The hyper-methemoglobinemia causes the oxygen transfer disorder. The clinical symptoms depends on the level of methemoylobinemia. Hypermethemoglobinemia can be congenital or acquired hypermethemoglobinemia. The congenital hypermethemoglobinemia caused by partial or total methemoglobine reeducates deficiency in patients with rare genetic heterozygous enzyme deficiency due to the abnormal hemoglobin. The acquired hypermethemoglobinemia occurred after exposure to colour compound, food and drinking water with nitrate or drugs. The determination of causative agent of hypermethemoglobin help treating more effectively
Methemoglobin ; Hemoglobins, Abnormal ; Therapeutics ; Methemoglobinemia

Humans ; Hemoglobinopathies ; Hemoglobins, Abnormal/genetics*

Humans ; Hemoglobinopathies ; Hemoglobins, Abnormal/genetics* ; Oxygen

Hemoglobins, Abnormal ; Humans ; Singapore/epidemiology* ; alpha-Thalassemia

Hemoglobins, Abnormal ; Humans ; alpha-Thalassemia ; complications ; beta-Thalassemia ; complications

Chromatography, Ion Exchange ; Hemoglobins, Abnormal ; analysis ; Humans ; Male

Chromatography, Ion Exchange ; Hemoglobins, Abnormal ; analysis ; Humans ; Male

OBJECTIVE: To explore the hematological phenotype and genotype of hemoglobin Q-Thailand in Fujian area. METHODS: Genomic DNA was extracted from peripheral venous blood samples of patients. Suspected samples were screened by hematological parameters analysis and verified with DNA sequencing. RESULTS: In 35 patients suspected with Hb Q-Thailand, 20 were confirmed, which included one case compounded with heterozygous β mutation and one compounded with Hb New York. CONCLUSION Analysis of hematological phenotype and genotype of Hb Q-Thailand can faciliate genetic counseling for patients from Fujian area.
China ; Genotype ; Hemoglobins, Abnormal ; genetics ; Heterozygote ; Humans ; Mutation ; Phenotype

Genome editing tools such as the clustered regularly interspaced short palindromic repeat (CRISPR)-associated system (Cas) have been widely used to modify genes in model systems including animal zygotes and human cells, and hold tremendous promise for both basic research and clinical applications. To date, a serious knowledge gap remains in our understanding of DNA repair mechanisms in human early embryos, and in the efficiency and potential off-target effects of using technologies such as CRISPR/Cas9 in human pre-implantation embryos. In this report, we used tripronuclear (3PN) zygotes to further investigate CRISPR/Cas9-mediated gene editing in human cells. We found that CRISPR/Cas9 could effectively cleave the endogenous β-globin gene (HBB). However, the efficiency of homologous recombination directed repair (HDR) of HBB was low and the edited embryos were mosaic. Off-target cleavage was also apparent in these 3PN zygotes as revealed by the T7E1 assay and whole-exome sequencing. Furthermore, the endogenous delta-globin gene (HBD), which is homologous to HBB, competed with exogenous donor oligos to act as the repair template, leading to untoward mutations. Our data also indicated that repair of the HBB locus in these embryos occurred preferentially through the non-crossover HDR pathway. Taken together, our work highlights the pressing need to further improve the fidelity and specificity of the CRISPR/Cas9 platform, a prerequisite for any clinical applications of CRSIPR/Cas9-mediated editing.
Blastocyst ; CRISPR-Cas Systems ; Hemoglobins, Abnormal ; genetics ; metabolism ; Humans ; Zygote

OBJECTIVE: To explore the abnormal hemoglobinopathy in couples of child-bearing age in Chongqing. METHODS: A total of 34 800 subjects of child-bearing age were screened for thalassemia by using capillary electrophoresis from January 2015 to September 2018. PCR-flow cytometry fluorescence hybridization assay was used to detect the common thalassemia gene deletions and mutations. RESULTS: 8 kinds of abnormal hemoglobinopathy were detected in 200 cases from 34 800 subjects of child-bearing age, the detection rate was 0.57% in couples of child-bearing age in Chongqing: Among 200 cases of abnormal hemoglobin pathy, Hb E was found in 90 cases (accounting for 45.0%), and Hb D in 25 cases (accounting for 12.5%). Hb NewYork was found in 25 cases (accounting for 12.5%). HbJ-bangkok was found in 25 cases (accounting for 12.5%), and Hb Q-Thailand in 16 cases (accounting for 8.0%). Hb Hope was detected in 15 cases (accounting for 7.5%). Hb S was detected in 3 cases (accounting for 1.5%). Hb Hasharon was detected in 1 case (accounting for 0.5%). The mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of Hb E and Hb Q-Thailand were lower than normal reference intervals. CONCLUSION The detection rate of abnormal hemoglobinopathy in Chongqing is higher than the average level in China. Capillary electrophoresis can effectively screen abnormal hemoglobinopathy, which is great significant for aristogenesis and improvement of population quality.
Child ; China ; Electrophoresis, Capillary ; Hemoglobinopathies ; Hemoglobins, Abnormal ; Humans ; Thailand ; Thalassemia