification , guiding treatment and prevention , and improving the prog-nosis.Methods There were 2 patients of MEN2 with clinical diagnosis and 1 asymptomatic first-degree relative in the pedigree .PCR and direct gene sequencing of PCR produces were used to scan the entire 21 exons of RET-proto-oncogene in the 3 members of the pedigree and 3 normal controls .Results The 2 patients and 1 asympto-matic first-degree relative in the pedigree all had a mutation of the codon 634 in exon 11.It was a heterozygous missense mutation C634R(TGC → CGC).The 3 normal controls showed no abnormalities .Conclusion The gene test of RET proto-oncogene helps to confirm the diagnosis of the pedigree as MEN 2, which can guide the treatment and help identify one asymptomatic mutation carrier .

THE STUDY OF MUTATION SPECTRUM OF HEMOPHILIA / Шинэ санаа Шинэ нээлт

Background:Hemophilia is life-threatening and hereditary bleeding disorder caused by deficiencies of pi coagulation VIII. IX, XI factor, and that is inherited by X-linkcd recessive.However, hemophilic treatment is getting increase in our country, but still insufficient or poor because of high cost, which is about 50000-70000$ per patient per year in other countries. Now, we need to detect hemophilia heterozygote (XAX*) or no symptomatic carrier among hemophiliac siblings (including mother, younger sister, sister) that is essential for prevention of hemophilia. We need to screen the mutation spectrum of FS and F9 gene among patients with hemophilia in order to detect hemophilia carriers.Objective:to detect a mutation 1'Ó ø! f9 gene among patients with hemophilia Methods:The blood samples were collected from paffeflf* who had been hospitalizing in department ot hematology of the First Clinical Hospital and the National Center for Maternal and Child Health from 2010 to 2011. We have carried out the screening of most common mutation named int- 22 inversion by Long-Range PC'R method is previously described by Lui Q et al.. 1998. Direct sequence method was used to detect the SNP and small deletion in patients who had no int-22 inv and large deletion.Results:In total, If pillitfhis with hemophilia (ÈË-14, IIB=1) participated in this study. The 9 patients positive for an int-22 inversion mutation, while the one patient had a multiple exon deletion (exon 1-13) which was demonstrated by repeated PC'R amplification failure. I wo missense mutation and 1 frame shift mutation were detected. The one patient had nonsense mutation but he was diagnosed as a severe hemophilia-A patient.Conclusion:We have to urgently adopt the molecular diagnosis and carrier detection ol hemophilia in our rnuntrv

THE STUDY OF MUTATION SPECTRUM OF HEMOPHILIA / Шинэ санаа Шинэ нээлт

Background: Hemophilia is life-threatening and hereditary bleeding disorder caused by deficiencies of pi coagulation VIII. IX, XI factor, and that is inherited by X-linkcd recessive. However, hemophilic treatment is getting increase in our country, but still insufficient or poor because of high cost, which is about 50000-70000$ per patient per year in other countries. Now, we need to detect hemophilia heterozygote (XAX*) or no symptomatic carrier among hemophiliac siblings (including mother, younger sister, sister) that is essential for prevention of hemophilia. We need to screen the mutation spectrum of FS and F9 gene among patients with hemophilia in order to detect hemophilia carriers. Objective: to detect a mutation 1'Ó ø! f9 gene among patients with hemophilia Methods: The blood samples were collected from paffeflf* who had been hospitalizing in department ot hematology of the First Clinical Hospital and the National Center for Maternal and Child Health from 2010 to 2011. We have carried out the screening of most common mutation named int- 22 inversion by Long-Range PC'R method is previously described by Lui Q et al.. 1998. Direct sequence method was used to detect the SNP and small deletion in patients who had no int-22 inv and large deletion. Results: In total, If pillitfhis with hemophilia (ÈË-14, IIB=1) participated in this study. The 9 patients positive for an int-22 inversion mutation, while the one patient had a multiple exon deletion (exon 1-13) which was demonstrated by repeated PC'R amplification failure. I wo missense mutation and 1 frame shift mutation were detected. The one patient had nonsense mutation but he was diagnosed as a severe hemophilia-A patient. Conclusion: We have to urgently adopt the molecular diagnosis and carrier detection ol hemophilia in our rnuntrv