The diagnosis and molecular analysis of a novel 27.2 kb deletion causing α0-thalassemia.

BACKGROUND: Thalassemia, one of the most prevalent monogenic diseases worldwide, is caused by an imbalance of α-like and non-α-like globin chain production. Copy number variations, which cause the most common genotype of α-thalassemia, can be detected by multiple diagnostic methods. CASE REPORT: The proband was a 31-year-old female who was diagnosed with microcytic hypochromic anemia by antenatal screening. Hematological analysis and molecular genotyping were conducted on the proband and the proband's family members. Gap-polymerase chain reaction, Sanger sequencing, multiplex ligation-dependent probe amplification, and next-generation sequencing were used to detect potentially pathogenic genes. Familial studies and genetic analyses revealed a novel deletion of 27.2 kb located in the α-globin gene cluster (NC_000016.9: g. 204538_231777delinsTAACA). CONCLUSIONS: We reported a novel α-thalassemia deletion and described the process of molecular diagnosis. The novel deletion extends the thalassemia mutation spectrum, which may be helpful in genetic counseling and clinical diagnosis in the future.

Field test of the superconducting gravimeter as a hydrologic sensor.

We report on a field test of a transportable version of a superconducting gravimeter (SG) intended for groundwater storage monitoring. The test was conducted over a 6-month period at a site adjacent to a well in the recharge zone of the karstic Edwards Aquifer, a major groundwater resource in central Texas. The purpose of the study was to assess requirements for unattended operation of the SG in a field setting and to obtain a gravimetric estimate of aquifer specific yield. The experiment confirmed successful operation of the SG, but water level changes were small (<0.3 m) leading to uncertainty in the estimate of specific yield. Barometric pressure changes were the dominant cause of both water level variations and non-tidal gravity changes. The specific yield estimate (0.26) is larger than most published values and dependent mainly on low frequency variations in residual gravity and water level time series.

[Rapid differential diagnosis of thalassemia trait and iron-deficiency anemia with stepwise regression analysis].

OBJECTIVE: To establish a method for rapid differential diagnosis of thalassemia trait (TT) and iron-deficiency anemia (IDA) using stepwise regression analysis. METHODS: Stepwise regression equation was established for differential diagnosis of TT and IDA according to the red cell index, and the accuracy of the differential diagnosis was evaluated using blind analysis. RESULTS: The accuracy of this equation for differential diagnosis of TT and IDA was 86.82%. The sensitivity, specificity and Youden's index in prediction of TT and IDA were 94.29%, 79.66%, 73.9 and 76.92%, 90.52%, and 67.4%, respectively. CONCLUSION: The stepwise regression equation using the red cell index is concise, rapid, and sensitive in differential diagnosis of TT and IDA, and can be well applicable in clinical practice.