Molecular genetic characteristics of a family which coinheritance of rare-88 C>G (HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature / 中华预防医学杂志

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (β-88 C>G/βN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.

Effect of Sling Exercise Therapy on Chronic Nonspecific Low Back Pain / 中国康复理论与实践

Objective:To observe the effect of sling exercise therapy on chronic nonspecific low back pain. Methods:From February, 2017 to February, 2018, 84 patients with chronic nonspecific low back pain were randomly divided into control group and observation group, with 42 cases in each group. The observation group was treated with the combination of the sling exercise therapy and acupuncture, and the control group only received acupuncture. They were assessed with Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) before treatment, one month after treatment and at three-month follow-up. Results:Before treatment, there was no statistically significant difference in the scores of VAS and ODI between two groups (t < 1.638, P > 0.05). One month after treatment and at three-month follow-up, the scores of VAS and ODI decreased in both groups (P < 0.01). Compared with one month after treatment, the scores of VAS and ODI increased in the control group at three-month follow-up (t > 2.219, P < 0.05), however, no difference was found in the observation group (t < 1.738, P > 0.05). One month after treatment, the scores of VAS and ODI were lower in the observation group than in the control group (t > 3.535, P < 0.001). Conclusion:Sling exercise therapy combined with acupuncture is superior to simple acupuncture in treating chronic nonspecific low back pain, and the curative effect is persistent.