Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province / 中国实验血液学杂志

OBJECTIVE@#To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.@*METHODS@#10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.@*RESULTS@#The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.@*CONCLUSION@#There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.

Numerical analysis on rat model of OSAHS and its upper airflow characteristics simulation / 医用生物力学

Objective To study the modeling method of rat model and the air flow characteristicwith its upper stenosis-airway. Methods Thirty-two 3-month old rats were randomly divided into two groups: the control group and the model group. For the model group, sodium hyaluronte of 0.1 mL was injected into mucosa of the soft palate and uvula in each rat under the anesthetic state. After feeding under the same condition for 3 months, CT scans and respiratory experimental examinations were performed on the two groups, respectively. The computational fluid dynamic (CFD) method was then employed to simulate the airflow in their upper airway. The flow characteristics were compared between the control rat and the model rat. Results (1) The minimum cross-sectional area of pharyngeal in the model group was reduced remarkably than that of the control group, showing that the airway of the model rats was significantly narrower than that of the control rats (P<0.05). (2) The model rats became breathless, and their respiratory period became unsteady. The breath intensity of the model rat on the pharynx fluctuated more rapidly. (3) The maximum wall shear stress on the pharynx of the control rat was scattered at the respiratory phase while it was concentrated for the model rat. Conclusions The injection of sodium hyaluronte into mucosa of the soft palate and the uvula can induced the narrowness of the upper airway in the model rat, which is similar to patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) in pathology. The narrowness of the upper airway can cause dyspnea and extend respiratory period. The shear stress on the pharynx of the upper stenosis-airway induces stronger damage to the pharynx tissue, especially to the soft palate and uvula, which aggravates reconstruction of the pharynx tissue.