1.Analysis on hematological phenotype and genotype of α-thalassemia
Qiuyan LI ; Qinquan CAI ; Hongmei MO
International Journal of Laboratory Medicine 2017;38(21):3006-3008
Objective To analyze the genotype distribution characteristics in the patients with α-thalassemia and the relationship between hematological phenotype and genotype .Methods 209 cases of α-thalassemia in our hospital from August to October 2016 were selected and divided into the silence type group (58 cases) ,standard type group(138 cases) ,intermediate type group(4 cases) and non-deletion type group(9 cases) .Contemporaneous 25 subjects undergoing healthy physical examination were selected as the normal control group .The automatic capillary electrophoreses was adopted to detect HbA 2 .The hematological indicators of MCV , MCH and MCHC were detected by using the automatic blood cells analyzer .Results Among 209 cases ofα-thalassemia ,8 mutation genotypes were detected ,in which - - SEA/αα deletion type accounted for 66 .03% ,- α3 .7/αα deletion type accounted for 22 .97% .The levels of MCV ,MCH and MCHC in the silence type group ,intermediate type group ,standard type group and non-de-letion type group was significantly lower than that in the normal control group ,the difference was statistically significant ( P<0 .05) ,the HBA2 level in the intermediate type group was lower than that in the normal control group ,the difference was statisti-cally significant (P<0 .05) ,but the HbA2 level had no statisticval difference between the silence type group ,standard type group and non-deletion type group with the normal control group(P>0 .05) .Conclusion The gene mutation in the patients with α-thalas-semia in Luohu District of Shenzhenis City is dominated by the deletion type of - -SEA/αα.The hematological indicators such as MCV ,MCH and MCHC can serve as the combined screening indexes of α-thalassemia ,but for the patients with -α3 .7/ααgenotypeα-thalassemia ,there is the possibility of missed diagnosis .
2.Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia.
Yumin LI ; Qinquan CAI ; Xiao JIN ; Junlong QIN ; Yaqiong CHEN ; Rui LI ; Yunjun MO ; Xiuming ZHANG
Chinese Journal of Medical Genetics 2021;38(1):7-11
OBJECTIVE:
To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia.
METHODS:
In total 72 397 samples were screened by using capillary electrophoresis. Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters. Gap-PCR and PCR-reverse dot blotting (PCR-RDB) were used for analyzing the thalassemia genes.
RESULTS:
Thirty one cases of Hb J-Bangkok were identified, all of which were heterozygotes. The hematological phenotype index (Hb, mean corpuscular volume, mean corpuscular hemoglobin, Hb J-Bangkok, Hb A
CONCLUSION
Hb J-Bangkok heterozygotes have normal hematological phenotypes, though they may show different hematological characteristics when concomitant with different types of thalassemia, for which genetic counseling should be provided accordingly.
Female
;
Hemoglobins, Abnormal/genetics*
;
Heterozygote
;
Humans
;
Male
;
Phenotype
;
Thailand
;
beta-Thalassemia/genetics*
3.Development and application of intelligent management system for documents and records of regional medical laboratory cen-ter
Lijuan KAN ; Dayang CHEN ; Xinyuan HAN ; Feifan GUO ; Lijun ZHANG ; Qinquan CAI ; Qilin WEN ; Xiuming ZHANG
Chinese Journal of Clinical Laboratory Science 2023;41(12):927-932
Objective To develop an intelligent management system of documents and records that meets the requirements of ISO 15189 quality management system applied to regional medical laboratory center.Methods Based on the relevant terms of ISO 15189 document and record,an intelligent management system for laboratory documents and records with B/S architecture was established by the help of computer technology.Results The document and record management system stored the quality system documents required for ISO 15189 review as well as the external documents,such as laboratory-related laws and regulations,standard guidelines and expert consensus,which can be accessed by users through a computer or mobile phone.The multi-process control mode was adopted to author-ize the special personnel to complete the compiling,review,approval and,release of the files according to the type and attribute of the documents.The management system of records established 9 special records,319 form records and 20 process records to support the ef-fective operation of the quality system.Conclusion The established intelligent management system for documents and records has fully met the requirements of ISO 15189 on documents and records management,realized the sharing and interconnection of the documents in the given region.It is convenient for the employees to consult the documents and fill in the records in a timely and efficient manner.