Genetic Mutation Types Detected in 25 Blood Samples of KHMER Patient with Beta-thalassemia in Bac Lieu Province

2015 ◽  
pp. 253-256
Author(s):  
Pham Thi Ngoc Nga ◽  
Nguyen Trung Kien
Keyword(s):  
Genetic Mutation ◽  
Beta Thalassemia ◽  
Blood Samples

scholarly journals Role of Point-of-Care Device in Improving Sickle Cell Newborn Screening Feasibility in Haiti

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3670-3670
Author(s):  
Ofelia A. Alvarez ◽  
Tally Hustace ◽  
Mimose Voltaire ◽  
Rodrigueson Rizil ◽  
Ulrick Liberus ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Point Of Care ◽  
Screening Method ◽  
Beta Thalassemia ◽  
Blood Samples ◽  
Confirmatory Testing ◽  
Hemoglobin C

Abstract Introduction: Until 2017, hemoglobinopathy newborn screening (NBS) was not offered in Haiti, a country with about 243,000 births per year. Sickle SCAN is a rapid point-of-care (POC) with lateral flow immunoassay technology, but its role in NBS is unknown. Recently, over 100 dried blood samples from newborns were tested [Nguyen-Khoa T, Ann Biol Clin (Paris), 2018] in France with accurate results. Objective: This work had the objective to be proof-of-concept that a hospital-based NBS program is feasible in Haiti and to examine the role of Sickle SCAN in NBS in a larger sample size. Methods: The Ethics Committee at the Universitaire Justinien Hospital (HUJ) and the Institutional Review Board at the University of Miami approved this study. We formed a Haitian team composed of a pediatrician on staff (RSF), two dedicated NBS nurses, a program coordinator (MV), two community health workers, a laboratory technician (RR), and a data manager (UL). We acquired isoelectric focusing equipment (IEF) and performed NBS from dried blood samples only for the first three months while the technician gained proficiency. Thereafter, we have performed dual screening method with the POC device Sickle SCAN and IEF. Confirmatory testing was obtained with both methods. Data were entered into RED Cap. Results: Beginning in August 2017 until present (June 2018), we have screened 1,800 newborns, of which 10.5% have sickle cell trait, 3.3% have hemoglobin C trait, 0.78% have hemoglobin SS, 0.27% have hemoglobin SC and one child has been confirmed to have sickle beta thalassemia plus. Currently, there are 15 children followed at HUJ, for a SCD incidence of 0.83% (8 SS, 6 SC and 1 S-beta thalassemia+). Before the POC screening was implemented two infants have already died when the mothers were contacted (one who screened positive for FS and another for FC). The POC allows for immediate referral and penicillin prophylaxis for at-risk children until the cases are confirmed. Systemic barriers encountered are the electrical outages and intense heat which impacted IEF performance, material procurement (laboratory materials, NBS materials, oral penicillin) which are dependent of shipments from outside of Haiti. Conclusions: A hospital-based NBS Program is feasible. SCD is highly prevalent with an incidence of 0.83% among newborns in the population studied. Based on this incidence, we estimate that every year around 2,000 children will be born with sickle cell disease in Haiti. The point-of-care device enhanced the screening program by obtaining immediate screening results and maximizing family notification for confirmatory testing. Disclosures No relevant conflicts of interest to declare.

scholarly journals Genetic Mutation of Hb E/beta Thalassemia Patient in Bangladesh and Its Relation With Clinical Severity

2021 ◽  
Author(s):  
Nishat Mahzabin ◽  
Md. Abdul Aziz ◽  
Md. Akhlak-Ul Islam ◽  
Nusrat Jahan ◽  
Md. Kamrul Hasan Sajib ◽  
...  
Keyword(s):  
High Performance ◽  
Mutational Analysis ◽  
Severe Disease ◽  
Genetic Mutation ◽  
Clinical Severity ◽  
Beta Thalassemia ◽  
Thalassemia Patient ◽  
Cross Sectional ◽  
Hemoglobin E ◽  
Hb E

Abstract Background: Hemoglobin E/β-thalassemia is a common inherited hemoglobin disorder among South Asian countries. The phenotypically diverse presentation of the disease is often attributed to coinheritance of β-globin (HBB) gene mutations. The current study described the phenotype and genetic basis of Hb E/β-thalassemia patients and assessed its relation with clinical severity.Methods: A total of 32 patients were included in this cross-sectional study. Cases were confirmed by using capillary hemoglobin electrophoresis or high-performance liquid chromatography. Those with positive findings were further analyzed with clinical information and ancestral data either from the interview or medical records. Data collection was confined to May 2019 and July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.Result: A total of 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (n=17, 53.1%) was the most common, and codon 30 (G>C) (n=4, 12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% (n=12) were classified as phenotypically mild, 43.8% (n=14) as moderate and 18.8% (n=6) as severe. The IVS-1-5(G>C) mutation was found to be frequently associated with severe disease and showed no mild form.Conclusion: The present study described the clinical severity and its association with genetic mutations in hemoglobin E/β-thalassemia patients. This finding could guide individually tailored management strategies for this particular group of patients.

scholarly journals Rapid procedure for globin chain analysis in blood samples of normal and beta-thalassemic fetuses

Blood ◽  
1981 ◽  
Vol 57 (2) ◽  
pp. 353-360 ◽  
Author(s):  
LF Congote
Keyword(s):  
High Pressure ◽  
First Trimester ◽  
Reversed Phase ◽  
Beta Thalassemia ◽  
Blood Samples ◽  
Globin Chains ◽  
Chain Analysis ◽  
Constant Rate ◽  
In Series ◽  
Human Blood Samples

Abstract Reversed-phase high pressure liquid chromatography (HPLC) was used for the separation of the alpha, beta, (A)gamma and (G)gamma chains from human blood samples. The alpha and beta chains were normally eluted close together, but their separation was improved by coupling 2 or 3 columns in series, or by increasing the temperature of the columns. This method has been applied for the determination of beta/gamma ratios in blood samples obtained at fetoscopy from normal pregnancies and fetuses at risk for beta-thalassemia. The values obtained by high pressure chromatography were similar but slightly lower than those found by carboxymethyl cellulose (CMC) chromatography. The average (G)gamma/(A)gamma ratio of the chains labeled after a 2-hr pulse with [3H] leucine was almost identical to the actual (G)gamma/(A)gamma measured by absorbance at 280 nm, indicating a constant rate of synthesis and accumulation of both globin chains in the first trimester fetus.

scholarly journals High Performance Liquid Chromatography (HPLC) Screening among Filipinos with Suspected Thalassemia

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Terence Diane F. Fabella ◽  
Catherine Lynn T. Silao ◽  
Maria Liza T. Naranjo ◽  
Carmencita D. Padilla ◽  
Ernesto DJ Yuson
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Ethylenediaminetetraacetic Acid ◽  
Clinical Manifestations ◽  
The Philippines ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Blood Samples ◽  
Hb E

Introduction. Thalassemias and hemoglobinopathies are autosomal-recessive red blood cell disorders affectinghemoglobin (Hb) quantity and/or quality. Clinical manifestations vary from clinically asymptomatic to transfusion dependent individuals. These disorders are global in scope and is prevalent in Southeast Asia hence screening in the Philippines is very crucial for its prevention and control.Objective. Our retrospective study aimed to determine the frequency of thalassemias and hemoglobinopathies in patients referred to the Molecular Genetics Unit, Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila for High Performance Liquid Chromatography (HPLC) screening.Methods. Blood samples from patients (n=622) sent by hematologists from different parts of the country from October 2008 to February 2015 were analyzed. Extracted whole blood samples from the subjects were anticoagulated with ethylenediaminetetraacetic acid (EDTA) and were analyzed using BIORAD VARIANT™ HPLC Testing System and VARIANT™ Beta Thalassemia Short (BTS) Program kit for the detection of abnormalities in hemoglobin. Interpretation of results were based on the submitted mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) values, and Hb typing via HPLC of the patients.Results. Approximately twenty-nine percent (29.10%, n=181) of subjects were presumptively identified with thalassemias and hemoglobinopathies by HPLC. Beta-thalassemia trait, Hb E trait, and beta-thalassemia/Hb E disease were detected in 65 (10.45 %), 14 (2.25 %), and 3 (0.48 %) subjects, respectively. While suspected alpha-thalassemia, presumably Hb H disease, was found in 99 (15.92 %) patients. Interestingly, seventy-two percent (72.11%, n=318) of the patients with normal Hb typing via HPLC have low MCV and MCH values.Conclusion. Results of this study provide the spectrum and frequency of thalassemias and hemoglobinopathies in patients referred to our laboratory for HPLC analysis.

scholarly journals Indices in differentiating iron deficiency anemia from thalassemia trait- a comparative study

2021 ◽  
Vol 12 (10) ◽  
pp. 81-86
Author(s):  
Sufia Ahmad ◽  
Noorin Zaidi ◽  
Syed Riaz Mehdi ◽  
Sumaiya Irfan ◽  
Sharique Ahmad
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Hypochromic Anemia ◽  
Bone Marrow Examination ◽  
Deficiency Anemia ◽  
Beta Thalassemia ◽  
Blood Samples ◽  
Biochemical Assays ◽  
Different Types ◽  
Thalassemia Trait

Background: Iron deficiency anemia (IDA) and beta thalassemia trait (BTT) are the two most common and important causes of microcytic hypochromic anemia in India. It is very difficult to differentiate between the two. Many different types of techniques have been proposed for the same. While some are invasive like bone marrow examination others are not available at all centers, like electrophoresis. Hence different indices come into play. Aims and Objective: This study was undertaken to compare the efficacy of Shine and Lal index and Mentzer index in differentiating between IDA and BTT. Materials and Methods: A total of 407 anemia cases were studied over a period of 18 months and their blood samples were subject to different hematological and biochemical assays to diagnose the type of anemia. Results: Based on these tests 92.1% cases were found to be of IDA whereas 3.7% cases were found to be of BTT. Then both the indices were applied in the above mentioned cases. Conclusion: While Shine and Lal index was found to have better sensitivity, Mentzer index was found to have better specificity.

scholarly journals Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Folia Medica ◽  
2021 ◽  
Vol 63 (5) ◽  
pp. 697-703
Author(s):  
Ergul Belge Kurutaş ◽  
Mehmet Emrah Aksan ◽  
Petek Curuk ◽  
Mehmet Akif Curuk
Keyword(s):  
Single Gene ◽  
University Hospital ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Thalassemic Patient ◽  
Blood Samples ◽  
System Method ◽  
Mutation System ◽  
Thalassemia Trait

Background: Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the “thalassemia belt” which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. Materials and Methods: In this study; 5 ml blood samples was taken from 14 thalassemic patients and their relatives who were taking care of Sutcu Imam University Hospital at Kahramanmaraş. Also, we collected blood samples from 245 adults for screening beta thalassemia trait. Haematological data were obtained by cell counter.  HbA2 was determined by HPLC. Ten common mutations were screened by ARMS  (Amplification Refractory Mutation System) method. These β-thalassemia mutations are -30 (T>A), Fsc8 (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 ( C>T), IVS2-1 (G>A), IVS 2-745 (C>G). A rare mutation; Fsc44 (-C) was charecterized by DNA sequencing. Results: Ten patients were detected as homozygous for IVS1-110 (seven cases), Fsc 44 (two cases) and IVS1-5 (only one case). Rest of the 4 patients were double heterozygous (two: IVS1-110/IVS1-6, one: Fsc8/Fsc8-9, one: IVS2-1/IVS1-5). In 245 adult, five  β-thalassemia trait were detected by screening survey.  Conclusion: Sixteen alleles were detected as IVS1-110 in 57.1%. It was seen the most common mutation in Kahramanmaraş. Seven different β-thalassemia mutations were found in this study. Each of 10 families have only one thalassemic patient, other two families have double thalassemic patient in total 12 family.

X-Linked Gray Platelet Syndrome Due to a GATA1 Arg216Gln Mutation.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 5-5 ◽  
Author(s):  
Venée N. Tubman ◽  
Jason E. Levine ◽  
Dean R. Campagna ◽  
Mark D. Fleming ◽  
Ellis J. Neufeld
Keyword(s):  
X Chromosome ◽  
Blood Smear ◽  
Pcr Amplification ◽  
Peripheral Blood Smear ◽  
Genetic Mutation ◽  
Beta Thalassemia ◽  
Common Haplotype ◽  
Obligate Carrier ◽  
Gray Platelet Syndrome ◽  
Chain Synthesis

Abstract Gray Platelet Syndrome (GPS) is characterized by a variable, mild bleeding diathesis, associated with thrombocytopenia and large, agranular, functionally abnormal platelets. While the disorder has been well-described both biochemically and pathologically, to our knowledge, no genetic mutation has been associated with the disease. Most cases are sporadic, with a few sibships and apparent autosomal kindreds reported. In our investigation, the proband is a healthy 1 year-old female whose father and uncle had recently been diagnosed with GPS. The child had a platelet count of 382 x103 platelets/μl, comprised of a dimorphic population of normal and large, agranular forms. Her CBC and peripheral blood smear were otherwise unremarkable. We subsequently analyzed four generations of this family. In addition to the proband’s father and uncle, several other members had known bleeding tendencies. The symptomatic individuals were invariably males, consistent with a sex-linked pattern of inheritance. Several symptomatic and asymptomatic family members were evaluated by CBC and blood smear. Large, agranular platelets were found in symptomatic males, while obligate carrier females exhibited both normal and abnormal forms. Using a set of fifteen microsatellite markers spanning the X chromosome, a common haplotype was identified in all affected men, their mothers, and their daughters. Aided by the published sequence of the X chromosome, we examined this region for candidate genes. Although the common haplotype between markers GATA144D04 and DXS6797 (Xp11.3-Xq22.3) contains hundreds of genes, only two, GATA1 and WAS, have known associations with thrombocytopenia. PCR amplification and sequencing of a 3′ segment of the GATA-1 promoter and the five coding exons of the GATA-1 gene revealed an G759A missense mutation resulting in an Arg216Gln substitution in exon 4 (NCBI RefSeq: NM_002049) that segregated with the phenotype and was present in all obligate carrier females. This mutation has been previously associated with X-linked thrombocytopenia and beta-thalassemia (XLTT), a syndrome characterized by splenomegaly, thrombocytopenia, and imbalanced globin chain synthesis (Balduini et al, Thromb Haemost. 2004; 91:129). Comparison of the ultrastructural characteristics of the platelets in both disorders and a review of literature on both diseases suggests that XLTT, and the associated mutation in GATA1, could represent one genetic origin for GPS. As carrier females generally display a less severe phenotype than affected males, without thrombocytopenia and with subtle dimorphism on smears, it is possible that this mutation may account for some previously reported “sporadic” cases of GPS.

scholarly journals Rapid procedure for globin chain analysis in blood samples of normal and beta-thalassemic fetuses

Blood ◽  
1981 ◽  
Vol 57 (2) ◽  
pp. 353-360
Author(s):  
LF Congote
Keyword(s):  
High Pressure ◽  
First Trimester ◽  
Reversed Phase ◽  
Beta Thalassemia ◽  
Blood Samples ◽  
Globin Chains ◽  
Chain Analysis ◽  
Constant Rate ◽  
In Series ◽  
Human Blood Samples

Reversed-phase high pressure liquid chromatography (HPLC) was used for the separation of the alpha, beta, (A)gamma and (G)gamma chains from human blood samples. The alpha and beta chains were normally eluted close together, but their separation was improved by coupling 2 or 3 columns in series, or by increasing the temperature of the columns. This method has been applied for the determination of beta/gamma ratios in blood samples obtained at fetoscopy from normal pregnancies and fetuses at risk for beta-thalassemia. The values obtained by high pressure chromatography were similar but slightly lower than those found by carboxymethyl cellulose (CMC) chromatography. The average (G)gamma/(A)gamma ratio of the chains labeled after a 2-hr pulse with [3H] leucine was almost identical to the actual (G)gamma/(A)gamma measured by absorbance at 280 nm, indicating a constant rate of synthesis and accumulation of both globin chains in the first trimester fetus.

scholarly journals Identification and quantification of hemoglobins A, F, S, and C by automated chromatography

1996 ◽  
Vol 42 (1) ◽  
pp. 57-63 ◽  
Author(s):  
C Papadea ◽  
J C Cate
Keyword(s):  
Patient Population ◽  
Population Studies ◽  
Beta Thalassemia ◽  
Testing System ◽  
Traditional Methods ◽  
Blood Samples ◽  
Satisfactory Performance ◽  
Short Program ◽  
Automated Hplc ◽  
Clinically Significant

Abstract The Bio-Rad Variant Hemoglobin Testing System is an automated HPLC analyzer marketed with a Beta-thalassemia Short Program to quantify hemoglobins (Hbs) F and A2 and assist in detecting Hbs A, S, C, D, and E. We evaluated this system to replace several traditional methods for Hb in our hospital laboratory. Analytical performance relevant to quantifying Hbs A, S, C, and F was assessed with blood samples obtained from our local patient population. Studies of precision (CVs < 3%) and analytical limits (% of total Hb) of Hbs A (2-86%), F (1-89%), S (5-90%), and C (3-92%) demonstrated results comparable with or exceeding those of traditional methods. Results for patients' samples (n) for Hbs A (107), F (157), S (128), and C (27) correlated well (r > 0.93) with results by traditional methods. The satisfactory performance and efficiency led us to implement this system for routine quantification of clinically significant Hbs.

scholarly journals Blood group genotyping in multi-transfused patients

2021 ◽  
Vol 102 (5) ◽  
pp. 621-625
Author(s):  
N V Mineeva ◽  
I I Krobinets ◽  
S V Gavrovskaya ◽  
N N Bodrova ◽  
E A Sisoeva ◽  
...  
Keyword(s):  
Blood Group ◽  
Blood Cells ◽  
Myeloid Leukemia ◽  
Molecular Genetic ◽  
Primary Myelofibrosis ◽  
Beta Thalassemia ◽  
Blood Samples ◽  
Genetic Typing ◽  
Serological Typing ◽  
Hodgkin's Lymphomas

Aim. To assess the possibility of using blood group genotyping in recipients who received transfusions for 3 months. Methods. The study included blood samples from 95 patients who received 3 or more erythrocyte transfusions within 3 months. The patients had the following diagnoses: multiple myeloma (n=7), beta thalassemia (n=4), non-Hodgkin's lymphomas (n=11), chronic myeloid leukemia (n=16), primary myelofibrosis (n=9), myelodysplastic syndrome (n=22), acute leukemia (n=21), aplastic anemia (n=5). Red blood cells phenotyping was performed in Diaclon Rh Subgroups+K Gel Cards. The Rh and Kell genotyping was performed by using RBC SSP-PCR kits FluoGene vERYfy (Inno-train Diagnostics, Germany). The standard RHD/RHCE alleles, as well as polymorphisms associated with KEL1/KEL2 [T698C (Met198Thr)] of the KEL gene were genotyped. Results. The concordance rate between serological and molecular genetic typing of RhCE and Kell blood groups for donors was 100%, while the patients results were discordant in 45.3% of cases. Discrepancies in antigens of the Rh system were registered in 41 patients: one antigen of the Rh system in 30 patients, two in 9 patients. Ten patients who had been previously phenotyped as RhCc were genotyped as RHCE*CC. 2 patients who had been previously phenotyped as Rhee were genotyped as RHCE*EE. In 2 patients, antigens D and C were not detected in the phenotype but were identified in the genotype. Discrepancies in antigen K were recorded in 2 patients, and the antigen was absent in the phenotype but was present in the genotype. The genotyping results were confirmed by serological typing at subsequent hospitalizations. Сonclusion. Blood group genotyping is a useful adjunct to traditional methods when serological typing is limited.

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