Genotype and Phenotype of α-Thalassemia Fusion Gene in Huadu District of Guangzhou, Guangdong Province of China / 中国实验血液学杂志

OBJECTIVE@#To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia.@*METHODS@#A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB).@*RESULTS@#A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found.@*CONCLUSION@#The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.

Clinical and molecular characteristics of hemoglobin New York in Guangxi populations / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the clinical and molecular characteristics of hemoglobin New York in populations from Guangxi and provide reference data for screening thalassemia.</p><p><b>METHODS</b>A total of 30 691 samples were screened by capillary electrophoresis, and then suspicious samples of Hb New York were identified by DNA sequencing and analysis of blood cell count. Gap-PCR and reverse dot blot hybridization method were used for the detection of common mutations of α and β thalassemia in Chinese.</p><p><b>RESULTS</b>The incidence of Hb New York was 0.12% in Guangxi. The hematological phenotype index (MCV, MCH, Hb New York, Hb A2) of 32 Hb New York heterozygous cases were (91.00±5.19)fl, (29.42±2.04)pg, (44.10±3.12)% and (2.80±0.29)% , respectively. The hematological phenotype index of 4 Hb New York composited SEA heterozygous patients were (68.20±5.26) fl, (21.78±2.15) pg, (36.60±2.00)% and (2.90±0.14)% , of 2 Hb New York composited WS heterozygous patients were (83.90±2.69) fl, (27.70±1.70) pg, (39.70±1.70)% and (3.50±0.21)%. There were statistical differences between three groups (P<0.05). HGB, MCV and MCH of Hb New York heterozygous and Hb New York composited WS heterozygous were normal, and patients with Hb New York composited SEA heterozygous showed mild anemia, decreased MCV and MCH.</p><p><b>CONCLUSION</b>Most of Hb New York were heterozygous and no homozygotes in Guangxi. There were different hematological characteristics in different Hb New York heterozygous patients. Hb New York heterozygous had normal hematological phenotype, ant combined with other types of thalassemia could exhibit symptoms such as anemia.</p>

Phenotype and genotype analysis of hemoglobin E / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the genotype and phenotype correlation in the hemoglobin E (HbE) carriers, and to investigate the effect of HbE on hematological parameters.</p><p><b>METHODS</b>The capillary electrophoresis was used to screen total 14 141 samples and blood cell analysis was further processed to the HbE carrying samples. Gap-PCR and reverse dot blot hybridization method were used for the detection of Chinese common mutation of α and β thalassemia.</p><p><b>RESULTS</b>There is a statistical difference in hematological phenotype index (HGB, MCV, MCH, HbE, HbA(2)) between samples of HbE heterozygous (53 samples), HbE homozygous (2 samples), HbE composite α thalassemia (α-thal, 7 samples) and HbE composite β thalassemia (β-thal, 8 samples). Among the four groups, HbE heterozygous \[HGB (122.7 ± 19.99) g/L, MCV (78.65 ± 5.03) fl\] and HbE composite α-thal \[HGB (113.6 ± 22.68) g/L, MCV (73.50 ± 7.73) fl\] had slight effect on hematological parameters, but HbE composite β-thal \[HGB (76.4 ± 12.30) g/L\], MCV (59.23 ± 5.28) fl\] had the heaviest effect on hematological parameters.</p><p><b>CONCLUSION</b>Co-existence of HbE heterozygous and other type thalassemias showed variation in their hematological phenotype, so patients should be informed of genetics in prenatal diagnosis.</p>

Feasibility of vertebral internal fixation using deer and sheep as animal models / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Studies on new vertebral internal fixations of animals are very important prior to clinical application. This study aimed to determine the feasibility of vertebral internal fixation on morphologic and biomechanical properties using deer and sheep as animal models and comparing to human data.</p><p><b>METHODS</b>Thirty sets of fresh Sika deer lumbar, 30 sets of fresh sheep lumbar, and 20 sets of fresh lumbar from male cadavers were used. We examined the morphology of the centra and pedicles of the three groups, and determined the cancellous bone density and biomechanical properties in all groups.</p><p><b>RESULTS</b>There were marked differences in all parameters measured between the different species. The sizes of the upper, middle, and lower transverse diameter were largest in the human, followed by the deer, then the sheep. The index of centrum transverse diameters and sagittal diameters were less than 0.8 (a triangle), and the deer was more similar to the human. The heights of the right vertebral pedicles and the anterior disc heights (IDH) were largest in the human, followed by the deer, then the sheep. The apparent density, elastic modulus, and ultimate load were largest in the sheep, followed by the deer, then the human. The range of motion (ROM) of functional lumbar units (FLUs) with a combined flexion-extension moment was largest in the human, followed by the deer then the sheep.</p><p><b>CONCLUSIONS</b>The deer lumbar is more similar to that of human in anatomical form and biomechanics than the sheep lumbar. As such, deer is more appropriate as an animal model for use in vertebral internal fixation studies.</p>