To analyze the ethnic differences in the genotype distribution of thalassemia between the Han and Li ethnic groups in the Qiongnan region (southern Hainan). A cross-sectional study employing a stratified multistage sampling method was conducted from January 2019 to December 2023. A total of 4 493 high-risk individuals (2 734 Han and 1 759 Li) from southern Hainan (including Sanya, Ledong, Baoting, Lingshui, and other counties) underwent thalassemia genetic testing. The genotype distribution was statistically analyzed. Inter-group comparisons were performed using χ2 test or Fisher′s exact test. The results showed an overall thalassemia positivity rate of 66.70% (2 997/4 493), with carrier, intermediate and major thalassemia rates of 62.01% (2 786/4 493), 3.98% (179/4 493) and 0.71% (32/4 493), respectively. The positivity rates for thalassemia were 87.83% (1 545/1 759) in the Li ethnic group and 53.11% (1 452/2 734) in the Han ethnic group. Among them, the Li ethnic group exhibited significantly higher positivity rates for α-thalassemia (71.12% vs. 40.64%, χ2=398.90, P<0.001) and α/β-compound thalassemia (13.36% vs. 3.33%, χ2=160.06, P<0.001) compared to the Han ethnic group, whereas the Han ethnic group had a higher β-thalassemia rate (9.14% vs. 3.35%, χ2=56.03, P<0.001). Both ethnic groups shared common α-thalassemia alleles (-α 3.7 and -α 4.2), but the -- SEA allele proportion was significantly higher in Han (21.33% vs. 4.34%, χ2=231.45, P<0.001). Six rare -α 21.9 mutations (0.26%) were exclusively identified in the Li ethnic group, whereas none were found in Han. For β-thalassemia, the β CD41-42 allele was predominant in Li (96.60% vs. 71.01%, χ2=77.24, P<0.001), whereas other alleles (β IVS-II-654, β CD71-72, β CD17, and β -28) were more prevalent in Han (11.01%, 6.96%, 4.64%, and 3.19% vs. 1.54%, 0.00%, 0.31%, and 0.62%, respectively),all P<0.05. In conclusion, distinct ethnic disparities in thalassemia genotype distribution are observed in southern Hainan. The Li ethnic group is predominantly characterized by α-thalassemia and α/β-compound genotypes with a predominant β CD41-42 mutation. In contrast, the Han ethnic group displays higher -- SEA proportion and heterogeneous β-thalassemia genotypes.

To analyze the ethnic differences in the genotype distribution of thalassemia between the Han and Li ethnic groups in the Qiongnan region (southern Hainan). A cross-sectional study employing a stratified multistage sampling method was conducted from January 2019 to December 2023. A total of 4 493 high-risk individuals (2 734 Han and 1 759 Li) from southern Hainan (including Sanya, Ledong, Baoting, Lingshui, and other counties) underwent thalassemia genetic testing. The genotype distribution was statistically analyzed. Inter-group comparisons were performed using χ2 test or Fisher′s exact test. The results showed an overall thalassemia positivity rate of 66.70% (2 997/4 493), with carrier, intermediate and major thalassemia rates of 62.01% (2 786/4 493), 3.98% (179/4 493) and 0.71% (32/4 493), respectively. The positivity rates for thalassemia were 87.83% (1 545/1 759) in the Li ethnic group and 53.11% (1 452/2 734) in the Han ethnic group. Among them, the Li ethnic group exhibited significantly higher positivity rates for α-thalassemia (71.12% vs. 40.64%, χ2=398.90, P<0.001) and α/β-compound thalassemia (13.36% vs. 3.33%, χ2=160.06, P<0.001) compared to the Han ethnic group, whereas the Han ethnic group had a higher β-thalassemia rate (9.14% vs. 3.35%, χ2=56.03, P<0.001). Both ethnic groups shared common α-thalassemia alleles (-α 3.7 and -α 4.2), but the -- SEA allele proportion was significantly higher in Han (21.33% vs. 4.34%, χ2=231.45, P<0.001). Six rare -α 21.9 mutations (0.26%) were exclusively identified in the Li ethnic group, whereas none were found in Han. For β-thalassemia, the β CD41-42 allele was predominant in Li (96.60% vs. 71.01%, χ2=77.24, P<0.001), whereas other alleles (β IVS-II-654, β CD71-72, β CD17, and β -28) were more prevalent in Han (11.01%, 6.96%, 4.64%, and 3.19% vs. 1.54%, 0.00%, 0.31%, and 0.62%, respectively),all P<0.05. In conclusion, distinct ethnic disparities in thalassemia genotype distribution are observed in southern Hainan. The Li ethnic group is predominantly characterized by α-thalassemia and α/β-compound genotypes with a predominant β CD41-42 mutation. In contrast, the Han ethnic group displays higher -- SEA proportion and heterogeneous β-thalassemia genotypes.

Objective To investigate the incidence of live births with Down syndrome(DS) in Sanya city as well as to discuss the related risk factors .Methods The object of investigation was the 25 032 infants who were born in Sanya city ,then the children with clinical suspected of DS were confirmed by peripheral blood chromosome analysis .Meanwhile ,the clinical data of children and their parents were collected ,calculating the incidence of DS in this region and analyzing the related risk factors .Results In this region , the total incidence of DS was 0 .959‰ ,the incidences in the Han nationality and Li nationality were 0 .834‰ ,1 .442‰ respectively . The mean age of DS children′s mother was 29 .8 years old ,and the incidence of DS increased as their mother grew older .Before pregnancy ,DS children′s mother who had an exposure history of toxicant and drugs accounted for 45 .8% .Conclusion The inci‐dence of DS in Sanya is quite high ,so it is extremely essential to strengthen the women′s pregnancy Down syndrome screening and improve the prenatal diagnosis in this region .

Objective To compare postoperative complic at ions and defecation functions between laparoscopic pull-through heart-shape colo proctectomy (LHSC) and open pull-through surgery in the treatment of Hirchsprung 's disease (HD). Methods A total of 57 children with HD were g iven LHSC from August 1999 to November 2003. Among them, 54 children were follow ed for a mean of 2.8 years (range, 6 months ~ 4.8 years). The operation time, co mplications, defecation functions, and hospitalization costs of these patients w ere analyzed. And the data of the 54 patients (Laparoscopic Group) were compared with those from other 48 patients (Open Group) who had undergone open pull-thro ugh surgery before August 1999. Results The operation time was longer in the Laparoscopic Group(169?59 min) than in the Open Group(138?43 mi n)(t=2.903,P=0.005). The total hospitalization costs of the Laparoscopic Group (12 030?1 050 yuan) was significantly higher than that of the Open G roup (10 500?1 500 yuan) (t=6.019,P=0.000). There were no statisti cal differences in the rate of postoperative complications between the two group s (?~2=2.86,P=0.091), but less wound infections and adhesive ileus and more urinary retention were seen in the Laparoscopic Group as compared with the Open Group. In the Laparoscopic Group, the rate of anorectal reflex recover y was 55.6%, the anorectal angle was 83.4??10.4?, and the incidence of abnorm al defecation, 11.1% (constipation and faecal contamination respectively account ed for 50%), all of which were similar to those in the Open Group. No significan t differences were found in the anorectal resting pressure and the length of ana l high-pressure zone between the two groups (t=-0.979, P=0.334; t=-0.234, P=0.816). Conclusions LHSC technique is a safe and effectiv e method for Hirchsprung's disease, with postoperative advantages of quick reco very, few complications, and defecation functions similar to open surgery.

Objective To compare the therapeutic results of laparoscopic-assisted endorectal colon pull-through with radical Swenson's technique for Hirschsprung's disease Methods 39 children who had undergone Swenson pull-through were retrospectively reviewed.The patients were divided into 2 groups:open Swenson(n=20),laparoscopic procdeures(n=19). Use of laparoscopic equipment,operating time,hospital day,intraoperative blood loss,cost of hospital and postoperative complications were chosen as itews for comparisiom. Results The patienst in open Swenson passed stool and flatus in (78?28) hours and those in laparoscopic procedures did in (27?7) hours(t=2.87, P0.05),no major complications were found Conclusions The therapeutic results of laparoscopic-assisted coloc pull-through are similar to those of open and this procedure is economical.It appears to reduce postperative intestinal adhesion and postoperative recovery time dramatically, has smaller incision and renders itself more acceptable by the parents.