Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population

2021 ◽  
Vol 59 (1) ◽  
pp. 227-232
Author(s):  
Anping Xu ◽  
Weidong Chen ◽  
Weijie Xie ◽  
Yajun Wang ◽  
Ling Ji
Keyword(s):  
High Performance ◽  
Southern China ◽  
Hematological Parameters ◽  
Large Population ◽  
Hypochromic Anemia ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Hematological Analysis ◽  
Hemoglobin Variants ◽  
Hb Variant

AbstractObjectivesHemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China.MethodsWe collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples.ResultsAmong the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia.ConclusionsThe prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.

Unintended Reporting of Misleading Hb A1c Values When Using Assays Incapable of Detecting Hemoglobin Variants

2013 ◽  
Vol 137 (12) ◽  
pp. 1788-1791 ◽  
Author(s):  
Jeanne M. Rhea ◽  
David Koch ◽  
James Ritchie ◽  
Harsh V. Singh ◽  
Andrew N. Young ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Compound Heterozygous ◽  
Hb A1c ◽  
Cell Life ◽  
High Prevalence ◽  
Hb S ◽  
Hemoglobin Variants ◽  
Hb Variant

Context.—It is recommended that hemoglobin (Hb) A1c (Hb A1c) not be used to assess average glycemia in patients who have altered red blood cell life span. Objective.—To investigate the frequency of reporting an Hb A1c value for Hb variant samples that do not include Hb A. Design.—Hb A1c samples (n = 500) were procured and screened for Hb variants that may affect Hb A1c interpretation (Hb SS, Hb SC, and Hb S–β-thalassemia). Five of each of these samples were tested by ion-exchange high-performance liquid chromatography, immunoturbidimetric assay, second-generation immunoturbidimetric assay, and affinity chromatography. Results.—Eleven (2.2%) homozygous Hb SS, 6 (1.2%) Hb SC, and 5 (1.0%) Hb S–β-thalassemia samples were identified out of the 500 samples tested. Three of 4 instruments investigated in this study are known to not be plagued by analytic interference from these Hb variants but disturbingly reported Hb A1c values in the absence of Hb A. Conclusions.—The improved analytic specificity of Hb A1c platforms has by and large eliminated interferences from the most common heterozygous Hb variants. A consequence, however, is the potential for unintended reporting of Hb A1c results in the presence of homozygous and compound heterozygous Hb variants that lack Hb A and the inability to distinguish those samples not recommended to be used for patient care. The ability to identify samples harboring Hb variants that preclude the utility of Hb A1c may be beneficial in high prevalence populations.

scholarly journals Molecular characteristics of HBV infection among blood donors tested HBsAg reactive in a single ELISA test in southern China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xianlin Ye ◽  
Tong Li ◽  
Ran Li ◽  
Heng Liu ◽  
Junpeng Zhao ◽  
...  
Keyword(s):  
Viral Load ◽  
Hepatitis B ◽  
Nested Pcr ◽  
Blood Donors ◽  
Southern China ◽  
Core Promoter ◽  
Elisa Test ◽  
Hbv Infection ◽  
Molecular Characteristics ◽  
Blood Samples

Abstract Background Hepatitis B virus (HBV) infection is a major concern for blood safety in high-prevalence HBV countries such as China. In Shenzhen, dual hepatitis B surface antigen (HBsAg) enzyme-linked immunosorbent assays (ELISAs) have been adopted in parallel with nucleic acid testing (NAT) for donors for over a decade. A small proportion of blood donors test reactive (R) for HBsAg but negative through routine NAT, which can lead to HBV infection with an extremely low viral load. Objectives We aimed to investigate and analyze the molecular characteristics of HBV among blood donors that tested HBsAg R in a single ELISA test. Methods Blood donations were evaluated in this study if confirmed HBsAg R through one of two ELISA kits. Samples with non-reactive (NR) results by NAT were collected and tested for HBsAg by chemiluminescent microparticle immunoassay (CLIA) with a neutralization test. The level of HBsAg was further assessed by electrochemiluminescence immunoassay (ECLIA). The viral basic core promoter (BCP) and pre-core (PC) and S regions were amplified by nested PCR. Quantitative real-time PCR (qPCR) for viral load determination and individual donation (ID)-NAT were adopted simultaneously. HBsAg was confirmed with CLIA, ECLIA, nested PCR, qPCR, and ID-NAT. Results Of the 100,252 donations, 38 and 41 were identified as HBsAg R with Wantai and DiaSorin ELISA kits, respectively. Seventy-nine (0.077%, 79/100,252) blood samples with ELISA R-NR and NAT NR results were enrolled in the study. Of these, 17 (21.5%,17/79) were confirmed as HBsAg-positive. Of the 14 genotyped cases, 78.6% (11/14) were genotype B, and C and D were observed in two and one sample, respectively. Mutations were found in the S gene, including Y100C, Y103I, G145R, and L175S, which can affect the detection of HBsAg. A high-frequency mutation, T1719G (93.3%), was detected in the BCP/PC region, which reduced the viral replication. Conclusion A small number of blood samples with HBsAg ELISA R-NR and NAT NR results were confirmed as HBV infection, viral nucleic acids were found in most of the samples through routine NAT methods. It is necessary to employ more sensitive and specific assays for the detection of HBV infection among blood donors.

scholarly journals Evaluation of four different HPLC devices for hemoglobinopathy screening

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Müjgan Ercan Karadağ ◽  
Emiş Deniz Akbulut ◽  
Esin Avcı ◽  
Esra Fırat Oğuz ◽  
Saadet Kader ◽  
...  
Keyword(s):  
Gold Standard ◽  
High Performance ◽  
Public Health Problem ◽  
Reference Value ◽  
Comparison Study ◽  
Gold Standard Method ◽  
Blood Samples ◽  
Systematic Biases ◽  
Hemoglobin Variants ◽  
Thalassemia Screening

AbstractObjectiveHemoglobinopathies are a common public health problem in Turkey. In the screening of these disorders in population, cation-exchange high performance liquid chromatography (HPLC) is accepted as the gold standard method. In this study, the aim was to assess four different HPLC devices used in hemoglobinopathy screening.Materials and methodsA total of 58 blood samples were analyzed with four different HPLC methods (Bio-Rad variant II, Agilent 1100, Tosoh G8 and Trinity Ultra2 trademarks).ResultsThe comparison study demonstrated a good correlation between the results of each HPLC analyzer and the reference value obtained by averaging all the HbA2 results belonging to the methods tested in the study [ (Tosoh G8 (r=0.988), Bio-Rad variant II (r=0.993), Agilent 1100 (r=0.98) and Trinity Ultra2 (r=0.992) ]. HbA2 determination in the presence of HbE was interfered in both Bio-Rad variant II and Tosoh G8.ConclusionThe analyzers were found to have compatible HbA2 results but with accompanying different degrees of proportional and systematic biases. HPLC analyzers may be affected by different hemoglobin variants at different HbA2 concentrations, which is an important point to take into consideration during the evaluation of HbA2 results in thalassemia screening.

Hemoglobin variants, hematological parameters andβ-globin gene cluster haplotypes in an isolated Amerindian group from the Orinoco River Delta

2008 ◽  
Vol 35 (2) ◽  
pp. 250-255 ◽  
Author(s):  
Anabel Arends ◽  
Marycarmen Chacín ◽  
Martha Bravo-Urquiola ◽  
Tibisay Arends De O ◽  
Maritza Álvarez ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Hematological Parameters ◽  
Globin Gene ◽  
River Delta ◽  
Orinoco River ◽  
Globin Gene Cluster ◽  
Hemoglobin Variants

scholarly journals Positivity and prevalence of human papillomavirus among a large population of Hakka women in southern China

2019 ◽  
Author(s):  
Sudong Liu ◽  
Xiaodong Gu ◽  
Ruiqiang Weng ◽  
Jing Liu ◽  
Zhixiong Zhong
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Vaccine Development ◽  
Screening Program ◽  
Southern China ◽  
Large Population ◽  
Hpv Infection ◽  
Infection Prevalence ◽  
Specific Distribution ◽  
Hpv Genotypes

Abstract Background Human papillomavirus (HPV) infections are known to be the main cause of cervical cancer. Thus, detecting HPV genotypes is of great significance for cervical cancer screening. To formulate strategies for prevention of cervical cancer, we studied the HPV infection prevalence and age-specific distribution of female in Hakka area of southern China. Method From January, 2016 to July, 2018, 36,871 women from gynecological or reproductive center of Meizhou People’s Hospital (Huangtang Hospital), Meizhou Hospital Affiliated to Sun Yat-sen University were recruited in this study. HPV genotypes was detected by flow cytometry method. Results HPV infection was observed in 18.34% of the participants, and approximately 79.98% of them were infected with high-risk HPV. The 5 most prevalent genotypes were HPV 52 (18.18%), HPV 16 (16.06%), HPV 58 (11.37%), HPV 53 (8.82%) and HPV 39 (6.42%). The most intensive HPV infections were observed in women aged 40-49 and women aged 30-59 added up to 79.62% of positive patients. Conclusion The high HPV infection rate in this Hakka area highlighted the necessity of screening program for HPV infection and cervical cancer among women. The findings of HPV genotypes and the age specific distribution of HPV infection in this area will contribute to the future vaccine development.

scholarly journals Pharmaceutical Analysis of An Anti-Diabetic Formulation: Kimshukatvagadi Ghana Capsule

2021 ◽  
Vol 12 (2) ◽  
pp. 247-250
Author(s):  
Garima Singh ◽  
Shailesh V Deshpande ◽  
Rinjin G Krishna
Keyword(s):  
High Performance ◽  
Curcuma Longa ◽  
Large Population ◽  
Herbal Medicines ◽  
Chemical Components ◽  
Butea Monosperma ◽  
Solvent Systems ◽  
Strychnos Potatorum ◽  
Layer Chromatography ◽  
Salacia Reticulata

Ayurveda is one of the oldest and holistic science. Herbal medicines have a long therapeutic history; serving many of the health needs of large population of the world. However, the quality control and assurance remains as a challenge due to the high discrepancy of chemical components involved. In Ayurvedic texts, several formulations have been mentioned in Prameha (Diabetes Mellitus). Kimshukatvagadi is one such formulation mentioned in Sahasrayoga Vati Prakarana adhyaya. It contains Palash (Butea monosperma Lam.), Haridra (Curcuma longa L.), Amalaki (Emblica officinalis L.), Kataka (Strychnos potatorum L.f.), Vairi (Salacia reticulata Wight). Kimshukatvagadi Vati was converted into Ghana to increase its potency and then it was sealed into Capsule for increasing the shelf life, making it easy to dispense, dose fixation etc. Kimshukatvagadi Ghana Capsule was subjected to organoleptic analysis, phytochemical and qualitative analysis to detect the presence of various functional groups, and to high performance thin layer chromatography (HPTLC) examination by optimizing the solvent systems.

scholarly journals First Report of Root and Stem Rot Caused by Phytophthora nicotianae on Peperomia tetraphylla in China

Plant Disease ◽  
2010 ◽  
Vol 94 (9) ◽  
pp. 1171-1171 ◽  
Author(s):  
D. X. Zeng ◽  
X. L. Wu ◽  
Y. H. Li
Keyword(s):  
Southern China ◽  
Aerial Mycelium ◽  
Its Region ◽  
Soil Extract ◽  
Phytophthora Nicotianae ◽  
Stem Rot ◽  
Molecular Characteristics ◽  
Its Sequence ◽  
First Report ◽  
Pure Cultures

Peperomia tetraphylla, an evergreen herb, is becoming increasingly popular as a potted ornamental plant in southern China. In the summer of 2008, in some commercial flower nurseries in Shenzhen, Guangdong Province, P. tetraphylla showed extensive black stem and root rot, with leaves dropping from the rotten stem. Small pieces (approximately 3 mm2) of stems and leaves were excised from the margins of the black lesions, surface disinfected for 30 s to 1 min in 0.1% HgCl2, plated onto potato dextrose agar (PDA), and incubated at 25°C in the dark. All the plated samples yielded Phytophthora, and microscopic examination of pure cultures grown on PDA plates showed arachnoid colonies with abundant aerial mycelium, chlamydospores, and a few sporangia. Numerous sporangia were formed in sterile soil extract. Sporangia were ovoid or obpyriform, noncaducous, with prominent solitary papillae, and measured 31 to 52 μm (average 38 μm) × 21 to 34 μm (average 27 μm). Chlamydospores were spherical and 21 to 34 μm in diameter (average 28 μm). The internal transcribed spacer (ITS) region of rDNA of a single isolate was amplified using primers ITS4/ITS5 and sequenced (2). The ITS sequence, when submitted for a BLAST search in the NCBI database, showed 100% homology with the sequences of two reference isolates of Phytophthora nicotianae (Accession Nos. AY833526 and EU433396) and the consensus ITS sequence was deposited in the NCBI as Accession No. GQ499373. The isolate was identified as Phytophthora nicotianae on the basis of morphological and molecular characteristics (1). Pathogenicity of the isolate was confirmed by inoculating 1-year-old plants of P. tetraphylla growing in pots. The isolate was grown for 7 days on PDA plates and mycelial plugs, 5 mm in diameter and taken from the advancing margins of the colonies, were buried approximately 1 cm deep near the base of the stem in such a way that the mycelium on the plugs was in contact with the surface of the stem, which had been wiped earlier with 70% ethanol and gently wounded with a needle. Plants treated the same way but inoculated with sterile PDA plugs served as control plants. Three plants in each pot were inoculated and there were five replications each for the treatment and the control. All plants were kept in a greenhouse at 22 to 32°C. After 6 to 7 days, the inoculated plants showed black lesions around the mycelial plugs; symptoms of root and stem rot developed rapidly thereafter and the plants collapsed within 2 weeks. All symptoms on the inoculated plants were identical to those observed in naturally diseased plants, whereas the control plants remained healthy. The same fungus was consistently reisolated from the inoculated plants. To our knowledge, this is the first report of Phytophthora nicotianae on P. tetraphylla in China. References: (1) D. C. Erwin and O. K. Ribeiro. Phytophthora Diseases Worldwide. The American Phytopathological Society, St. Paul, MN, 1996. (2) J. B. Ristaino et al. Appl. Environ. Microbiol. 64:948, 1998.

scholarly journals Molecular characteristics of carbapenem-resistant Acinetobacter spp. from clinical infection samples and fecal survey samples in Southern China

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Si Li ◽  
Xiaonv Duan ◽  
Yuan Peng ◽  
Yongyu Rui
Keyword(s):  
Efflux Pump ◽  
Southern China ◽  
Variable Region ◽  
Carbapenem Resistance ◽  
Resistant Bacteria ◽  
Molecular Characteristics ◽  
Clinical Infection ◽  
High Genetic Diversity ◽  
Carbapenem Resistant ◽  
Opportunistic Bacteria

Abstract Background Carbapenem resistance among Acinetobacter species has become a life-threatening problem. As a last resort in the treatment of gram-negative bacteria infection, resistance to colistin is also a serious problem. The aim of study was to analyze the mechanism of resistance and perform genotyping of carbapenem-resistant Acinetobacter from clinical infection and fecal survey samples in Southern China. Methods One hundred seventy and 74 carbapenem-resistant Acinetobacter were isolated from clinical infection samples and fecal survey samples, respectively. We detected the related genes, including carbapenemase genes (blaKPC, blaIMP, blaSPM, blaVIM, blaNDM, blaOXA-23-like, blaOXA-24/40-like, blaOXA-51-like, and blaOXA-58-like), colistin resistance-related genes (mcr-1, mcr-2, mcr-3, mcr-4, and mcr-5), a porin gene (carO), efflux pump genes (adeA, adeB, adeC, adeI, adeJ, and adeK), mobile genetic element genes (intI1, intI2, intI3, tnpU, tnp513, IS26, ISAba1, and ISAba125), and the integron variable region. Genotyping was analyzed by enterobacterial repetitive intergenic consensus (ERIC)-PCR and dendrogram cluster analysis. Results Among the 244 carbapenem-resistant Acinetobacter, the common carbapenemase-positive genes included the following: blaOXA-51-like, 183 (75.00%); blaOXA-23-like, 174 (71.30%); blaNDM-1, 57 (23.40%); and blaOXA-58-like, 30 (12.30%). The coexistence of mcr-1 and blaNDM-1 in five strains of A. junii was found for the first time. Eleven distinct carO gene variants were detected in 164 (67.20%) strains, and ten novel variants, which shared 92–99% identity with sequences in the Genbank database, were first reported. Efflux system genes were present in approximately 70% of the isolates; adeABC and adeIJK were observed in 76.23 and 72.13%, respectively. Class 1 integrons were detected in 180 (73.80%) strains and revealed that four gene cassette arrays contained 11 distinct genes. The genotyping by ERIC-PCR demonstrated a high genetic diversity of non-baumannii Acinetobacter, and greater than 90% similarity to A. baumannii. Conclusions The blaNDM-1 gene was identified in up to 77% of the carbapenem-resistant Acinetobacter isolated from fecal survey samples, indicating that the gut might be a reservoir of resistant opportunistic bacteria. Intestinal bacteria can be transmitted through the fecal-hand, which is a clinical threat, thus, the monitoring of carbapenem-resistant bacteria from inpatients’ feces should be improved, especially for patients who have been using antibiotics for a long time.

Analytical Evaluation of BioRad D-100 HPLC Analyzer and Workflow Comparison to BioRad TurboLink Variant II HPLC With Reflex to Boronate Affinity

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S12-S13
Author(s):  
Kornelia Galior ◽  
Lisha Leonard ◽  
Christopher Dolan ◽  
Ryan Deiter ◽  
Nikola A Baumann ◽  
...  
Keyword(s):  
Cation Exchange ◽  
High Performance ◽  
Exchange Chromatography ◽  
Rule Violation ◽  
Before And After ◽  
Patients With Diabetes ◽  
Unknown Peak ◽  
Reflex Testing ◽  
Boronate Affinity Chromatography ◽  
Hemoglobin Variants

Abstract Introduction Measurement of hemoglobin A1c (HbA1C) is used for the diagnosis and management of patients with diabetes. Methods for measuring HbA1C are classified on the basis of charge differences (cation exchange chromatography) or structural differences (boronate affinity chromatography). Some cation exchange high-performance liquid chromatography (HPLC) analyzers may be prone to interferences from hemoglobin variants. Historically, our lab used two methods to report HbA1C results: cation exchange HPLC (VariantII) with reflex to boronate affinity HPLC (Ultra2) methods. A new analyzer (BioRad D-100) with improved interference detection and thresholds for interference was evaluated. The objectives of this study were (1) assess the comparability of HbA1c results between D-100, VariantII, and Ultra2; (2) evaluate the need for maintaining a reflex method; and (3) calculate cancellation rates before and after implementing D-100. Methods HbA1c was measured by cation exchange methods using VariantII Turbolink, D-100 (BioRad), and boronate affinity using Ultra2Affinity (Trinity Biotech) according to the manufacturer’s recommendations with the following analytical measuring ranges (AMRs), 4.0% to 17.6%, 4.0% to 18.0%, and 4.0% to 17.6%, respectively. D-100 was compared to VariantII (n = 26) and Ultra2 (n = 31) using residual patient samples from provider-ordered HbA1c having no chromatography flags and with the following chromatography flags on VariantII (n = 113): variant window (n = 41), HbA1c <4.0% (n = 24), HbA1a + HbA1b >5% (n = 19), HbF >5% (n = 9), P3 >10% (n = 6), HbA1c >17.6% (n = 4), unknown peak (n = 3), labile 5% to 15% (n = 3), labile >15% (n = 3), and HbS >60% (n = 1). The cancelation rates were calculated at baseline (January 1-31, 2018) and postimplementation of D-100 (September 20, 2018, to January 22, 2019). Results HbA1c results from D-100 were within ±0.3 or 5% with the following frequencies: Ultra2 in 96.2% (25/26) with VariantII in 96.8% (30/31) using samples with no chromatography flags. A total of 113 samples with abnormal VariantII flags were tested using D-100 with 82% (n = 92) not exceeding interference limits for result reporting. These D-100 results were within ±0.3 or 5% of Ultra2 results with the following frequencies: 38.5% (10/26) of samples below (n = 23) or above (n = 3) the AMR, 85.3% (29/34) of results with Hb variant flags, 68.0% (17/25) with unknown/minor peaks, and 71.4% (5/7) with HbF <15%. The clinical concordance was also assessed according to the following decision limits: normal <5.6%, prediabetic = 5.7% to 6.4%, and diabetic >6.5%. Results were concordant in 88% with variant peaks (12/13 w/HbA1c <5.6%, 8/11 w/HbA1c = 5.7%-6.4%, 10/10 w/HbA1c >6.5%), 84% with minor peaks (5/6 w/HbA1c <5.6%, 0/2 w/HbA1c = 5.7%-6.4%, 16/17 w/HbA1c >6.5%), and 86% with HbF (3/3 w/HbA1c <5.6%, 2/3 w/HbA1c = 5.7%-6.4%, 1/1 w/HbA1c >6.5%). Results above/below AMR had 100% concordance (>16.0% or <4.4%). The frequency of VariantII rule violation was 2.1% in January 2018, with 53 of 117 having results confirmed as <4.0% or >16.0% by Ultra2, 2 of 117 reported by Ultra2, and 62 being cancelled due to HbF >15% (n = 23) or variant Hb >60% (n = 39). The frequency of rule violation using only D-100 since implementation was 2.2%. Conclusion Implementation of D-100 has removed the need for boronate affinity reflex testing and maintained similar cancellation rates.

scholarly journals Alpha and beta-Thalassemia mutations in Hubei area of China

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yaowu Zhu ◽  
Na Shen ◽  
Xiong Wang ◽  
Juan Xiao ◽  
Yanjun Lu
Keyword(s):  
Mean Corpuscular Volume ◽  
Southern China ◽  
Hubei Province ◽  
Beta Thalassemia ◽  
Corpuscular Volume ◽  
Dot Blot ◽  
Inherited Disorders ◽  
Great Heterogeneity ◽  
Reverse Dot Blot

Abstract Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β-Thalassemia in Hubei Province in the central of China. Methods A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). Results 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with β-thalassemia mutations, and 25 (0.51%) subjects with both α- and β-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. --SEA/αα (66.05%), −α3.7/αα (24.12%), and -α4.2/αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. βIVS-II-654/βN, βCD41–42/βN, βCD17/βN, βCD27–28/βN, βCD71–72/βN, β − 28/βN, β − 29/βN, βCD43/βN, βE/βN, accounting for 96.40% of all β-thalassemia genotypes. Furthermore, mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) were sensitive markers for both β-thalassemia and α-thalassemia with --SEA/αα, but not -α3.7/αα and -α4.2/αα. Conclusions: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.

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