OBJECTIVE: To investigate the possible causes of abnormal hemoglobin electrophoresis results. METHODS: The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed. RESULTS: The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J. CONCLUSION Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.
Humans ; Female ; Pregnancy ; beta-Thalassemia/genetics* ; Anemia, Iron-Deficiency ; Fetal Hemoglobin/analysis* ; alpha-Thalassemia ; Blood Protein Electrophoresis ; Hemoglobin A2/analysis* ; Hemoglobins, Abnormal/analysis*

OBJECTIVETo analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia.

METHODSPeripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site ofγ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing.

RESULTSAll patients have presented hypochromic microcytic anemia and hemoglobin fraction with significant increased measurement (30.5%-59.2%) in the region of fetal hemoglobin during alkaline medium electrophoresis. DNA analysis suggested that all patients have carried mutations leading to the unstable hemoglobin Rush (HBB codon 101, GAG>CAG, Glu>Gln). Two of them were compound heterozygotes of Hb Rush and thalassemia mutations of -α,CD17 and Hb E, respectively. Hb Rush mutation was associated with various haplotypes of the β-globin gene cluster. No significant association was found between increased abnormal hemoglobin fraction in the region of Hb F and the polymorphism ofγ promoter or large deletion of the beta-globin gene cluster.

CONCLUSIONThis study has confirmed the distribution of Hb Rush among various Chinese populations and is the third report of its kind. Hb Rush can result in increased measurement of hemoglobin fraction in the region of fetal hemoglobin (Hb F) during routine hemoglobin electrophoresis under alkaline condition. Hb Rush heterozygote alone can lead to hypochromic microcytic anemia and thalassemia-like phenotype. Prenatal diagnosis of Hb Rush is necessary for carriers.

Adult ; Base Sequence ; Blood Protein Electrophoresis ; methods ; Female ; Fetal Hemoglobin ; genetics ; metabolism ; Genotype ; Haplotypes ; Hemoglobins, Abnormal ; genetics ; metabolism ; Heterozygote ; Humans ; Infant ; Mutation ; Phenotype ; Polymorphism, Genetic ; Sequence Analysis, DNA ; methods ; Thalassemia ; blood ; diagnosis ; genetics ; Young Adult ; alpha-Globins ; genetics ; metabolism ; beta-Globins ; genetics ; metabolism

OBJECTIVETo analyze the genotype-phenotype correlation among carriers from Guangdong with co-inherited hemoglobin Hb Westmead (HbWS) and β-thalassemia.

METHODSTwenty three patients (including 9 males and 14 females, aged 1-53 year old) were diagnosed by hematological analysis and genetic testing. Complete blood cell count and hemoglobin electrophoresis analysis were performed on a XE4000i automatic hemocyte analyzer. Hb, HbF and HbA2 were tested by high performance liquid chromatography (HPLC). Gap-PCR was adopted to detect three common thalassemia deletions. Reverse dot-blotting (RDB) assay was applied for detecting three common non-deletional α2 gene mutations and β-thalassemia.

RESULTSAmong the 23 patients, 12 showed anemia, among whom 9 had mild anemia and 3 had moderate anemia. The lowest Hb was 68 g/L, and both mean corpuscular volume and mean corpuscular hemoglobin were lower than average, while HbA2 was higher than 3.5%. Genetic analysis confirmed that 5 cases had αWS-α/α-α, β CD654/β N (21.7%), 4 had α WS-α/α-α, β CD41-42/β N (17.4%), 5 had α WS-α/α-α, β CD17/β N (21.7%), 4 had α WS-α/α-α, β CD28/β N (17.4%), 1 had α WS-α/α-α, β CD71-72/β N (4.3%), 1 had αWS-α/α-α, β CD27-28/β N (4.3%), 1 had α WS-α/α-α, β CD41-42/β CD17 (4.3%), 2 had a concomitant β-thalassemia heterozygosity and -α 3.7 deletion.

CONCLUSIONPatients with co-existing Hb WS and other β-thalassemia trait may show variable clinical features. Such compound heterozygotes are usually misdiagnosed during screening by hemoglobin electrophoresis, accurate diagnose should be attained by molecular diagnosis.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Erythrocyte Indices ; Female ; Genetic Association Studies ; methods ; Genotype ; Hemoglobins ; genetics ; metabolism ; Hemoglobins, Abnormal ; genetics ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; methods ; Young Adult ; beta-Thalassemia ; blood ; ethnology ; genetics

OBJECTIVETo investigate the hematological and molecular characteristics of hemoglobin Q-Thailand in Guangxi, so as to provide reference data for hemoglobinopathy screening.

METHODSA total of 51088 samples were screened by capillary electrophoresis. Samples suspected with Hb Q-Thailand were processed with blood cell count and DNA sequencing. Gap-PCR and PCR-reverse dot blotting were used for the detection of common mutations of alpha and beta thalassemia.

RESULTSThe carrier rate of Hb Q-Thailand in Guangxi was 0.06%. The hematological phenotype index(HGB, MCV, MCH, Hb Q-Thailand, Hb A2, Hb QA2) of 28 Hb Q-Thailand heterozygous samples were (125.60±22.30) g/L, (78.22±4.81) fl, (25.79±2.14) pg, (27.37±2.72)%, (1.89±0.22)%, (0.69±0.16)%, respectively, and of 2 Hb Q-Thailand heterozygous combined with beta-thalassemia samples were (125.00±18.39) g/L, (69.65±5.02) fl, (22.00±0.0) pg, (14.80±0.71)%, (4.45±0.07)%, (0.95±0.71)%, respectively. A statistical difference was found in hematological phenotype index between the two groups except HGB (P<0.05).

CONCLUSIONIn Guangxi, the detected Hb Q-Thailands were mainly heterozygous. Part of Hb Q-Thailand heterozygotes had normal red blood cell parameters, but can still be detected by hemoglobin electrophoresis. When combined with other types of thalassemia, these heterozygotes may still exhibit reduced MCV and MCH or various degrees of anemia.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Base Sequence ; Child ; Child, Preschool ; China ; Electrophoresis, Capillary ; Female ; Genotype ; Hemoglobins, Abnormal ; analysis ; genetics ; metabolism ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Phenotype ; Thalassemia ; blood ; genetics ; Young Adult

No abstract available.
Aged ; Diabetes Mellitus, Type 2/pathology ; *Electrophoresis, Capillary ; Hemoglobin A, Glycosylated/*analysis ; Hemoglobins, Abnormal/*analysis ; Humans ; Male

OBJECTIVETo explore the feasibility of using next-generation sequencing technology (NGS) to screen the neonatal thalassemia genes.

METHODSPlantar blood of 206 cases of neonatal born in our hospital were randomly collected to be made into dried blood, which can be screened for thalassemia genes by next-generation sequencing, and then a further analysis would be performed on the basis on the detection results.

RESULTSIn 206 cases of neonates tested, the thalassemia gene mutations in 22 cases were screened, including 11 cases of alpha-thalassemia, 11 cases of beta-thalassemia, 5 cases of new mutations. Out of 11 cases of alpha-thalassemia 7 cases were proved to be the gene deletion, accounting for 64% (7/11), and the specific genotype distribution was as follows: 4 cases of αα/-α(3.7), 2 cases of αα/-SEA, 1 case of αα/-α(4.2), the remaining 4 cases with point mutations (4/11, 36%): Hb Part-Dieu hybrid, Hb Quong Sze hybrid, Hb Westmead hybrid, HBA1: c. 95 + 9 c > T (rewly discovered gene mutation). The whole 11 cases of β-thalassemia are proved to be with beta chain point mutations, 7 kinds of mutation genotype were detected , CD17 (A->T) is the most common point locus mutation, accounted for 27% (3/11), and 50 G>A hybrid in 2 cases, 1 cases of Hb Hamilton hybrid, IVS-II-654 (C->T) in 1 case. The remaining 4 cases are of the new gene point mutation, they are as follows respectively: HBB: c. 316-116 c>A, HBB: c.316-248G>T, HBB: c.315 + 63 T>c, HBB: c. -23 A>G.

CONCLUSIONThe next-generation sequencing technology can be used to screen neonatal plantar dried blood for the thalassemia genetic mutation, which not only can effectively detect thalassemia gene types, but also can look for new gene mutations. The advantages of this method include easy collecting samples, precise result and wide use for clinical diagnosis, thus possibly give an early diagnosis for thalassemia.

DNA Mutational Analysis ; Gene Deletion ; Genotype ; Hemoglobins, Abnormal ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Mutation ; Point Mutation ; alpha-Thalassemia ; genetics ; beta-Thalassemia ; genetics

Most haemoglobin (Hb) variants are clinically silent. However, some Hb variants may interfere with the measurement of haemoglobin A1c (HbA1c), resulting in spurious values depending on the assays used. We herein report the case of a 53-year-old Taiwanese man with type 2 diabetes mellitus, who presented with an abnormal HbA1c peak on ion-exchange chromatography. Additional investigations, including intensified self-monitored blood glucose tests, an alternative HbA1c assay, and a glycaemic indicator based on a different method, revealed that the HbA1c values were falsely elevated. Subsequent DNA analysis confirmed that the patient was heterozygous for the insertion of an isoleucine residue at codons 117/118 of the a1-globin gene, Hb Phnom Penh. Clinical laboratorians should be aware of the interfering factors in their HbA1c analysis. Cautious inspection of the chromatogram may provide a valuable clue to the presence of an Hb variant.
Chromatography, High Pressure Liquid ; Chromatography, Ion Exchange ; Diabetes Complications ; blood ; Diabetes Mellitus, Type 2 ; blood ; complications ; Dyslipidemias ; blood ; complications ; Hemoglobins, Abnormal ; analysis ; Humans ; Hypertension ; blood ; complications ; Hypoglycemia ; blood ; Male ; Middle Aged ; Reproducibility of Results ; Sequence Analysis, DNA ; Taiwan

Chromatography, Ion Exchange ; Hemoglobins, Abnormal ; analysis ; Humans ; Male

Chromatography, Ion Exchange ; Hemoglobins, Abnormal ; analysis ; Humans ; Male

OBJECTIVETo investigate the incidence and the gene mutation frequencies and patterns of β-thalassemia (β-Thal) in ethnic Han children in Chongqing city.

METHODA total of 1726 children were screened by using automatic hemocytic analyzer, cellulose acetate electrophoresis and fetal hemoglobin alkali denaturation test. Samples with mean corpuscular volume (MCV) < 80 fl, cell hemoglobin content (MCH) < 27 pg and hemoglobin A2 (HbA2) levels >3.3%, fetal hemoglobin (HbF) >2% for β-Thal screening indicators. The positive samples of screening indicators were detected and identified by PCR-reverse dot blot method for 18 common β-Thal mutations in Chinese populations, unknown mutations samples were subjected to DNA sequencing analysis of the β-globin gene.

RESULTTwenty-five cases of β-Thal carriers were observed from the 1726 samples, with 24 cases of β-Thal heterozygote and one case of double heterozygote. Therefore, the β-Thal carrier rate was 1.51%. After 1726 peripheral venous blood samples analyzed by hematological parameters, 164 positive cases of β-Thal screening indicators were found, with the positive rate being 9.50% (164/1726). A total of 6 different gene mutations were detected, the four most common mutations were as the following: CD41-42, IVS-II-654, CD17 and beta E. These four mutations as the major types in this area accounted for 88.00% of all the mutations. In addition, one rare mutation of 5 'UTR; + (43 -40) was found, and one case of the hemoglobin variant of Hb Zurich was reported in Chinese people for the first time.

CONCLUSIONChongqing is a high risk region of the β-Thal. Epidemiological Data from the research was useul for the genetic counseling and the prevention of β-Thal major.

Asian Continental Ancestry Group ; genetics ; Blood Chemical Analysis ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Gene Frequency ; Genetic Counseling ; Hemoglobins ; analysis ; genetics ; Hemoglobins, Abnormal ; analysis ; genetics ; Heterozygote ; Humans ; Infant ; Male ; Mutation ; genetics ; Prevalence ; beta-Globins ; genetics ; beta-Thalassemia ; epidemiology ; ethnology ; genetics