scholarly journals Analysis of beta globin gene mutations in Diyarbakir

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Selahaddin Tekeş ◽  
Diclehan Oral ◽  
Murat Söker ◽  
Selda Şimşek ◽  
Veysiye Hülya Uzel ◽  
...  
Keyword(s):  
Globin Gene ◽  
Molecular Genetic ◽  
Point Mutations ◽  
Gene Mutations ◽  
Turkish Population ◽  
University Hospital ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Compound Heterozygous ◽  
Common Mutation

Abstract Objectives Hemoglobin disorders are quite heterogeneous in the Turkish population. Up to now, more than forty different beta thalassemia mutations and 60 hemoglobin variants have been characterized in the country. The aim of this study was to investigate genetic heterogeneity of HBB gene mutations in patients and their parents at Southeastern Anatolia in Turkey. Methods Genomic DNA was isolated from 145 thalassemic patients’ blood samples and their parents in this study. Ten different HBB gene mutations HBB:c.-80T>A, HBB:c.17_18delCT, HBB:c.25_26delAA, HBB:c.92+1G>A, HBB:c.92+5G>C, HBB:c.92+6T>C, HBB:c.93-21G>A, HBB:c.135delC, HBB:c.315+1G>A, HBB:c.316-106C>G were screened by amplification refractory mutation system. Four Hb variants and some rare beta thalassemia mutation were characterized by DNA sequencing. Results In this study, 97 homozygous and 48 compound heterozygous thalassemic patients were diagnosed by molecular genetic analyses. As a results, 18 β-thalassemia mutations and four abnormal hemoglobins; HBB:c.20A>T, HBB:c.364G>C, HBB:c.34G>A and HBB:c.208G>A were detected at Dicle University Hospital. Conclusions In the results, HBB:c.93-21G>A is the most common mutation in the region. Three mutations [(HBB:c.93-21G>A), (HBB:c.25_26delAA) and (HBB:c.135delC)] account for about 58 per cent of all the point mutations. Except HBB:c.20A>T and HBB:c.364G>C, two silent Hb variants (HBB:c.34G>A and HBB:c.208G>A) were detected in this study. Hb Hamilton [β11 (GTT>ATT) Val>Ile] was seen first time in Turkey.

The Spectrum of δ-Thalassemia in the Western Sicily.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3824-3824
Author(s):  
Aurelio Maggio ◽  
Cristina Passarello ◽  
Gaetano Ruggeri ◽  
Pietro Teresi ◽  
Maurizio Anzà ◽  
...  
Keyword(s):  
Globin Gene ◽  
Point Mutations ◽  
Gene Mutations ◽  
Common Mutation ◽  
Gene Variants ◽  
Three Samples ◽  
Western Sicily ◽  
Gene Defects ◽  
Correct Estimation ◽  
Sicilian Population

Abstract The detection of β-thalassemia carriers is based on the correct estimation of HbA2 values.The diagnosis of β-thalassemia carriers may be more complicated in presence of δ-thalassemia because the interaction between δ and β-globin gene defects modifies the HbA2 values. For this reason, we studied the spectrum of δ-globin gene mutations present in the Sicilian population, characterized by its very high heterogeneity in β-thalassemia genotype and phenotype. The samples were selected by screening and routine prenatal diagnoses counseling for thalassemia. Among 7153 samples studied for β-thalassemia, 205 samples were selected for HbA2 levels ranging from 0.5% to 2.0% and normal haematology parameters, suspected of being δ-thal carriers in the absence of α and β-thalassemia or hemoglobin variants, and for HbA2 levels from 2.1% to 4.6% in subjects suspected of compound heterozygotes for δ and β-thalassemia and between 1.4% and 2.0% for δ and α-thalassemia. We have considered the value of 2% as the treshold between normal and d-carrier subjects. One-hundred-eighty-three samples showed to be positive for δ-globin gene mutations.Twelve mutations were detected and among these five were new δ-globin gene defects (HbA2-Catania, HbA2-Corleone, HbA2-Ventimiglia; HbA2-Montechiaro and HbA2-Bagheria) determining δ-globin gene variants and seven were already described mutations. Among these six of them were point mutations (HbA2-Mitsero, HbA2-NYU,HbA2-Yialousa, HbA2-Coburg, HbA2-Fitzroy) and one a 7.2 Kb deletion mutation known as the δ-Corfù type, HBD g.5946_1262del. As it was previously shown in Sicily for β-thalassemia, only three mutations account for 91% (HbA2-Yialousa, HbA2-NYU, IVS II-3′ A→G) of the overall δ-globin gene defects. HbA2-Yialousa (g.82G→T) is the most common mutation found in Sicilian population (81%) while the other eleven mutations are less frequent between 0.5 to 5.5%. These findings suggest that in Sicily δ-thalassemia is very common (2.5%) and as it was described, previously, for the β-thalassemia mutations,this also is very heterogeneous (twelve mutations). This information is noteworthy considering the implication that the interaction between β and δ-thalassemia could determine in terms of HbA2 decrease in subjects heterozygotes for β-thalassemia. HbA2 levels in δ-thalassemia and δ globin gene variants with and without interaction with α or β-globin gene mutations. The δ-alleles are all in heterozygote state except three cases with homozygosis. βA/βA αα/αα Gγ-158/Gγ 1.1 1 βA/βA αα/αα 1.7±0.2 113 βA/βA αα/αα 2.1±0.1 4 βA/βA αα/αα 0.7±0.1 3 βA/β(IVS1,110) αα/αα 3.35±0.15 2 βA/β(cd39) αα/αα 3.5 1 Hb A2-Yialousa βA/β(IVS1,1) αα/αα 3.5 1 βA/β(−87G) αα/αα 4.6 1 βA/β(−101) αα/αα 2.8 1 βA/β(IVS1,6) αα/αα 3.0±0.2 4 βA/βS αα/αα 2.7±0.1 5 βA/βA α−3.7α/αα 1.8±0.2 5 βA/βA α−20.5α/αα 1.4±0.1 2 βA/βA α−Medα/αα 1.6±0.1 2 βA/βA αNcoIα/αα 1.7±0.2 2 βA/βA αHphIα/αα 1.7±0.2 2 Hb A2-NYU βA/βA αα/αα 1.5±0.2 9 βA/β(Valletta) α−3.7α/αα 1.6 1 Hb A2-Mitsero βA/βA αα/αα 1.9±0.2 3 βA/βA α−3.7α/αα 1.6 1 Hb A2-Coburg βA/βA αα/αα 1 1 Hb A2-Fitzroy βA/βA αα/αα 1.4±0.2 3 Hb A2-Catania βA/βA αα/αα 1.2 1 Hb A2-Corleone βA/βA αα/αα 1.6 1 Hb A2-Ventimiglia βA/βA αα/αα 2 1 Hb A2-Montechiaro βA/βA αα/αα 1.3 1 Hb A2-Bagheria βA/βA αα/αα 1.7 1 7.2 Kb deletion βA/βA αα/αα 1.4±0.1 3 βA/βA αα/αα 1.5±0.2 4 IVS II-3′ βA/β(IVS1,110) αα/αα 3.3±0.2 3 βA/β αα/ααα 2.5 1 GENOTYPE δ GENOTYPEβ GENOTYPEα GENOTYPEγ HbA2% N° OF δ CARRIERS

First observation of hemoglobin G-Norfolk in the Turkish population

2020 ◽  
Vol 46 (1) ◽  
pp. 97-102 ◽  
Author(s):  
Hülya Ünal ◽  
Aysenur Atay ◽  
Muammer Yücel ◽  
Figen Narin ◽  
Serdar Ceylaner ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
High Performance ◽  
Globin Gene ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Turkish Population ◽  
Clinical Findings ◽  
Beta Globin ◽  
Globin Chains ◽  
First Case

Abstract Objectives Hemoglobinopathies are inherited transition blood diseases associated with globin chains of the hemoglobin. However many mutations have been defined, there may be many of them not defined yet. We here report the first case of those mutations, named Hb G-Norfolk in Turkey. Case presentation A 15 years-old male patient with erythrocytosis was referred to our laboratory for the evaluation of hemoglobinopathy. In chromatographic analysis, an unidentified peak was observed. A similar identification for variant Hb could not be obtained from High-Performance Liquid Chromatography (HPLC) analyzer’s data library. No definitive diagnosis could also be made by different analyzer. Family screening and molecular genetic DNA sequence analysis were carried out. Conclusions Although there were not found any beta gene mutation of neither the patient nor his family, analyses of alpha genes A1 and A2 were performed and abnormal hemoglobines were detected for all of them. This change in the HbA2 gene was at codon85 GAC>AAC (Asp>Asn) in the heterozygous state, known as Hb G-Norfolk [HbA2:c256G>A p.Asp85Asn] based on HbVar database. Abnormal Hb bands detected by HPLC with clinical findings such as erythrocytosis or cyanosis should be investigated by sequence analysis to corroborate alpha and/or beta-globin gene mutations for avoiding misdiagnosis and misinterpretation.

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.

Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major

2019 ◽  
Vol 44 (2) ◽  
pp. 126-129
Author(s):  
Hatice Çevirici ◽  
Can Acıpayam ◽  
Ebru Dündar Yenilmez ◽  
Fatma Burcu Belen ◽  
Esra Pekpak ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Beta Thalassemia Major ◽  
Mutation System

Abstract Objectives This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaraş region were planned. Materials and methods The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n=8). Other mutations are according to frequency order IVS-II-745 (n=3), codon 44 (n=3), codon 15 (n=3), IVS-I-110/IVS-I-1 (n=3), codon 5 (n=2), IVS-I-1 (n=2), codon 8/IVS-II-1 (n=2), codon 44/codon 15 (n=2), IVS-II-1 (n=1), codon 39 (n=1), IVS-I-6/codon 5 (n=1), codon 9/10 (n=1), IVS-I-110/codon 39 (n=1), IVS-I-5/IVS-II-1 (n=1), codon 39/IVS-II-745 (n=1). Conclusions According to the results of our study beta-thalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling.

Spectrum of Genetic Mutation in Beta Globin Gene in Various Type of Thalassaemia in Bangladesh

2021 ◽  
Vol 5 (02) ◽  
pp. 57-60
Author(s):  
Nishat Mahzabin ◽  
Md. Akhlak-Ul- Islam ◽  
Kazi Mohammad Kamrul Islam ◽  
Khaza Amirul Islam ◽  
Md. Arif-Ur- Rahman ◽  
...  
Keyword(s):  
Globin Gene ◽  
Phenotypic Expression ◽  
Gene Mutations ◽  
Cross Sectional Study ◽  
Genetic Mutation ◽  
Compound Heterozygous ◽  
Cross Sectional ◽  
Beta Thalassaemia ◽  
Hb E ◽  
Beta Gene

Background: Hb-E/Beta thalassaemia is a congenital haemoglobin disorder which is a compound heterozygous state consists of qualitative disorder like Hb E variant & quantitative Hb disorder caused by genetic mutation of Beta chain. Objective: The aim of the study was to identify the beta gene mutation in Hb E/Beta thalassaemia. Method: A total of 32 diagnosed Hb E/Beta thalassaemia patients were included in this cross-sectional study from May 2019 to July 2020. Genetic analysis was done by sanger sequencing. Results: In this observational study, we found 13 different types of Beta gene mutations. Heterozygous for IVS 1-5(G>C) mutation was most frequent (53.1%). Conclusion: Genetic mutation is the confirmatory diagnosis for thalassaemia as well as one of the main factors for clinical expression. Mutation pattern also varies according to the geographical distribution. So, this study shows the frequently found mutation in Bangladesh and should carry out routinely to point out phenotypic expression.

scholarly journals Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq

2020 ◽  
Vol 2020 ◽  
pp. 1-11 ◽  
Author(s):  
Shaema Salih Amin ◽  
Sana Dlawar Jalal ◽  
Kosar Muhammed Ali ◽  
Ali Ibrahim Mohammed ◽  
Luqman Khalid Rasool ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Beta Thalassemia ◽  
Abnormal Liver Function Test ◽  
Hybridization Technique ◽  
Genetic Modifiers ◽  
Thalassemia Intermedia ◽  
Female Sex ◽  
Increased Risk ◽  
Thalassemia Mutation

Objective. To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (β-TI) patients in Sulaymaniyah province, northeastern Iraq. Methods. A total of 159 β-TI patients from 114 families were enrolled. Detection of β-thalassemia mutations was done by reverse hybridization technique and direct gene sequencing. Also, the clinical and hematological data were collected through an electronic-based medical recording system using a designed comprehensive questionnaire. Results. Nineteen different β-globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age≥35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 μg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. Discussion and Conclusion. β+-thalassemia mutation had contributed to 41.25 of families with a less severe β-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of β-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.

scholarly journals BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY

2013 ◽  
Vol 5 (1) ◽  
pp. e2013055 ◽  
Author(s):  
Ali Fettah ◽  
Cengiz Bayram ◽  
Nese Yarali ◽  
Pamir Isik ◽  
Abdurrahman Kara ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Thalassemia Intermedia ◽  
Turkish Children ◽  
Tertiary Center

Introduction: The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. Materials and Methods: 106 pediatric patients were analysed for β-globin gene mutations by using DNA analysis. Patients were classified as having β-thalassemia major or β-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions. Results: There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 – 22.3 years). Eighty-four (79.2%) patients had β-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having β-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (-CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of β-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del –AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41-42 (-CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(-C) (14.3%), and IVS II.745 (C>G)/ 5’UTR + 22 (G>A) (9.5%). Conclusion: Our hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole.

scholarly journals A novel basis for delta beta-thalassemia in a Chinese family

Blood ◽  
1986 ◽  
Vol 68 (5) ◽  
pp. 1108-1113 ◽  
Author(s):  
GF Atweh ◽  
DE Zhu ◽  
BG Forget
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Beta Thalassemia ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Beta Globin ◽  
Hemoglobin F ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Alpha Beta

Abstract We have studied a Chinese family in which beta-thalassemia and delta beta-thalassemia were found in simple and compound heterozygous states. The delta beta-thalassemia heterozygote (the mother) had 22.3% hemoglobin F, of which 40% was G gamma and 60% A gamma; globin chain studies showed an alpha/beta + gamma ratio of 1.36. The compound heterozygote for delta beta-thalassemia and beta-thalassemia (the child) had the clinical picture of thalassemia intermedia and an alpha/beta + gamma ratio of 4.44. Gene mapping studies were performed using DNA from the affected child. Seventy kilobases of DNA in the beta- globin gene cluster starting upstream from the epsilon-globin gene and ending downstream from the beta-globin gene were mapped, and no detectable deletions or rearrangements were detected. In addition, heterozygosity was detected at multiple polymorphic restriction sites in and 3′ to the beta-globin gene, which excludes the possibility of a deletion of the entire beta-globin gene cluster. This is the first example of a nondeletion delta beta-thalassemia associated with increased expression of both G gamma and A gamma genes.

scholarly journals Beta-Thalassemia in Iran: New Insight into the Role of Genetic Admixture and Migration

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Ali Reza Rezaee ◽  
Mohammad Mehdi Banoei ◽  
Elham Khalili ◽  
Massoud Houshmand
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Genetic Admixture ◽  
Beta Thalassemia ◽  
The Caspian Sea ◽  
Genetic Classification ◽  
And Migration ◽  
The Persian Gulf

Iran with an area of 1.648 million km2is located between the Caspian Sea and the Persian Gulf. The Iranian population consists of multiethnic groups that have been influenced by various invasions and migration throughout history. Studies have revealed the presence of more than 47 differentβ-globin gene mutations responsible forβ-Thalassemia in Iran. This paper is an attempt to study the origin ofβ-Thalassemia mutations in different parts of Iran. Distribution ofβ-Thalassemia mutations in Iran shows different patterns in different areas.β-Thalassemia mutations have been a reflection of people and area in correlation with migration and origin of ancestors. We compared the frequencies ofβ-globin mutations in different regions of Iran with those derived from neighboring countries. The analysis provided evidence of complementary information about the genetic admixture and migration of some mutations, as well as the remarkable genetic classification of the Iranian people and ethnic groups.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population 

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

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