Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review.

Thalassemia is one of the most common single-gene disorder worldwide. An important genetic cause of thalassemia is copy number variations (CNVs) in the α-globin gene cluster. However, there is no unified summary and discussion on the detailed information and mechanisms of these CNVs.

The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees.

Introduction: The reported variants of hemophilia A are mainly from European subjects and American subjects of European descent, and limited data are available from more diverse ethnic backgrounds. This study was performed to identify the causative variants in a large HA cohort from Chinese population.

Materials And Methods: A total of 236 HA pedigrees were included.

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Background: Hemophilia B (HB) is an X-linked recessive inherited bleeding disorder caused by mutations in the F9 gene that lead to plasma factor IX deficiency. To identify the causative mutations in HB, a molecular analysis of HB pedigrees in China was performed.

Methods: Using next-generation sequencing (NGS) and an in-house bioinformatics pipeline, 76 unrelated HB pedigrees were analyzed.

Different Clinical Phenotypes Caused by Three Missense Mutations in Three Chinese Families with Moderate Hemophilia A.

In families with a monogenic disorder, the causal mutation usually cosegregates with the disease phenotype. In rare cases, however, individuals carrying the same mutation within a family may show various phenotypes. This study aimed to analyze the discrepancy between genotype and phenotype in three families with moderate hemophilia A (HA) caused by missense mutation in the gene.

Genetic and evolutionary analysis of enterovirus 71 base dinucleotide.

In this paper, a comprehensive analysis of genome sequences of 99 EV71 virus isolates base dinucleotide odds ratio was conducted to explore the potential mechanisms of its evolution. The general correlation of dinucleotides at different sites of the codons reveals that mutational pressure is the main factor determining EV 71 evolution. Furthermore, the apparent geographic segmentation of isolates before 2008 and low-frequency appearance of TpA and CpG also suggest that the geographic and host factors play important roles in the evolution of the virus.

Correction to: Genetic and evolutionary analysis of enterovirus 71 base dinucleotide.

[This corrects the article DOI: 10.1007/s13337-019-00564-z.].

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - - Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p.

[The value of MCV, MCH and HbA(2) in laboratory screening of thalassemia].

Objectives: To explore the roles of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A(2) (HbA(2)) in the laboratory screening of thalassemia, and to find optimal screening modality for different conditions.

Methods: From September 2008 to May 2011, 1384 subjects underwent thalassemia screening at Department of Obstetrics and Gynecology of Nanfang Hospital. Of them, 1036 cases were diagnosed with thalassemia (408 α-thalassemia, 608 β-thalassemia, and 20 αβ compound thalassemia, thalassemia group) and 348 without thalassemia, non-thalassemia group.