Clinical analysis of severe hyperbilirubinemia caused by hemolytic disease of the newborn and G6PD deficiency / 中国新生儿科杂志

Objective:To study the clinical characteristics and differences of severe hyperbilirubinemia caused by hemolytic disease of the newborn (HDN) and glucose-6-phosphate dehydrogenase (G6PD) deficiency.Methods:From January 2014 to December 2021, newborns (gestational age ≥ 35 weeks and postnatal age ≤ 28 d) admitted to the Department of Neonatology of Hunan Children's Hospital with severe hyperbilirubinemia caused by HDN or G6PD deficiency were retrospectively analyzed. According to the etiology of hyperbilirubinemia, they were assigned into HDN group and G6PD deficiency group. The general conditions, clinical manifestations, laboratory results, treatment and prognosis of the two groups were compared using SPSS 26.0 software.Results:A total of 532 cases were in the HDN group and 413 cases in the G6PD deficiency group. The HDN group reached peak hyperbilirubinemia earlier than the G6PD deficiency group [3(2,5) d vs. 6(4,8)d, P<0.05]. The HDN group had lower peak value of total serum bilirubin [379.5(345.6,426.7) μmol/L vs. 486.4 (413.5,577.4) μmol/L] and lower incidence of anemia [37.4% (199/532) vs. 55.0% (227/413)]than the G6PD deficiency group.The incidence of anemia with elevated reticulocyte percent(Ret%) in the HDN group was higher than the G6PD deficiency group[66.3%(132/199) vs. 5.7%(13/227), P<0.05]. Compared with the G6PD deficiency group, the incidences of exchange transfusion and repeated (≥2 times) exchange transfusion, acute bilirubin encephalopathy(ABE) and the mortality rate after withdrawal of treatment in the HDN group were significantly lower ( P<0.05). Conclusions:Neonatal severe hyperbilirubinemia caused by HDN has early onset. G6PD deficiency caused hyperbilirubinemia has higher incidences of anemia, more severe jaundice and ABE, without increased Ret%.

Genetic analysis of a child affected with Crigler-Najjar syndrome type II / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of the UGT1A1 gene in a child affected with Crigler-Najjar syndrome type II.</p><p><b>METHODS</b>Blood samples were collected from the patient and his parents for the extraction of genomic DNA. Potential mutation of the UGT1A1 gene was detected with polymerase chain reaction (PCR) and direct sequencing. The child was followed up until the age of 3 years and 6 months.</p><p><b>RESULTS</b>The patient showed persistent unconjugated hyperbilirubinemia. Sequencing of the UGT1A1 gene has detected a rare heterozygous c.610 A>G (p.Met204Val) mutation in the exon 1, in addition with a heterozygous c.1091 C>T (p.Pro364Leu) mutation in exon 4. The two mutations were inherited from his father and mother, respectively. The patient was diagnosed with Crigler-Najjar syndrome type II and received oral phenobarbital treatment.</p><p><b>CONCLUSION</b>The compound UGT1A1 gene mutation probably accounts for the disease in the patient manifesting persistent mild unconjugated hyperbilirubinemia. Genetic counseling and prenatal diagnosis should be provided for his family.</p>

Determination of the detachment force of platelet membrane protein GPIb/IX and von Willebrand factor / 生物医学工程学杂志

CHO cells expressing human GPIb/IX and rabbit red blood cells coated with human von Willebrand factor (VWF) were adapted to our study on the binding probability and the detachment force of GPIb/IX and VWF. With the micropipette system, the two cells were impinged under a constant force for controlled time. When the cells were pulled apart, the deformation of RBC was recorded, and the binding score and detachment force of the proteins were determined. After the two cells were impinged into 0.5 microm for 30 s, the binding probability of the two cells carrying GPIb/IX and VWF was 15.0%. Via analyzing the deformation of red blood cells, we found out the distribution of rupture forces of cells with GPIb/IX and VWF. Therefore, we infer that the continuous distribution of the detachment force is due to the stochastic effect. The most probable value of the detachment force was 10 pN.