Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster / 中华医学遗传学杂志

OBJECTIVE@#To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.@*METHODS@#A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their hematological characteristics were compared by statistical analysis R software.@*RESULTS@#Eighty-nine cases were detected with Chinese @*CONCLUSION@#The carrier rate for large fragment deletions of β gene cluster in Huizhou region is rather high, for which the value of HbF is significantly increased. Attention should be paid to screening and diagnosis of rare genotype to prevent missed diagnosis and/or misdiagnosis.

Phenotypic and genotypic analysis of 45 cases with Hemoglobin Q-Thailand / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province.</p><p><b>METHODS</b>A total of 34 977 samples were screened by capillary and agarose gel electrophoresis. Samples suspected with HbQ strips were subjected to blood cell count and DNA sequencing. Twenty three common mutations associated with α- and β-thalassemia were identified by liquid phase chip and diversion hybridization technique.</p><p><b>RESULTS</b>The carrier rate of Hb Q-Thailand in Huizhou area was 0.13%. Pedigree analysis indicated that the Hb Q-Thailand allele is linked with a leftward single a-globin gene deletion (-α). Hematological index (HGB, MCV, MCH, HbA, HbA, HbQ) of 45 heterozygous carriers of Hb Q-Thailand were (130.25±17.37) g/L, (79.81±4.97) fl, (26.38±1.48) pg, (71.37±5.07)%, (1.65±0.45)%, (26.87±4.95)%, respectively. A statistical difference was also found in their hematological index of HbA and HbA compared with 408 heterozygous carriers of -α mutation (P<0.05).</p><p><b>CONCLUSION</b>Hb Q-Thailand has a high detection rate in Huizhou area. The allele is mainly in a heterozygous status and linked with -α. The Hb Q strip can be detected by hemoglobin electrophoresis. When combined with other types of thalassemia, the heterozygotes will show unique hematological parameters.</p>

Composition and drug resistance analysis of pathogens causing genital tracts infection during premature rupture of membranes / 国际检验医学杂志

Objective To investigate the composing characteristics and drug resistances of pathogens isolated from genital tracts in premature rupture of membranes of obstetrics from 2012 to 2014 ,for instructing clinical application of antibiotics reasonably . Methods A retrospective investigation analysis was made for all the isolated bacteria from genital tracts specimens as well as their drug resistances from 2012 to 2014 .Results The results shows that 598 strains of bacterial pathogens were isolated from 2000 detected samples ,The infection rate of bacterial pathogens was 29 .90% .The top four bacteria pathogens were E .coli(31 .44% ) ,Can . albicans(20 .90% ) ,Str .agalactiae(19 .23% ) and Sta .aureus(10 .03% ) .E .coli and Sta .aureus were highly resistant to commonly used antibiotics and demonstrated multi‐drug resistance .Str .agalactiae and Can .albicans were lowly resistant to commonly used antibiotics .Conclusion Inspecting pathogens and studying the composition of pathogens and the trend of their drug resistance are im ‐ portant to rationally select antibiotics ,decrease the occurrence of drug resistant strains in perinatal period ,and control the outbreak and prevalence of nosocomial infection .