α-Thalassemia Caused by a Novel α-Globin Gene Cluster Deletion (-) Found in a Chinese Family.

We report a novel large α-globin gene cluster deletion in a Chinese family from the Guangxi Zhuang Autonomous Regionfor the first time. The proband was a 20-year-old male who presented with microcytic hypochromatosis. Routine genetic analysis showed none of the common mutations in theα-globin and β-globin genes.

Hb A-Guangxi [δ79 (EF3) Asp→Asn, : C.238G > A] and polyA + 70 (: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.

We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A, accompanied by a minor unknown peak (0.

A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,: C.139G > A].

We report a new δ-chain hemoglobin (Hb) variant observed in a 5-year-old female living in Yulin, Guangxi, China. Capillary electrophoresis revealed splitting of the Hb A peak into two fractions (Hb A and Hb A variant), and the Hb A variant was also detected by high-performance liquid chromatography. However, it could not be detected using matrix-assisted laser desorption lonization-time of flight mass spectrometry.

Hb Hebei [α20 (B1) His→Leu; :C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin.

We report a novel hemoglobin (Hb) variant found in a 34-year-old Chinese male during a routine measurement of glycated hemoglobin. The variant resulted in a P3 peak of 27.5% of the total Hb on high performance liquid chromatography (HPLC) with a glycated hemoglobin mode.

Misdiagnosis of β-Thalassemia Major Due to Chinese γ+(γδβ)-Thalassemia Combined with β-Thalassemia.

δβ-thalassemia is a rare type of thalassemia characterized by increased Hb F levels, including mainly Chinese γ(γδβ)-thalassemia, Yunnanese γ(γδβ)-thalassemia, Cantonese γ(γδβ)-thalassemia in China. Due to the low rate of δβ-thalassemia carriers, there are few reports of δβ-thalassemia combined with β-thalassemia causing β-thalassemia major. Herein, we described the combination of Chinese γ(γδβ)-thalassemia and β-thalassemia leading to β-thalassemia major in a Chinese patient.

[Hemoglobin C Variant Affecting Glycated Hemoglobin Test Results: A Rare Case Report].

Hemoglobin (Hb) variants are common factors that affect the results of glycosylated hemoglobin (A1C) tests. Hemoglobin variants react differently to different testing methods. Herein, we presented the first ever report of the effect of hemoglobin C (Hb C) on the test results of A1C in the Chinese population.

[Genotype and Phenotype of α-Thalassemia Fusion Gene in Huadu District of Guangzhou, Guangdong Province of China].

Objective: To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia.

Methods: A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed.

Hb Huadu [α124(H7)Ser→Thr (CC>CC), : c.373T>A]: A Novel Variant of the α-Globin Gene.

Here, we report a novel α chain hemoglobin (Hb) variant found during routine thalassemia screening. This Hb variant can be detected by capillary electrophoresis (CE) but cannot be recognized by high performance liquid chromatography (HPLC). Sanger sequencing revealed a heterozygous missense substitution at nucleotide 373 on the gene, which results in the replacement of serine by threonine at codon 124 [α124(H7)Ser→Thr (CC>CC), : c.

Hb Laibin [β96(FG3)Leu→Arg; : c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family.

We report a novel β chain hemoglobin (Hb) variant found in a Chinese family. A high level of Hb F was observed on capillary electrophoresis (CE). However, high performance liquid chromatography (HPLC) showed a high level of Hb A.

Detection of Hb Yulin [β13(A10)Ala→Val, : c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

We report a rare hemoglobin (Hb) variant on the β-globin gene, which was detected in a female from Yulin City, Guangxi Autonomous Region, People's Republic of China (PRC), during routine thalassemia screening. The Hb variant remained unnoticed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC), while an additional peak was observed by matrix-assisted laser desorption ionization-time-of-flight (MALDI-TOF) mass spectrometry (MS). DNA sequencing revealed the GC>GC substitution at codon 13 on the β-globin gene, causing a substitution of alanine to valine.

Hb Dahua [β59(E3)Lys→Met; : c.179A>T] a Novel Variant on the β-Globin Gene.

We report a novel hemoglobin (Hb) variant found in a Chinese individual from the Guangxi Zhuang Autonomous Region of the People's Republic of China. The proband was a 6-month-old boy who came from Dahua county, Hechi City. Capillary zone electrophoresis (CZE) showed an abnormal peak (51.

Hb Hezhou [β64(E8)Gly→Ser; : c.193G>A]: A Novel Variant on the β-Globin Gene.

We report a novel mutation on the β-globin gene, Hb Hezhou [β64(E8)Gly→Ser; : c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α-thalassemia (α-thal) -α (leftward) deletion, but hematological analyses showed no clinical consequences.

Morphologic analysis of Chinese lumbar endplate by three-dimensional computed tomography reconstructions for helping design lumbar disc prosthesis.

Lumbar disc prostheses have been used increasingly in recent years. The successful design of lumbar disc prostheses depends on accurate morphometric parameters. However, the morphologic dimensions of lumbar endplate area have not been investigated in Chinese population.

A Chinese Male with Normal Hematological Indices and High Hb A Levels in β-Thalassemia Trait.

β-Thalassemia (β-thal) is a common hematological disorder in the Guangxi Zhuang Autonomous Region of Southern China. Heterozygous β-thal is usually associated with reduced hematological indices and increased Hb A levels. However, the preventive program of the regional government only conducts the screening of hematological indices [complete blood count (CBC)] especially at primary hospitals.

First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.139G>C] by Capillary Electrophoresis.

We report a novel mutation on the β-globin gene in a female of the Chinese population. This mutation produces a β-globin variant that can be detected by the capillary electrophoresis (CE) method, but coelutes with Hb A by high performance liquid chromatography (HPLC). DNA sequencing showed a mutation of codon 46 and it was named Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.

Detection of Hb A and Hb Constant Spring (HBA2: c.427T>C) by Capillary Electrophoresis in a Patient with Hb H-Hb CS Disease.

Hb A (α2δ2) is one of the key components looked for in hemoglobinopathies screening programs. Therefore, quantitative and accurate method for Hb A value determination is essential for routine screening. Here, we report a case of Hb A and Hb Constant Spring (Hb CS, HBA2: c.

Internal Carotid Artery and its Relationship with Structures in Sellar Region: Anatomic Study and Clinical Applications.

Background: Complications of the internal carotid artery (ICA) in surgery are rare but severe. This study aimed to locate the ICA with 5 stationary bony structures in the sellar region: the anterior clinoid process, the tuberculum sellae, the bottom of the hypophyseal fossa, the posterior edge of the hypophyseal fossa, and the postclinoid process and to do measurements to determine their anatomic relationship with the ICA.

Methods: After multiple planar reconstructions on computer tomographic angiography images of 120 ICA in 60 individuals, we defined the 5 bony structures as 5 origins in the horizontal, sagittal, and vertical planes with the 3D coordinate system and got the cross-sections of bilateral ICA on the coronal plane passing through each origin.

An anatomic study of trifurcate iliotibial bands for correcting valgus knee deformity.

Background: The iliotibial band (ITB) trifurcates into the anterior, central and posterior branches at the knee level, and sometimes the branches must be selectively released to correct the valgus knee deformity during total knee arthroplasty. However, the anatomical morphology of the trifurcate ITBs has not been investigated.

Methods: Fifty-two knees from 26 embalmed cadavers were dissected to observe and record the relationship of the three branches given off from the ITB trifurcation.

Computed Tomography Research: Relative Anatomy of Caldwell-Luc Approach in Pterygopalatine Fossa Surgery.

With the development of endoscopic technique, Caldwell-Luc approach has more wide applications and becomes a common method of pterygopalatine fossa (PPF) surgery. Few data can be used in this approach to avoid injuring the vessels and nerves within this area. In this study, the authors used computed tomography to get the coordinates of inferior orbital fissure, foramen rotundum, sphenopalatine foramen, internal opening of pterygoid canal, the strangulation of PPF, and the greater palatine foramen with canine fossa as the origin.

Detection of the Unstable Hb Köln (HBB: c.295G>A) by a Capillary Electrophoresis Method.

Hb Köln (HBB: c.295G>A) is an unstable β-globin gene variant with a GTG>ATG substitution at codon 98. This variant is quite frequent in Europe and the USA but rare in China.

Basic Research and Clinical Application of Pterygoplatione Fossa Projection on Lateral Nasal Wall.

Infection, neoplasms, and tumor-like lesion in pterygoplatione fossa (PPF) are common in Chinese people. Owing to its deep anatomic location, surgery through this region is difficult. Maxillary sinus pathway is widely used, but the obvious disadvantage of destroying maxillary sinus even disfigurement cannot be avoided.

Morphologic evaluation of Chinese cervical endplate and uncinate process by three-dimensional computed tomography reconstructions for helping design cervical disc prosthesis.

Background: Cervical disc prostheses have been used increasingly in recent years. The successful design of cervical disc prostheses depends on accurate morphometric parameters. However, the morphologic dimensions of the cervical endplate area have not been investigated in the Chinese population.

Hb Matera (HBB: c.167 T > A): A Second Case Detected in a Pregnant Chinese Woman by the Capillary Electrophoresis Method.

Hb Matera (HBB: c.167 T > A) is an unstable β-globin gene variant with an ATG > AAG substitution at codon 55. Its coelution with Hb A2 on high performance liquid chromatography (HPLC) makes it difficult to discriminate between Hb Matera and Hb E (HBB: c.

Comparison of capillary electrophoresis and high performance liquid chromatography for detection and quantification of hemoglobin New York.

Background: Hemoglobin (Hb) New York [β113 (G15) Val→Glu, GTG→GAG], also known as Hb Kaohsiung, is one of the most common Hb variants in South China. Currently, most used screening methods for hemoglobinopathies in South China are high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). However, there is no study comparing the performance of CE and HPLC in the detection of Hb New York.

Relative location of foramen ovale, foramen lacerum, and foramen spinosum in Hartel pathway.

Trigeminal neuralgia is a common disease in Chinese people. Minimal invasive transforaminal pathway is widely used in treating trigeminal neuralgia. The Hartel pathway is the most commonly used operation route, but it has potential to injure vessels such as arteria meningea media and the internal carotid artery.