A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,HBD: 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 A2 peak into two fractions (Hb A2 and Hb A2 variant), and the Hb A2 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. CD41-42 (-TCTT) heterozygosity was observed on the HBB gene by PCR and reverse dot-blot hybridization. Sanger sequencing showed a new transition (G > A) at codon 46 of the HBD gene, resulting in glycine changing to arginine. Based on the patient's place of residence, the new variant was named Hb A2-Yulin [δ46(CD5)Gly→Arg,HBD:c.139G > A].

Hb Hebei [α20 (B1) His→Leu; HBA2: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. However, no abnormal Hb peaks were observed in capillary electrophoresis (CE) with 3.1% Hb A2 and 96.9% Hb A. The amino acid substitution was determined by Sanger sequencing as α20 (B1) His→Leu; the corresponding DNA mutation was identified as CAC > CTC at the first position of codon 20 of the α-chain. This is the first description of the mutation, and we have named it Hb Hebei for the region of origin of the proband.

Misdiagnosis of ß-Thalassemia Major Due to Chinese Gγ+(Aγδß)0-Thalassemia Combined with ß0-Thalassemia.

δß-thalassemia is a rare type of thalassemia characterized by increased Hb F levels, including mainly Chinese Gγ(Aγδß)0-thalassemia, Yunnanese Gγ(Aγδß)0-thalassemia, Cantonese Gγ(Aγδß)0-thalassemia in China. Due to the low rate of δß-thalassemia carriers, there are few reports of δß-thalassemia combined with ß-thalassemia causing ß-thalassemia major. Herein, we described the combination of Chinese Gγ(Aγδß)0-thalassemia and ß-thalassemia leading to ß-thalassemia major in a Chinese patient. Hemoglobin analysis was performed by capillary electrophoresis (CE). Routine genetic analysis was carried out by gap-polymerase chain reaction (Gap-PCR) and PCR and reverse dot blot (PCR-RDB). Multiple ligation-dependent probe amplification (MLPA) was used to detect the large deletion, and Gap-PCR confirmed the deletion. A CE result showed an elevated Hb F level of 98.7% and 11.7% in the proband and her mother, but the proband was diagnosed with ßCD17M/ßCD17M using routine genetic analysis. However, her father was heterozygous for CD17 in ß-globin, and her mother was detected as SEA heterozygous. The further analysis presented that the proband had actually missed the diagnosis of Chinese Gγ(Aγδß)0-thalassemia by MLPA and PCR-RDB. Finally, the genotype of the proband was corrected from ßCD17M/ßCD17M to ßCD17M/ßGγ(Aγδß)0. This is the first report of Chinese Gγ(Aγδß)0-thalassemia combined with ß-thalassemia resulting in ß-thalassemia major in China. Screening for δß-thalassemia by Hb analysis could be an effective method.

[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. High performance liquid chromatography (HPLC) and capillary electrophoresis were performed to measure A1C. Hemoglobin electrophoresis was conducted to identify the hemoglobin variants. Hb sequencing was performed to determine the mutation sites on the ß chain. HPLC showed decreased A1C results, which could be corrected by electrophoresis, but the electrophoresis graph still showed abnormal peaks. The hemoglobin electrophoresis results suggested that there were hemoglobin variants, which hemoglobin sequencing results revealed to be Hb C. Uncommon variations in a specific population tend to be overlooked. To avoid clinical decision-making being affected by the results of a single test, we recommend that an explanatory reporting model be routinely adopted for A1C tests so that all reports always contain explanatory notes for the testing methodology and analysis of the graphs.

[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. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB). RESULTS: A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found. CONCLUSION: The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.

Hb Huadu [α124(H7)Ser→Thr (TCC>ACC), HBA2: 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 HBA2 gene, which results in the replacement of serine by threonine at codon 124 [α124(H7)Ser→Thr (TCC>ACC), HBA2: c.373T>A]. It is the first report of this variant, named Hb Huadu for the birthplace of the proband. In addition, the proband coinherited the heterozygous codons 41/42 (-TTCT) (HBB: c126_129delCTTT) on the ß-globin gene.

Detection of Hb Yulin [ß13(A10)Ala→Val, HBB: c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.

We report a rare hemoglobin (Hb) variant on the ß-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 GCC>GTC substitution at codon 13 on the ß-globin gene, causing a substitution of alanine to valine. The mutation is only described in the ITHANET database but no Hb variant name and other information, so we named it Hb Yulin after the place of origin of the proband in this study. Hb Yulin is clinically silent and easily leads to misdiagnosis during hemoglobinopathies screening based on the common methods of HPLC and CE.

Hb Laibin [ß96(FG3)Leu→Arg; HBB: c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family.

We report a novel ß 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 A2. DNA sequencing revealed a single base substitution (T>G) at codon 96 of exon 2 of the ß-globin gene. This alters the normally encoded leucine to arginine [ß96(FG3)Leu→Arg; HBB: c.290T>G] that we propose to name Hb Laibin for the region of origin of the proband. The pedigree study showed that it was inherited from his mother.

Hb Dahua [ß59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the ß-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 (51.2%) in zone 13. However, capillary isoelectric focusing electrophoresis (CIFE) presented an unknown peak in zone Bart's (51.4%). High performance liquid chromatography (HPLC) displayed an unknown peak (42.1%) at retention time 2.44 min., eluting before Hb A0. Direct DNA sequencing of the ß-globin gene revealed heterozygosity for a missense mutation at codon 59 (AAG>ATG), causing a lysine to methionine substitution [ß59(E3)Lys→Met; HBB: c.179A>T]. We decided to name the variant Hb Dahua for the place of origin of the proband.

Hb Hezhou [ß64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the ß-Globin Gene.

We report a novel mutation on the ß-globin gene, Hb Hezhou [ß64(E8)Gly→Ser; HBB: c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α+-thalassemia (α+-thal) -α4.2 (leftward) deletion, but hematological analyses showed no clinical consequences. Patient 2 was heterozygous for Hb Hezhou. Hemoglobin (Hb) analysis was performed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The Hb variant remained undetected using HPLC, while an additional peak was detected by CE. The finding of Hb Hezhou indicates that the possibilities of rare Hb variants should be alerted in the thalassemia screening program and precisely diagnosed depending on the Hb separation technique used.

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

ABSTRACT: 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 total of 1800 lumbar endplates were retrospectively accessed in 150 Chinese adults. Eighteen parameters of each lumbar segment were measured by three-dimensional computed tomography reconstructions from T12/L1 to L5/S1. These obtained parameters were compared between genders, bilateral sides, vertebral segments, and different populations.Endplate length and width increased in general, and there was a significant decrease for length/width ratio from T12 to S1 (P = .03). The average concavity depth of the lower lumbar endplate (2.09 ±â€Š0.93 mm) was usually larger than that of the upper lumbar endplate (1.61 ±â€Š0.74 mm) (P = .02). The percentage of the most concave point of the upper and lower lumbar endplate was 50.01 ±â€Š10.76% and 56.41 ±â€Š9.93%, respectively. Anterior, medium, or posterior intervertebral endplate height was severally 10.01 ±â€Š1.98 mm, 10.46 ±â€Š2.03 mm, and 6.41 ±â€Š1.74 mm, and increased among vertebral segments (P = .01).The intervertebral endplate angle significantly increased from T12-L1 to L5-S1 (P = .01). Parameters displayed significant difference between genders. The morphometric parameters of different populations also showed differences.In conclusion, there is a morphologic discrepancy in dimensions of lumbar endplate regarding genders, vertebral segments, and different populations. It is essential to design the lumbar disc prosthesis suited for Chinese patients specially, for which the morphometric parameters in our study can be utilized.

First Detection of Hb Cenxi [ß46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] by Capillary Electrophoresis.

We report a novel mutation on the ß-globin gene in a female of the Chinese population. This mutation produces a ß-globin variant that can be detected by the capillary electrophoresis (CE) method, but coelutes with Hb A2 by high performance liquid chromatography (HPLC). DNA sequencing showed a mutation of codon 46 and it was named Hb Cenxi [ß46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] for the city of birth of the proband. She presented normal hematological parameters.

A Chinese Male with Normal Hematological Indices and High Hb A2 Levels in ß-Thalassemia Trait.

ß-Thalassemia (ß-thal) is a common hematological disorder in the Guangxi Zhuang Autonomous Region of Southern China. Heterozygous ß-thal is usually associated with reduced hematological indices and increased Hb A2 levels. However, the preventive program of the regional government only conducts the screening of hematological indices [complete blood count (CBC)] especially at primary hospitals. In this study, we describe a male ß-thal patient presenting normal hematological indices but with a high Hb A2 level. We proposed that hemoglobin (Hb) analysis and CBC should be performed together in the preventive screening program in regions with a high thalassemia incidence to avoid misdiagnosis.

Detection of Hb A2 and Hb Constant Spring (HBA2: c.427T>C) by Capillary Electrophoresis in a Patient with Hb H-Hb CS Disease.

Hb A2 (α2δ2) is one of the key components looked for in hemoglobinopathies screening programs. Therefore, quantitative and accurate method for Hb A2 value determination is essential for routine screening. Here, we report a case of Hb A2 and Hb Constant Spring (Hb CS, HBA2: c.427T>C) with Hb H-Hb CS disease that was not detected by high performance liquid chromatography (HPLC), while Hb A2 and Hb CS were clearly quantified by capillary electrophoresis (CE).

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. Fourteen parameters with regard to the length, width, thickness, and trifurcate angle of each branch were measured. These parameters were compared between sex and sides (left or right). Meanwhile, the correlations between parameters and subject age, weight and height were assessed. RESULTS: The longest, widest and thickest branches of the ITB were the posterior band (59.82±5.14mm), anterior band (39.56±4.17mm) and central band (2.61±0.36mm), respectively. The length and thickness of ITB were significantly larger in males than in females (P<0.05). No significant differences were found between sides (P>0.05). The ITB thickness showed a negative correlation with subject age, while the length and width of the ITB were positively correlated with subject height and weight, respectively. CONCLUSIONS: This study provided an anatomical reference of trifurcate ITBs to help the release of ITB in valgus knees. The anatomical variations regarding the subject's sex, age, height and weight should be considered in the selective release of ITB.

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. Parameters of 60 patients (120 observations) between 35 and 55 years who have no experience of trauma or surgery before were involved in this study. The data were analyzed by SPSS, statistical software with the comparison between sexes and sides. After calculating the relative distances and angles between these points and canine fossa, the authors get the proportions of the upper part of PPF, and the pterygopalatine canal to PPF, respectively. The authors finally got the safety surgical range. The results are meaningful to safety in surgery and complication avoidance, which can be great references in clinical applications.

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. This study provides a new method to locate PPF by choosing some landmarks situated at lateral wall of nasal cavity as reference points to obtain credible and detailed information for clinical management. The authors measured the location of anterior wall, posterior wall, and medial wall of PPF in the planes of middle nasal concha osseous extremity, inferior nasal concha osseous extremity, and middle nasal meatus. In addition, the authors measured the distance and the angle between the upper and lower bound of the PPF and the apertura sinus maxillaris. All PPF and landmarks of 196 patients were well demonstrated on computed tomographic angiography images. The new location method is stable and direct. As for the shape of PPF, the line connecting anterior wall in different planes is curve, convex backward, and concave frontward. Pterygoplatione fossa tapers gradually. The authors also found that with the traditional method, after entering the maxillary sinus, the needle should be inserted <26 mm when aimed at the upper bound and 30 mm in women and 31 mm in men when aimed at the lower bound.

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. METHODS: A total of 1360 cervical endplates and 680 pairs of uncinate processes was retrospectively accessed in 136 Chinese adults. Eleven parameters of each cervical vertebra were measured by three-dimensional computed tomography reconstructions from C3 to C7. These obtained parameters were compared between sexes, bilateral sides, vertebral segments, and different populations. RESULTS: Five parameters regarding the cervical endplate increased from C3 to C7 in general. Concerning parameters with regard to the uncinate process, the uncinate process distance gradually increased among vertebral segments, and anterior distance was always larger than the posterior distance. The value of left uncinate process angle was on average 0.84° larger than that of the right side, and lower cervical segments had an obviously larger angle. Uncinate process length increased among segments, and no significant difference existed between bilateral sides. Parameters displayed significant difference between sexes. The morphometric parameters of various populations also showed differences. CONCLUSION: There is a morphologic discrepancy in dimensions of cervical vertebrae regarding sexes, bilateral sides, vertebral segments, and different populations. It is essential to design cervical disc prostheses suited specifically for Chinese patients, for whom the morphometric parameters in our study concerning the cervical endplate and uncinate process can be utilized.

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 ß-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.79 G > A) that also coelutes with Hb A2 in this method. However, we found that capillary electrophoresis (CE) was able to detect Hb Matera and discriminate it from Hb E, based on the quantification of the peaks and on hematological parameters.

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

Hb Köln (HBB: c.295G>A) is an unstable ß-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. It can easily be misdiagnosed as Hb Constant Spring (Hb CS; HBA2: c.427T>C) by high performance liquid chromatography (HPLC), but detection and quantification of both Hb Köln and degraded Hb Köln by capillary electrophoresis (CE) are possible. Thus, we concluded that CE was the preferred method for Hb Köln detection.