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1.
Journal of Experimental Hematology ; (6): 1561-1565, 2021.
Article in Chinese | WPRIM | ID: wpr-922295

ABSTRACT

OBJECTIVE@#To perform dried blood spots thalassemia gene detection in patients with positive blood phenotypes by microarray technology, and evaluate its value in clinical detection.@*METHODS@#DNA samples were extracted from dried blood spots of 410 patients. Microarray technology was used to detect 3 deletion and 3 non-deletion types of α-thalassemia and 19 β-thalassemia point mutations which were common gene mutions in China.@*RESULTS@#There were 357 positive cases in all the 410 tested samples with the positive rate 87.07%, among which 299 cases (72.93%) carried deletion or point mutations of α-thalassemia, 29 cases (7.07%) carried point mutations of β-thalassemia and 29 cases (7.07%) carried gene mutations of complex αβ-thalassemia syndrome. The mutations of α-thalassemia were involved with --@*CONCLUSION@#The most common genetic mutations are --


Subject(s)
China , Humans , Mutation , Oligonucleotide Array Sequence Analysis , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
2.
Journal of Experimental Hematology ; (6): 1555-1560, 2021.
Article in Chinese | WPRIM | ID: wpr-922294

ABSTRACT

OBJECTIVE@#To observe the genotypes and composition ratio of thalassemia in couples of reproductive age, and provide a reference for the prevention and control of thalassemia in Haikou.@*METHODS@#Gene diagnosis was performed in 2 494 subjects who were screened for thalassemia before marriage or prenatal by cross-breakpoint PCR, PCR-reverse dot hybridization, and PCR-electrophoresis.@*RESULTS@#A total of 1 037 thalassemia gene carriers were detected in 2 494 samples, with a detection rate of 41.57%, of which 75.02% was α-thalassemia, 18.61% was β-thalassemia, and 6.36% was α-β complex thalassemia. There were 778 cases of α-thalassemia, mainly of deletion type, accounting for 76.99% (599/778). Twenty genotypes were detected, the highest three was --@*CONCLUSION@#In Haikou city, the gene carrying rate of thalassemia is very high, and the genotype distribution is different from other cities in Hainan Province, attention should be paid to the impact of population inflow on the frequency spectrum change of local thalassemia gene.


Subject(s)
Cities , Female , Genetic Testing , Genotype , Humans , Pregnancy , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
3.
Journal of Experimental Hematology ; (6): 1907-1910, 2021.
Article in Chinese | WPRIM | ID: wpr-922222

ABSTRACT

OBJECTIVE@#To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.@*METHODS@#Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia.@*RESULTS@#Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively.@*CONCLUSION@#The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.


Subject(s)
Genetic Testing , Humans , Multiplex Polymerase Chain Reaction , Oligonucleotide Array Sequence Analysis , alpha-Thalassemia/genetics
4.
Journal of Experimental Hematology ; (6): 1903-1906, 2021.
Article in Chinese | WPRIM | ID: wpr-922221

ABSTRACT

OBJECTIVE@#To research the relationship between difference types of α-thalassemia gene types and Hb Bart's hemoglobin bands.@*METHODS@#Capillary electrophoresis was used to screen thalassemia gene for the newborn form January 2020 to December 2020, and the thalassemia gene was detected by PCR or PCR-NGS in the positive patients. The relationship between α-thalassemia gene and Hb Bart's hemoglobin was compared and analyzed statistically.@*RESULTS@#There were significant differences in Hb Bart's hemoglobin among the different α-thalassemia mutation types, Hb Bart's was the highest in --SEA/-α@*CONCLUSION@#The Hb Bart's content of different genotypes of α-thalassemia are significantly different. The Hb Bart's content shows high application value in α-thalassemia screening and genotyping identification.


Subject(s)
Hemoglobins, Abnormal/genetics , Heterozygote , Humans , Infant, Newborn , Polymerase Chain Reaction , alpha-Thalassemia/genetics
5.
Journal of Experimental Hematology ; (6): 1892-1895, 2021.
Article in Chinese | WPRIM | ID: wpr-922219

ABSTRACT

OBJECTIVE@#To investigate the types and frequencies of thalassemia genes carried by the pregnant women in Guilin, Guangxi Zhuang Autonomous Region, China.@*METHODS@#From January 2015 to December 2019, blood samples of the pregnant women who visited the Outpatients of Obstetrics clinic and Eugenics Genetic clinic in Affiliated Hospital of Guilin Medical University were collected. Gap-PCR was used to detect deletional α-thalassemia, PCR-RDB to detect the gene mutations of non-deletional α-thalassemia and β-thalassemia, and MLPA or DNA sequencing to detect rare thalassemia mutations. Different types and frequencies of thalassemia mutations carried by pregnant women were analyzed statistically.@*RESULTS@#A total of 19 482 blood samples were collected, including 3 801 thalassemia gene carriers (19.51%). Seven types of α-thalassemia gene mutation were detected with a carrier rate of 15.43%. Among them, --@*CONCLUSION@#Guilin is a high-risk area for thalassemia. Alpha-thalassemia is dominated by --


Subject(s)
China , Female , Genotype , Heterozygote , Humans , Pregnancy , Pregnant Women , alpha-Thalassemia/genetics
6.
Journal of Experimental Hematology ; (6): 1887-1891, 2021.
Article in Chinese | WPRIM | ID: wpr-922218

ABSTRACT

OBJECTIVE@#To investigate the genetic mutation types and ethnic distribution characteristics of thalassemia in Guiyang.@*METHODS@#The population underwent physical examination, antenatal examination and pre-pregnancy examination in our hospital from January 2019 to November 2019 was selected, and the thalassemia gene was detected by RDB-PCR.@*RESULTS@#Among the 4 572 samples, 346 were positive , and the total carrying rate was 7.57%. The carrying rate of α-thalassaemia gene was 5.42% (248 cases), while β-thalassemia was 1.99% (91 cases), and α+β-compound thalassemia was 0.15% (7 cases). α-thalassaemia genotype with the lack of right side -α@*CONCLUSION@#The gene types of thalassemia in Guiyang are complex and varied. The -α


Subject(s)
China , Ethnic Groups , Female , Humans , Mutation , Pregnancy , alpha-Thalassemia/genetics
7.
Journal of Experimental Hematology ; (6): 1875-1880, 2021.
Article in Chinese | WPRIM | ID: wpr-922216

ABSTRACT

OBJECTIVE@#To investigate the genotypes and clinical characteristics of thalassemia on children in Wuhan region.@*METHODS@#A total of 159 patients diagnosed as thalassemia in Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology from December 2017 to December 2019. The patients were retrospectively analyzed for their types of mutations, detection rates and clinical characteristics.@*RESULTS@#Among the 422 samples, 159 samples were finally diagnosed as thalassemia through genetic testing, the total detection rate was 37.68%. The detection rate of α, β and αβ-thalassemia was 17.30%, 20.14% and 0.24% respectively. Among α-thalassemia, αα/-SEA was the most common one, with a composition ratio of 68.49%(50/73), followed by αα/-α3.7 (19.18%), αα/-α4.2 (6.85%) and αα/ QS (1.37%). 9 types of β-thalassemia gene mutations were detected, and the most common three mutations were IVSII-654(C→T), with a composition ratio of 40.00%, CD41-42(-TTCT) (20.00%) and CD17(A→T)(16.47%). Two novel mutations of β-thalassemia, HBB: c.92-2A>T and HBB:c.-23A>G were detected. Among all the positive patients, 134 (84.28%) were 0-3 years old, 19 (11.95%) were 4-6 years old, and 6 (3.77%) were 7 years of age or older. There were 147 patients with mild anemia (92.45%), 11 patients with moderate anemia (6.92%), and 1 patients with severe anemia (0.63%). The MCV of 94(59.12%) patients was lower than 65 fL, and that of 51(32.08%) patients was between 65 fL and 80 fL, while 14(8.81%) patients was higher than 80 fL. MCV in β-thalassemia group was lower than that in α-thalassemia group, and the difference showed statistically significant (P<0.05).@*CONCLUSION@#The genotypes of thalassemia in children in Wuhan area are diverse, and most of them are mild thalassemia, and diagnosed under 3 years old. Children with β-thalassemia have smaller red blood cell volumes than those with α-thalassemia.


Subject(s)
Child , Child, Preschool , Genetic Testing , Genotype , Humans , Infant , Infant, Newborn , Retrospective Studies , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
8.
Article in English | WPRIM | ID: wpr-921335

ABSTRACT

Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia. To investigate molecular characteristics of α- and β-thalassemia among young individuals of marriageable age in Guangdong Province, 24,788 subjects with suspected thalassemia were genetically tested for α- and β-thalassemia by Gap-PCR and reverse dot blot during 2018-2019. For suspected rare thalassemia cases, DNA sequencing was performed to identify rare and unknown thalassemia gene mutations. A total of 14,346 thalassemia carriers were detected, including 7,556 cases of α-thalassemia with 25 genotypes and 8 α-gene mutations identified, 5,860 cases of β-thalassemia with 18 genotypes and 18 β-gene mutations identified, and 930 cases of compound α/β-thalassemia. Among them, the frequency of --


Subject(s)
Adult , China , Female , Genotype , Humans , Male , Middle Aged , Mutation , Sequence Analysis, DNA , Young Adult , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
9.
Journal of Experimental Hematology ; (6): 1266-1270, 2021.
Article in Chinese | WPRIM | ID: wpr-888550

ABSTRACT

OBJECTIVE@#To analyze the genotypes and distribution of thalassemia in children in Quanzhou Region so as to provide reference for the prevention and control of thalassemia.@*METHODS@#A total of 1 302 children with suspected thalassemia were collected from January 2014 to April 2020 in Quanzhou Region. The deletional α-thalassemia was detected by Gap-PCR, and DNA reverse dot blot (RDB) hybridization was used to detect α- and β-thalassemia mutations.@*RESULTS@#In the 1 302 cases, 667 cases were identified as thalassemia carriers, and the positive detection rate was about 51.23%. Among them, 380 cases of α-thalassemia gene were detected, and --@*CONCLUSION@#There are various genotypes of thalassemia in children in Quanzhou Region, and many children with thalassemia major or intermedia. Therefore, further prevention and control of thalassemia need to be strengthened for reducing the birth of thalassemia major or intermedia.


Subject(s)
Child , China , Genetic Testing , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
10.
Journal of Experimental Hematology ; (6): 1262-1265, 2021.
Article in Chinese | WPRIM | ID: wpr-888549

ABSTRACT

OBJECTIVE@#To explore the differences between hematological phenotypes of patients with different genotypes in gene mutations and deletion α- thalassemia.@*METHODS@#By screening the α- thalassemia gene test results in the First Affiliated Hospital, Sun Yat-Sen University from January 2015 to April 2020, the patients with mutation and deletion α- thalassemia were obtained, then the differences between hematological phenotypes of patients with different genotypes were analyzed.@*RESULTS@#There were 96 patients with mutation combined with deletion α- thalassemia from the results of 24 054 α- thalassemia patients screened out, including 79 patients with non-deletion Hb H disease (α@*CONCLUSION@#The hematological phenotype changes caused by α


Subject(s)
Genotype , Humans , Mutation , Phenotype , Retrospective Studies , alpha-Thalassemia/genetics
11.
Article in English | WPRIM | ID: wpr-888491

ABSTRACT

OBJECTIVES@#To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.@*METHODS@#A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.@*RESULTS@#Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --@*CONCLUSIONS@#There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --


Subject(s)
Child , China/epidemiology , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
12.
Article in Chinese | WPRIM | ID: wpr-879512

ABSTRACT

OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α


Subject(s)
Anemia, Hypochromic/genetics , Codon, Initiator/genetics , Female , Genetic Counseling , Genetic Variation , Genotype , Humans , Male , Mutation , Pregnancy , Prenatal Diagnosis , alpha-Globins/genetics , alpha-Thalassemia/genetics
13.
Article in Chinese | WPRIM | ID: wpr-880160

ABSTRACT

OBJECTIVE@#To understand the genotypes and distribution characteristics of thalassemia in Baise, Guangxi Zhuang Autonomous Region, to provide references for the prevention and diagnosis of thalassemia in the region and improve the quality of eugenics.@*METHODS@#3 482 pregnant women and their spouses from January 2019 to August 2019 in Baise Maternal and Child Health Hospital for prenatal genetic diagnosis were selected, α, β- thalassemia genes were detected by Gap-PCR, PCR and DNA reverse dot hybridization, cases carrying thalassemia gene were confirmed and statistical analyzed.@*RESULTS@#2 260 samples (64.90%) carrying thalassemia gene were found, among which 1 459 cases (64.56%) were diagnosed as α- thalassemia, 617 cases (27.30%) as β- thalassemia, 184 cases (8.14%) as α complex β- thalassemia. Among 1 459 α- thalassemia genes, --SEA /αα(637 cases, 43.66%), -α3.7 /αα (306 cases, 20.97%), -αCS /αα(143 cases, 9.80%), -α4.2 /αα(124 cases, 8.50%) and -αWS /αα(77 cases, 5.27%) were the most common, while among 617 β- thalassemia genes, CD17 (229 cases, 37.12%), CD41-42 (213 cases, 34.52%), IVS-I-1 (41 cases, 6.65%), βE (38 cases, 6.16%) and CD71-72 (34 cases, 5.51%) were the most common. And --SEA /αα/ CD17 (24 cases, 13.04%), -α4.2 /αα/ CD17 (13 cases, 7.07%), -α3.7 /αα/ CD41-42 (12 cases, 6.52% ) and --SEA /αα/ CD41-42 (12 cases, 6.52%) were mainly found in 184 cases of α complex β - thalassemia.@*CONCLUSION@#Genotyes of thalassemia in Baise, Guangxi Zhuang Autonomous Region are complex and diverse. The prenatal screening and diagnosis of thalassemia in the region should be strengthened in accordance with the characteristics of genetypes in the region, in order to reduce birth defects and improve eugenics quality.


Subject(s)
Child , China , Female , Genotype , Humans , Mutation , Pregnancy , Prenatal Diagnosis , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
14.
Article in Chinese | WPRIM | ID: wpr-880159

ABSTRACT

OBJECTIVE@#To analyze the gene defect types and distribution characteristics of α- and β-thalassemia in Lingui District of Guilin City, Guangxi, so as to provide scientific basis for genetic consultation and prevention measures.@*METHODS@#A total of 6 496 suspected cases for screening the thalassemia during physical examination, premarital examination, pregnancy examination and hospitalization in the Second Affiliated Hospital of Guilin Medical University from May 2016 to October 2019 were analyzed. Gap-PCR, PCR-RDB and DNA sequencing techniques were used to detect the types and constituent ratios of gene defects in α- and β-thalassemia positive cases.@*RESULTS@#Among 6 496 suspected patients, 1 363 were thalassemia carriers, the total positive rate was 20.98%. There were 677 cases of single-gene deletion and 26 cases of double-gene detetion on the deletional α-thalassemia, 115 cases of non-deletion α-thalassemia mutation and 4 cases of deletion plus mutation. The positive rate of α-thalassemia was 12.66%. There were 11 gene abnormalities for α-thalassemia, of which --@*CONCLUSION@#Lingui district of Guilin city is a high incidence area of thalassemia. The mutation rate of α-thalassemia --


Subject(s)
China/epidemiology , Female , Genotype , Heterozygote , Humans , Mutation , Pregnancy , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
15.
Article in Chinese | WPRIM | ID: wpr-880119

ABSTRACT

OBJECTIVE@#To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.@*METHODS@#The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.@*RESULTS@#Among the 1 016 samples, 141(13.88%) of the patients were diagnosed as α-thalassemia. The α-thalassemia was subdivided into 3 types, silent (36.17%), minor (51.77%), and HbH disease (12.06%), and the MCV, MCH and HB levels were detected and showed a obvious decrease trend with significant difference (P < 0.05). The gene mutation types were 9 kinds, the deletion type gene was mainly --SEA (51.06%), followed by -α@*CONCLUSION@#Alpha-thalassemia in Honghe prefecture of Yunnan Province shows complex genetic diversity and significant genetic heterogeneity, and the mainly type of gene mutation is --SEA and --


Subject(s)
China , Female , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia
16.
Article in Chinese | WPRIM | ID: wpr-880058

ABSTRACT

OBJECTIVE@#To explore the value of PCR-flow fluorenscence immunmicrobeads assay in prenatal gene diagnosis of thalassemia.@*METHODS@#A total of 1001 pregnant women and their couples checked in the First Affiliated Hospital of Sun Yat-Sen University from January 2016 to August 2019 were selected. Both pregnant women and their spouses were the carriers of thalassemia gene. Samples such as amniotic fluid, were used to extract genomic DNA at the right time. Parallel detection of α- and β- thalassemia genes to samples should be carried out by PCR-flow cytometric fluorescence hybridization and traditional multiple Gap-PCR and PCR-RDB techniques. The consistency of two methods in gene diagnosis of thalassemia was evaluated by analyzing the results of detection.@*RESULTS@#389 normal genotypes (38.86%, 389/1001) and 59 abnormal genotypes (61.14%, 612/1001) was cheked out by the two methods, including 416 cases of α-thalassemia, 162 cases of β-thalassemia and 34 cases of αβ- complex thalassemia. The main genotypes of α-thalassemia were --@*CONCLUSION@#Guangzhou is a area with high incidence of thalassemia, and the genetic types of thalassemia are complex and diverse. Prenatal diagnosis is the final barrier to the prevention of thalassemia. PCR flow-cytometric fluorescence hybridization, as a simple and fast technique, combined with traditional techniques in parallel contributed to the accuracy of prenatal gene diagnosis of thalassemia.


Subject(s)
China , Female , Genotype , Humans , Mutation , Polymerase Chain Reaction , Pregnancy , Prenatal Diagnosis , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
17.
Article in Chinese | WPRIM | ID: wpr-880057

ABSTRACT

OBJECTIVE@#To explore the diagnostic value of HBA@*METHODS@#1 178 couples in the department of women's health of Chongqing maternal and child health hospital were selected for pregnancy examination. Peripheral venous blood was extracted and analyzed for parallel blood routine test, hemoglobin capillary electrophoresis and thalassemia gene detection.@*RESULTS@#A total of 265 cases of thalassemia gene carriers were screened out in 1 178 couples; 91.3% β@*CONCLUSION@#HBA


Subject(s)
Child , Female , Hematologic Tests , Hemoglobin A2/analysis , Humans , Mass Screening , Pregnancy , alpha-Thalassemia/genetics , beta-Thalassemia/diagnosis
18.
Article in Chinese | WPRIM | ID: wpr-880051

ABSTRACT

OBJECTIVE@#To understand the carrying rate, gene mutation frequency and composition ratio of thalassemia in pregnant women in Suxian and Beihu districts of Chenzhou, Hunan Province.@*METHODS@#Thalassemia gene in 11 212 samples was analyzed by using Next-Generation Sequencing.@*RESULTS@#Among the 11 212 samples, 938 were diagnosed as thalassemia, in which 618 (5.51%) were diagnosed as α-thalassemia, 268 (2.39%) as β-thalassemia, 29(0.26%)as abnormal hemoglobin and 23 (0.21%) as αβ-thalassemia. The gene mutations of --SEA /αα(40.29%) and -α3.7/αα(37.7%) in α-thalassemia were the most common, while for β- thalassemia, the most commonly gene mutation were β41-42M/βN(24.26%) and β654M/βN(23.88%). The detection rate of rare type α,β-thalassemia gene was 0.19%(21/11 212), 0.53%(59/11 212), respectively.@*CONCLUSION@#The carrying rate of thalassemia in pregnant women is 8.37% in Suxian and Beihu districts of Chenzhou city, and the genotypes are complex. Next-Generation Sequencing can detect rare thalassemia genes and new gene mutations effectively.


Subject(s)
China , Female , Genotype , Hemoglobins, Abnormal , High-Throughput Nucleotide Sequencing , Humans , Mutation , Pregnancy , Pregnant Women , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
19.
Journal of Experimental Hematology ; (6): 2028-2032, 2020.
Article in Chinese | WPRIM | ID: wpr-880010

ABSTRACT

OBJECTIVE@#To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.@*METHODS@#RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.@*RESULTS@#Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A@*CONCLUSION@#The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.


Subject(s)
Anemia, Hypochromic , Hemoglobins, Abnormal/genetics , Heterozygote , Humans , alpha-Thalassemia/genetics , beta-Thalassemia
20.
Journal of Experimental Hematology ; (6): 2022-2027, 2020.
Article in Chinese | WPRIM | ID: wpr-880009

ABSTRACT

OBJECTIVE@#To investigate the clinical features of pregnant women with thalassemia in non endemic area, and to prevent the births of babies with intermedia or major thalassemia.@*METHODS@#Two hundred and thirty-five pregnants women with thalassemia diagnosed from March 2015 to April 2016 in our hospital were enrolled and retrospectively analysed. The blood routine and hemoglobin electrophoresis were performed respectively by XN-9000 automatic blood cell analyzer and HYDRASYS hemoglobin electrophoresis apparatus. The three commonest deletion of α-thalassemia, the three non-deletion α-thalassemia and 21 known β-thalassemia mutation were all detected by fluorescence melting curve analysis.@*RESULTS@#Among 235 pregnant women of thalassemia, the majority were β-thalassemia, which were followed by α-thalassemia and composite thalassemia. Most pregnant women showed a mild anemia, and suffered from microcytic anemia, but less suffered from iron deficiency anemia. The ratio of second-child pregnant women was increased, and the ratio was close to one third both in α-thalassemia and β-thalassemia patients, and 75% patients were composite thalassemia. HbF was found to be more in native pregnant women with β-thalassemia. Hemoglobin isomer was easy to found in the pregnant with α-thalassemia, and they were all non native. The genotype of --@*CONCLUSION@#More pregnant women with thalassemia are founded to be in non endemic area, and shows their own unique clinical features. It is certainly to detect thalassemia mutation in their spouse and their babies, to prevent the births of babies with intermedia or major thalassemia.


Subject(s)
Child , Female , Genotype , Humans , Infant , Mutation , Pregnancy , Pregnant Women , Retrospective Studies , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
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