[Preparation and evaluation of schisandrin B-loaded F127 modified lipid-polymer nanoparticles for inhibition of breast cancer lung metastasis].

In the current study, schisandrin B(SchB)-loaded F127 modified lipid-polymer hybrid nanoparticles(SchB-F-LPNs) were developed to improve the inhibition of breast cancer lung metastasis. Modified nanoprecipitation method was used to prepare SchB-F-LPNs. The nanoparticles were spherical in shape with shell-core structure by TEM observation.

A Gene Mutation Ameliorates the Severity of -Thalassemia: A Case Report.

Patients with the β/β type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We report a Chinese family with twin brothers, both of whom had the same genotype of β/β.

Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family.

The combination of β-thalassemia (β-thal) and a hemoglobin (Hb) variant is not uncommon in regions with a high prevalence of thalassemia. Although most of the β-globin chain variants will not aggravate the β-thal, some can compromise the accurate molecular diagnosis. In this study, we present a rare case of coinheritance of β-thal and Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.

Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.

In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - - and - - deletions were 3.

A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia.

We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139.

Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -/) Deletion.

Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this report, we present a fetus with cardiomegaly, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 25 weeks' gestation.

A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)].

An elevated Hb A2 (α2δ2 level) is a diagnostic marker for heterozygous β-thalassemia (β-thal). Mutations in the δ-globin gene can cause decreased expression of Hb A2, compromising screening for heterozygous β-thal. In this report, we describe a novel missense mutation of the δ-globin [Hb A2-Fengshun or δ121(GH4)Glu→Lys, HBD: c.

Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China.

Unstable hemoglobin (Hb) variants represent a rare etiology of congenital hemolytic anemia. Correct diagnosis can be a challenge due to the relative rarity or lack of awareness of this disorder. We report an 18-month-old girl, who presented with a long-standing hemolytic anemia.

Consequences of Delayed Prenatal Diagnosis of β-Thalassemia in Mainland China.

β-Thalassemia (β-thal) is one of the most common inherited single gene disorders in the world. The aim of this study was to describe the gestational age at prenatal diagnosis (PND) for β-thal in at-risk women in mainland China. All pregnant women at-risk for β-thal and undergoing PND at a Mainland Chinese tertiary obstetric center between January 2005 and December 2014 were included.

Evidence of Selection for the α-Globin Gene Deletions and Triplications in a Southern Chinese Population.

α(+)-Thalassemia (α(+)-thal) is common in Southern China. The high frequency could be due to over dominant selection through malaria. Two molecular mechanisms that produce α(+)-thal have been defined; one results in the -α(3.

Implementation of newborn screening for hemoglobin h disease in mainland china.

Hemoglobin H disease is the most severe non-fatal form of α-thalassemia syndrome characterized by pronounced microcytic hypochromic hemolytic anemia. It is predominantly seen in Southeast Asia, the Middle East and the Mediterranean. Studies suggest that hemoglobin H disease is not as benign a disorder as previously thought.

Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China.

Objective: To determine the prevalence of α-thalassaemia in β-thalassaemia individuals in a Chinese population.

Methods: The standard diagnostic marker for β-thalassaemia was elevation of the Hb A2 level (>3.5%) with low mean corpuscular volume.

Case report: prenatal diagnosis of Hb Hammersmith [β42(CD1)Phe→Ser; HBB: c.128T > C] in a family with an adult male patient.

Hb Hammersmith [β42(CD1)Phe → Ser; HBB: c.128T > C] is a rare, unstable hemoglobin (Hb) variant. In this case report, we describe another male case of Hb Hammersmith.

A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].

We have identified a new β chain hemoglobin (Hb) variant in a Chinese individual. Sequencing of the β-globin gene revealed a mutation in exon 2 at nucleotide 271, which results in the replacement of a glutamic acid by glutamine at codon 90 [β90(F6)Glu → Gln; GAG > CAG; HBB: c.271G > C] that we have named Hb Henan.

Newborn screening for Hb H disease by determination of Hb Bart's using the Sebia capillary electrophoresis system in southern China.

Hb H (β4) disease is an inherited hemoglobin (Hb) defect in which three of the four α-globin genes are deleted or dysfunctional. The clinical manifestations vary widely from mild asymptomatic anemia to a severely anemic state. Recent literature suggests that Hb H disease is not as benign a disorder as previously thought.

KLF1 gene mutations in Chinese adults with increased fetal hemoglobin.

We investigated the Krüppel-like factor 1 (KLF1) gene mutations in Chinese adults with increased Hb F levels (>1.5%) referred to our laboratory for thalassemia screening. Functionally effective KLF1 mutations were identified in five out of 140 samples with an elevated Hb F (1.

Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

Objective: To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital.

Methods: A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations.

Analysis of δ-globin gene mutations in the Chinese population.

Although δ-globin gene (HBD MIM#142000) mutations have no immediate physical consequence, it can interfere with the diagnosis of β-thalassemia (β-thal), which can be severe. In the present study, of 40,863 samples referred for thalassemia trait screening, 167 samples with lower than expected Hb A(2) levels, in the presence or absence of a second Hb A(2) fraction, were selected for our analysis and 152 samples (0.4%) were positive for δ-globin gene mutations.

Association of Hb New York with Hb E and α(0)-thalassemia in a Chinese woman identified by Sebia CapillaryS2 system.

We describe a Chinese woman who was assumed to be heterozygous for both Hb E [β26(B8)Glu→Lys] and α(0)-thalassemia (α(0)-thal) by a high performance liquid chromatography (HPLC) method, but was later also shown to be a Hb New York [β113(G15)Val→Glu] heterozygote by the Sebia CapillaryS2 system. This study suggested that a single test is never sufficient to allow the correct diagnosis of an abnormal hemoglobin (Hb). We also emphasize the importance of a correct diagnosis of interactions between α- and β-thalassemias.

A novel α-thalassemia frameshift mutation: codon 8 (-C).

We report a novel α-thalassemia (α-thal) point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a frameshift mutation at codon 8 (-C) in exon 1 of the α2-globin gene. This mutation causes an α(+)-thal phenotype.

Screening for common nondeletional α-thalassemias in Chinese newborns by determination of Hb Bart's using the Sebia Capillarys 2 electrophoresis system.

The interaction of the nondeletional α-thalassemia (α-thal) mutations with the Southeast Asian double α-globin gene deletion results in nondeletional Hb H (β4) disease. Hb Constant Spring (Hb CS, α142, TAA>CAA at α2) and Hb Quong Sze [Hb QS, α125, CTG>CCG (α2)] are the most common nondeletional α-thalassemias in the Chinese population. These α-globin structural variants are unstable and undetectable by routine hemoglobin (Hb) electrophoresis.