Gene Diagnosis and Analysis of Clinical Hematological Phenotype of Thailand Deleted α-Thalassemia 1 / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the hematologic characteristics and gene diagnosis of patients with Thailand deleted α-thalassemia 1, so as to provide the information for clinical genetic counseling.</p><p><b>METHODS</b>The clinical data of 32 patients with Thailand delated α-thalassemia 1 were analyzed retrospectively; the hematologic characteristics and gene diagnosis of Thailand deleted type were investigated by using routine hematologic examination, genetic detection of common thalassemia and Thailand deleted α-thalassemia 1.</p><p><b>RESULTS</b>Among 32 cases, the Thailand deleted α-thalassemia 1 heterozygote was found in 29 cases, the Thailand deleted α-thalassemia 1 and α(3.7) gene deletion double heterozygote were found in 1 case, the Thailand deleted α-thalassemia 1 with β-thalassemia (1 case with codons 41-42 mutation heterozygous, 1 case with CD17 mutation heterozygous) was found in 2 cases by detection. The MCV and MCH levels were decreased in all cases of Thailand deleted thalassemia 1, there were significant differences in RBC, MCV, MCH (P<0.05) between normal control and Thailand deletion α-thalassemia 1 group; there were also significant differences in MCHC (P<0.05) between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group.</p><p><b>CONCLUSION</b>There are no significant differences in hematological parameters except MCHC between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. moreover the Thailand deleted α-thalassemia 1 in a certain proportion exists in area with high incidence of thalassemia, therefor the clinicians should pay more attention to the screen and diagnosis of Thailand delated α-thalassemia and can exactly diagnose the Thailand delected α-thalassemia 1 on the basis of comprehensive analysis of conventional and Thailand delected α-thalassemia 1 detection results, clinical presentation, hematologic parameters and ultrasonic examination, so as to avoid the birth of child with severe and intermidiate type α-thalassemia caused by Thailand deleted α-thalassemia 1.</p>

Molecular epidemiological analysis of α- and β-thalassemia in Fujian province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the gene prevalence and spectrum of alpha- and beta-thalassemia in Fujian province.</p><p><b>METHODS</b>A total of 11 234 of neonatal cord blood samples were collected for a prevalence study of alpha- and beta-thalassemia. All subjects included in this study were registered in 9 cities of Fujian province. A complete blood count and high performance liquid chromatography (HPLC) were performed in all samples, with microcytosis (MCV≤ 79 f1 and MCH≤ 27 pg) or HPLC positive cases further studied by DNA analysis. alpha- and beta-thalassemia were determined by using gap-PCR and reverse dot blot (RDB) assays. Unknown positive samples were analyzed directly with DNA sequencing.</p><p><b>RESULTS</b>Of all 11 234 cord blood samples, 356 were identified as from alpha-thalassemia gene carriers, 7 deletion genotypes were identified including 236 (--SEA/ α α) cases, 67 (α 3.7/ α α) cases, 24 (alpha 4.2/alpha alpha) cases, 3 (alpha 3.7/ SEA) cases, 1 (alpha 4.2/ SEA) cases, 1 (alpha 3.7/ alpha 3.7) cases, 1 (alpha 3.7/ alpha 4.2) cases; 3 non-deletion genotypes were detected, including 7 (alpha alpha QS/ alpha alpha) cases, 3 (α α CS/α α) cases, 2 (α α WS/ α α) cases, the most common mutation was SEA/α α, which accounted for 66.29%, 148 individuals were found to have beta-hemoglobin gene mutations. 12 different mutations were identified, namely 65 IVS-2 654 (C>T) cases, 40 CD41-42(-TCTT, 12 CD17(A>T) cases, 10 -28(A>G) cases,7 CD27-28(+C) cases, 5 start codon ATG>AGG cases, 2 CD26(G>A) cases, 1 CD71-72(+A) cases, 1 IVS-1-1(G>T) cases, 1 CD43(G>T) cases, 2 -29(A>G) cases, 2 Codon 36 (-C) cases, the most common mutation was IVS-2 654(C>T) and CD41-42(-TCTT), which accounted for 70.95%. A novel beta-globin gene mutation CD36 (-C) allele was also detected. The carrier rate of thalassemia in Fujian population is 4.41%. In addition, 9 beta-thalassemia carriers were found with alpha-thalassemia mutation.</p><p><b>CONCLUSION</b>The research has revealed the type of gene mutations in alpha- and beta-talassemia in Fujian province. The beta-thalassemia mutations in Fujian province are complex, which were also obviously heterogeneous. This will significant value for screening the incidence, provide the valuable information for genetic counseling and prenatal diagnosis.</p>

Analysis of β-thalassemia mutations in Fujian province / 中国地方病学杂志

ObjectiveTo explore the prevalence and spectrum of β-thalassemia mutations in Fujian province,and to provide a reference for prenatal diagnosis and genetic counseling in this population.Methods Two thousand three hundred and one blood samples were randomly selected from 9 different areas of Fujian province from May 2008 to December 2010.PCR and reverse dot blot hybridization (RDB) were adopted for detection of the 17 common types of mutation,and the frequency of each genotype of β-thalassemia mutations was calculated.The β-globin gene of unknown positive samples were analyzed directly with DNA sequencing.Results Three hundred and fifty-nine cases were detected with β-thalassemia mutations of the 2301 copy blood samples submitted,and the detection rate was 15.60％ (359/2301).Of the mutated genes,12 different mutations were identified,namely IVS-2-654(C→T),CD41-42(-TCTT),CD17(A→T),-28(A→G),CD27-28(+C),CD26(G→A),CD71-72(+A),IVS-1-1(G→T),CD43(G→T),-29(A→G),initiation codon ATG→AGG and CD36(-C).Mutation frequencies were 46.54％ (175/376),33.24％ (125/376),9.31％ (35/376),5.05％ (19/376),2.13％(8/376),1.33％(5/376),0.80％(3/376),0.27％(1/376),0.27％(1/376),0.27％(1/376),0.53％(2/376),and 0.27％(1/376),respectively.The most common mutations were IVS-2-654 (C→T) and CD41-42 (-TCTT),which accounted for 79.78％(300/376) of total genetic mutations.In addition,a novel β-globin gene mutation CD36 (-C) allele was detected for the first time,the deletion of a nucleotide C at code 36 within exon 2 lead to a frameshift mutation that could result in a premature termination at code 60.Conclusions β-thalassemia mutations in Fujian province are complex with significant genetic heterogeneity.We present for the first time the detection of a new β-thalassemia mutation in the population:CD36(-C),which provides valuable information for genetic counseling and prenatal diagnosis in Fujian province.