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The article presents the three case studies related to 20-month-old baby girl who has referred to the hospital due to congenital hemolytic anemia, 10-month-old baby boy who being born by cesarean section as a term baby and second pregnancy, with the birth weight, and 6-month-old baby boy who being born by cesarean section as a term baby and first pregnancy. Topics include the most common cause of inherited nonspherocytic hemolytic anemia.

Introduction: Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired clonal disease of hematopoietic stem cells. It is caused by somatic mutation of the X‐linked PIGA gene, resulting in a deficient expression of glycosylphosphatidylinositol‐anchored proteins (GPI‐APs). In this study, we aimed to explore the diagnostic value of next‐generation sequencing (NGS) and potential molecular basis in PNH patients. Methods: Genomic DNA of 85 PNH patients was analyzed by a 114‐gene NGS panel. Results: Mutational analysis of PIGA identified 124 mutations in 92% PNH patients, including 101 distinct mutations and 23 recurrent mutations. Among them, 102 mutations were newly reported. Most mutations were located in exon 2 of PIGA gene, and truncated mutation was the most common one. Other mutations were detected in 26 out of 85 cases, including five cases of DNMT3A variants, four cases of ASXL1 variants, and four cases of U2AF1 variants. Clonal analysis was performed in one case and outlined a linear evolution pattern in classic PNH. There was a positive correlation between number of PIGA mutations and fraction of GPI‐APs deficient granulocytes. Conclusion: The detection of PIGA mutations and additional variants by targeted NGS not only shed light on the genetic characteristics of PNH, but also provided an important reference value in the diagnosis of PNH at molecular level. [ABSTRACT FROM AUTHOR]

The article presents two case studies of 23‐year‐old man has developed deep vein thrombosis (DVT) in his right leg six years ago, and oral warfarin has been used since then, and 32‐year‐old woman has developed dizziness, nausea, and vomiting when she was pregnant. It mentions that the disease‐causing mutations has identified from the Human Gene Mutation Database (HGMD) six or from the mutations previously has reported in the literature.

BACKGROUND: The aim of this study was to use a systematic survey to analyze RHD alleles in Chinese D− donors who do not express D antigen or who lack functional RhD protein. STUDY DESIGN AND METHODS: A total of 733 D− Chinese donors, not including Del phenotypes, were investigated by RHD polymorphism–specific polymerase chain reaction (PCR), Rhesus box PCR- PstI digestion, and RHD sequencing. The frequencies of identified alleles were calculated. RESULTS: Three genetic mechanisms and eight alleles were found associated with the Chinese D− phenotype. One new RHD/CE hybrid allele and one novel mutation were also found. The rates of total deletion and the most frequent hybrid allele RHD(1)-CE(2-9)-D(10) were similar to those found in previous studies. A previously reported mutation RHD(711delC) was found to be the predominant cause of aberrant RHD alleles. CONCLUSION: Informative population-based data for improving molecular diagnostic strategies for Chinese D− persons are suggested by this study. This type of systematic knowledge is important for the development of typing and transfusion strategies for the Chinese population. [ABSTRACT FROM AUTHOR]