First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation ( c.244delT) in a Chinese Family.

Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants.

β-Thalassemia Intermedia Caused by the β-Globin Gene 3' Untranslated Region: Another Case Report.

The 3' untranslated region (3'UTR) is associated with mRNA stability because of its involvement in 3' end processing, polyadenylation, and mRNA capping. Mutations located in this area can cause a phenotype compatible with β-thalassemia (β-thal). We report a Chinese subject with β-thal intermedia (β-TI) who developed transfusion-dependent anemia.

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing.

Gap- polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing are conventional methods to diagnose thalassemia but all of them have limitations. In this study, we applied single-molecule real-time (SMRT) sequencing following multiplex long-range PCR to uncover rare mutations in nine patients and their family members. The patients with different results between Gap-PCR and MMCA assay or with phenotype not matching genotype were included.

Hb Lepore-Hong Kong: First Report of a Novel δ/β-Globin Gene Fusion in a Chinese Family.

We describe a new δ/β fusion gene causing β-thalassemia (β-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a δβ configuration within a 54 bp region between the Cap site (+22) and codon 8, causing a deletion (NG_000007.

Hb Westmead (: c.369C>G): Hematological Characteristics in Heterozygotes with and without α-Thalassemia.

Hb Westmead (α122(H5)His>Gln) (: c.369C>G) is a common α-globin variant causing α-thalassemia (α-thal) in Mainland China. In this study, we report the hematological characteristics in Hb Westmead carriers in a Chinese population.

Hematological Characteristics of Hb Constant Spring (: c.427T>C) Carriers in Mainland China.

Hb Constant Spring (Hb CS) (: c.427T>C) is a common α-globin variant causing α-thalassemia (α-thal) phenotypes in mainland China. In this study, we evaluated the efficiency of erythrocyte parameters and capillary electrophoresis (CE) in the determination of Hb CS in blood samples from Hb CS carriers.

A β-Thalassemia Trait with Two Mutations in in a Chinese Family.

A female of Chinese origin carried the codon 43 (G>T) (: c.130G > T) and codons 71/72 (+A) (: c.216_217insA) mutations of the β-globin gene in , identified during prenatal thalassemia screening.

[Pooled Umbilical Cord Blood Plasma for Culturing UCMSC and Ex Vivo Expanding Umbilical Cord Blood CD34⁺ Cells].

Objective: To investigate the feasibility of umbilical cord blood plasma (UCP) as a replacement for fetal bovine serum (FBS) for culturing mesenchymal stem cells (MSC) derived from umbilical cord, and to observe the supporting effects of these cells (served as a feeder layer) on ex vivo expanding of human umbilical cord blood CD34(+) cells.

Methods: Umbilical cord blood (UCB) units were suitable if the Guangzhou cord blood bank donor selection criteria strictly were fulfilled. UCP were ready to use after the collection from the plasma depletion/reduction during the processing and pooling of suitable UCB units (at least 30 units were screened for pathogens and microorganisms, and qualified).

[Analysis of post-thaw infused cell dose for predicting engraftment after unrelated cord blood transplantation].

This study was purposed to investigate the role of post-thaw infused donor cells for predicting engraftment and hematopoietic reconstitution after unrelated cord blood transplantation (UCBT). The retrospective analysis was performed on clinical data of 97 children with malignant or non-malignant diseases received single unit UCBT from August 1999 to April 2010. The impact of pre-freezing and post-thaw cell dose of total nucleated cells (TNC), CD34(+) cells and colony-forming units-granulocyte/macrophage (CFU-GM) on engraftment and hematological recovery after UCBT was analyzed.

[Study of the HLA-A, B, DRB1 allele and haplotype frequencies of 4194 cord blood samples in Guangzhou].

Objective: To analyze the distribution of the human leukocyte antigen (HLA)-A, B and DRB1 allele and haplotype in cord blood samples preserved in Guangzhou Cord Blood Bank collected in the last 10 years.

Methods: The HLA-A, B and DRB1 genotyping of 4194 cord blood samples were detected by Special Monoclonal Tray, PCR-sequence specific promer (PCR-SSP), PCR-sequence specific oligonucleotide probe (PCR-SSO) and sequence based typing (SBT). Frequencies of HLA-A, B and DRB1 allele and haplotype were calculated by Arlequin software.

[Clinical application of HLA sequencing in unrelated umbilical cord blood transplantation].

From June 1998 to July 2004, Guangzhou umbilical cord blood bank provided unrelated umbilical cord blood for 54 patients to more than 21 transplantation centers. HLA sequencing-based typing (SBT) was used to re-analyze the results of HLA antigens and alleles so as to investigate the relationship between HLA alleles and GVHD. The information about 48 out of 54 patients was obtained after 6 months of follow up.

[Modified guanidine hydrochloride method for DNA extraction from cord blood used in HLA genotyping].

To compare two different methods for extracting genomic DNA from cord blood and to evaluate their applications for HLA genotyping, the genomic DNA from 72 samples was extracted by guanidine hydrochloride (Gu * HCl) and modified guanidine hydrochloride, the DNA yield and purity were evaluated by spectrophotometry and detected by PCR with sequence-specific primers. The result showed that the genomic DNA was successfully isolated from whole blood by both methods. The modified Gu * HCl method used was better than Gu * HCl method as the modified method produces better quality of DNA and less ambiguous bands in PCR.

[Results of unrelated umbilical cord blood stem cell transplantation for 65 patients in China].

Objective: From December 1998 to April 2004, 3960 umbilical cord blood units were stored in Guangzhou cord blood bank, which provided 100 umbilical cord blood units to 25 transplant center for 83 patients with malignant or non-malignant diseases. To study the related factors affecting unrelated umbilical cord blood stem cell transplantation, the authors analyzed retrospectively the results of transplantation of unrelated umbilical cord blood stem cells for 65 patients.

Methods: ALL (acute lymphocytic leukemia) cord blood units were obtained from full term normal vaginal and cesarean deliveries in Guangzhou Women and Infants Hospital.

[Correlative analysis between HLA high resolution typing and GVHD in 48 cases received unrelated umbilical cord blood transplantation].

Unrelated umbilical cord blood units for 54 cases in 21 transplant centers were provided by Guangzhou Cord Blood Bank in China from 1998 to 2003. This study was aimed to identify HLA-DRB1 alleles by means of PCR sequencing based typing methods (SBT) and to analyze the correlation between HLA-DRB1 alleles and GVHD in unrelated umbilical cord blood transplantation (UCBT). 48 out of 54 patients received UCBT were followed up.

[HLA-B gene polymorphism detected by high-resolution sequence-based typing in Guangdong Han populations].

Objective: To investigate the genetic polymorphism of HLA-B locus in Guangdong Han population and compare the characteristic of the allele frequency distribution with that in other populations.

Methods: A total of 562 cord blood samples from Guangzhou Cord Blood Bank were analyzed by sequence-based typing. Then the sequences encompassing exons 2, 3, and 4 for HLA-B gene were analyzed by direct sequencing of PCR products.

[Retrospective analysis of 54 cases of unrelated umbilical cord blood transplantation].

In order to research the related factors of umbilical cord blood transplantation, 54 cases of unrelated umbilical cord blood transplantation were analyzed retrospectively, which were performed from June 1998 to July 2003. All cord blood units were obtained from full term normal vaginal deliveries in Guangzhou Maternal-Neonatal Hospital. The fractionation, cryopreservation and thawing of cord blood have been done according to the regulation of New York umbilical cord blood bank and pertinent literature.

[A retrospective analysis on multiple cord blood transplantation in 13 cases].

In order to study the feasibility of multi-umbilical cord blood transplantation (multi-UCBT) in adult, 13 cases of unrelated allogeneic multi-UCBT performed from June 1998 to July 2003 were analyzed retrospectively. All cord blood units were obtained from full term normal vaginal and cesarean deliveries in Guangzhou Maternity and Neonatal Hospital. The fractionation, cryopreservation and thawing of cord blood were done according to the regulation of New York Umbilical Cord Blood Bank and pertinent literatures.

[Analysis of HLA matching probability in Guangzhou Cord Blood Bank].

The HLA matching results for 1 060 patients searching donors within 3 000 units of umbilical cord blood in Guangzhou Cord Blood Bank from 1998 to 2002 were analyzed. There were 119 (11.23%) and 992 (93.

[Establishment of a method for HLA-DRB genotyping in cord blood by reverse dot-blot hybridization technique].

The HLA system was discovered by virtue of the fact that it was polymorphic. The impetus for its discovery was the search for polymorphic antigens to match for transplantation, by analogy with the human red cell blood groups. The most usually DNA method of HLA typing is sequence specific oligonucleotides (SSO) and PCR sequence specific primers (SSP).