Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.

OBJECTIVE: To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province. METHODS: A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively. The hematological characteristics of patients with the deletional β-thalassemia were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)]. RESULTS: A total of 384 cases of the three common deletional β-thalassemia were identified, including 184 cases of Chinese Gγ⁺(Aγδβ)⁰, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Chinese Taiwanese, for a total detection rate of 28.76%. Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A2 levels in patients with Chinese Gγ⁺(Aγδβ)⁰, the levels of Hb A2 in patients with the other two deletional β-thalassemia were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A2 and Hb F values among the groups of the three common deletional β-thalassemia heterozygotes (P < 0.05). According to the type of gene variation, 180 patients with Chinese Gγ⁺(Aγδβ)⁰ heterozygotes were divided into three groups, including αα/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (149), -α/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (14), and --/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β^N (150), -α/αα, SEA-HPFH/β^N (12), and --/αα, SEA-HPFH/β^N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁰-thalassemia group were significantly lower than those of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁺-thalassemia group and the control group (P < 0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α⁰-thalassemia group were significantly lower than those of the SEA-HPFH combined with α⁺-thalassemia group and the control group (P < 0.05). CONCLUSION The above research results can not only enhance the ability of clinicians to identify deletional β-thalassemia and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thalassemia prevention and control programme and the development of prenatal and postnatal care.
Humans ; beta-Thalassemia/complications* ; alpha-Thalassemia/complications* ; Female ; China ; Male ; Adult ; Fetal Hemoglobin/genetics* ; Adolescent ; Young Adult

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.

Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99％,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

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.
Gene Deletion ; Homozygote ; Humans ; Multigene Family/genetics* ; Phenotype ; beta-Thalassemia/genetics*

OBJECTIVETo explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province.

METHODSA 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.

RESULTSThe 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).

CONCLUSIONHb 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.

UNLABELLEDOBJECTIVE To evaluate the aesthetic effect of restorations with custom pressable metal ceramic abutments for defective soft and hard tissue in the maxillary anterior zone.

METHODSFifty-two patients with missing anterior teeth in the maxillar were selected, who had problems such as exposure of abutment metal, excessively large angle deviation, excessively long ceramic crown and missing gingival papilla, affecting the aesthetic effect of implant denture. Custom pressable metal ceramic abutments were made on the conventional castable metal abutment surface and restored with all-ceramic crowns to overcome the blackness at the implant neck.

RESULTSClinical evaluation for aesthetic effects 3 and 6 months after the restorations were placed. In 63 restorations of 52 patients, the blackness at the implant neck were eliminated and the aesthetic effect were ideal. The gingival was in healthy condition, showing no further gingival retreat or inflammation around the implant denture.

CONCLUSIONCustom pressable metal ceramic abutments can effectively improve the aesthetic appearance of the implant denture in maxillary anterior zone.

Ceramics ; Crowns ; Dental Abutments ; Dental Implants ; Dental Porcelain ; Esthetics ; Humans ; Maxilla ; Metals

Plantaris bend malformation of ankle joint,a serious epiphenomenon will occurs when patients lie on bed for a long time.A new type of ankle joint movement device is studied.Powered by electric motor with giant torque and super low velocity and controlled by timing controlling circuit,this device enable the ankle joint a 20?～ 30?back stretch and 40?～ 50?plantaris bend.Furthermore,it can set different moving angle and time according to individual conditions and can perform slow,continuous and reciprocating motion for different actual need.Patients whose ankle joints are unable or difficult to move actively can benefit from this device in preventing plantaris bend malformation of ankle joint,ankle joint stiffness and muscle atrophy of lower limb.