β-Thalassemia among Newborns in Wuhan Region and Its Influence Factors / 中国实验血液学杂志

OBJECTIVE@#To investigate the screening of β-thalassemia among newborns in Wuhan region, so as to explore the influencing factors of Hb A in dried blood spot.@*METHODS@#Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99 275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis. The screening result of β-thalassemia was interpretated accroding to the ratio of each group, the suspicious β-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked.@*RESULTS@#Among 99 275 newborns, 1 408 positive patients were found, and the positive rate of screening was 1.41%. A total of 350 patients with gene mutation were found among 709 β-thalassemia suspicious patients. There were significantly statistical differences of positive predictive value among Hb A levels in different groups and there were also significantly statistical differences of positive predictive values among gestational weeks in different groups. No significantly statistical differences were observed among different genetic defects and phenotypes of heterozygous β-thalassemia in Hb A concentrations. Postnatal day and gestational age were significantly and positively associated with Hb A concentrations.@*CONCLUSION@#The capillary electrophoresis is an effective screening method for β-thalassemia of full-term neonate. Postnatal day and gestational age is associated with the pencentage of Hb A.

Genetic Analysis and Prenatal Diagnosis for Thalassemia of Pregnant Women in Wuhan Area of China / 中国实验血液学杂志

OBJECTIVE@#To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia.@*METHODS@#A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene. The husbands of the pregnant women with thalassmia were recalled for genetic analysis of thalassemia, and 9 cases of fetuses with high risk of thalassemia were detected by amniocontesis after genetic counseling.@*RESULTS@#In 357 cases of the pregnant women in Wuhan area, the 214 cases were diagnosed as thalassemia, 80 cases were diagnosed as alpha thalassemia (up to 90%), whose genotypes were determind as --/αα (78.75%) and -α/αα (15.00%), while 133 cases were determind with genotype of IVS-2-654/N (43.61%), CD41-42/N (20.30%) and CD17/N (19.55%) in beta thalassemia (up to 80%). 9 prenatal diagnosis continued pregnancy included 1case of -α/--, 1 case of -α/αα, 2 cases of --/αα, 2 cases of IVS-2-654/N and 3 cases of normal, however, the pregnancy in prenatal diagnosis of -α/-- voluntarily was terminated after genetic counseling. Follow-up results after delivery were consistent with prenatal diagnosis.@*CONCLUSION@#Minor and static thalassemia were very common in Wuhan area. Genetic detection after primary screening, genetic counseling and prenatal diagnosis in pregnant women could provide a theoretical basis for the development of regional specific prevention of intermedius and critical thalassemia which is meaning for rearing and bearing better children.

Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China / 中国实验血液学杂志

OBJECTIVE@#To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.@*METHODS@#A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.@*RESULTS@#There were 537 cases of β-thalassemia with over 15 kinds of genotypes, and 19 cases of α-composite β-thalassemia with 8 genotypes. Thalassemia minor appeared mostly in β-thalassemia, including 229 cases of IVS-2-654/N (42.64%), 121 cases of CD41-42/N (22.53%), 76 cases of CD17/N.(14.15%), 39 cases of CD26/N (7.26%) and 27 cases of CD27-28/N (5.03%) and the total ratio reached to 91.62%, however, 1 case of thalassemia intermediate was -29/IVS-2-654, and the genotype of 2 cases of thalassemia major was CD27-28/IVS-2-654 and CD41-42/IVS-2-654. The mutation frequency of IVS-2-654, CD41-42 and CD17 was higher in β-thalassemia, as follows: 42.93%, 22.36% and 14.13%, respectively.@*CONCLUSION@#β-Thalassemia minor is the majority of the neonants thalassemia in Wuhan area. The gene frequency of deletion type, such as IVS-2-654/N, CD41-42/N and CD17/N, is higher.

Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area.</p><p><b>METHODS</b>The newborn α-thalassemia gene in 1376 cases with positive confirmed in the primary screening in Wuhan area was detected by PCR, flow cytometry and FISH.</p><p><b>RESULTS</b>The α-thalassemia in 436 newborns and α- β-composite thalassemia in 10 newborns were confirmed by detection in Wuhan area. The majority of thalassemia cases [up to 92.20% (402/436)] were found to be minor and static type thalassemia including 237 cases of -αα (54.36%), 135 cases of -α/ αα (30.96%) and 30 case of -α/αα (6.88%), however, the intermediate type -α/-was found in 1 newborn. The -/detetion, -α/detetion and -α/detetion were major in the detetion, the frequency was 54.12%, 32.29% and 7.13%, respectively; while the αmutation, αmutation and αmutation were less in the mutation, their frequency was 3.7%, 2.45% and 0.22% respectively.</p><p><b>CONCLUSION</b>The minor and static type newborn thalassemia is most common, the incidence of detetion type -/αα, -α/αα and α/αα is more high in Wuhan area of china.</p>

SRY gene-testing in the diagnosis of disorders of sex development among children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.</p><p><b>METHODS</b>The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.</p><p><b>RESULTS</b>Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.</p><p><b>CONCLUSIONS</b>SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.</p>