Rapid Detection of β-Thalassemia Alleles in Egypt Using Naturally or Amplified Created Restriction Sites and Direct Sequencing: A Step in Disease Control

Hussein, Gehan; Fawzy, Manal S.; Serafi, Taher El; Ismail, Emad F; El-Metwally, Dina; Saber, Mohamed; Giansily, Muriel; Schved, Jean‐François; Pissard, Serge; Martínez, Patricia

doi:10.1080/03630260601057088

Cited by 33 publications

(14 citation statements)

References 12 publications

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“…Considering demographic data, clinical features, and laboratory data of the present study, it was in agreement with the data published by Hussein et al [2], Galanello and Origa [15], Kattamis [16], Thein and Rees [17], Soliman et al [18], Rahim et al [19], Mosca et al [20], and ElShanshory et al [21].…”

Section: Resultssupporting

confidence: 92%

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Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations

EL-Fadaly

Abd-Elhameed

Abd-Elbar

et al. 2015

Indian J Hematol Blood Transfus

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Prevention programs for b-thalassemia based on molecular diagnosis of heterozygous carriers and/or patients require the use of reliable mutation screening methods. The aim of this study was to compare between direct DNA sequencing, and reverse dot-blot PCR in detection of different b-globin gene mutations in Egyptian children with b-thalassemia. Forty children with b-thalassemia were subjected to mutation analysis, performed by both direct DNA sequencing and b-globin , and cd39 C[T (2.5 %)'', While the genotypes of three patients (6 alleles 7.5 %) were not detected by reverse dot-blot PCR. Mutant alleles detected by direct DNA sequencing were the same as reverse dot-blot PCR method except it revealed the genotypes of 3 undetected patients (one patient was homozygous IVSI-110 G[A, and two patients were homozygous IVS I-1 G[A. Sensitivity of the reverse dot-blot PCR was 92.5 % when compared to direct DNA sequencing for detecting b-thalassemia mutations. Our results therefore suggest that, direct DNA sequencing may be preferred over reverse dot-blot PCR in critical diagnostic situations like genetic counseling for prenatal diagnosis.

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Section: Resultssupporting

confidence: 92%

“…It has been estimated that 1000 children out of the 1.5 million live births are born annually with b-thalassemia major [2].…”

Section: Introductionmentioning

confidence: 99%

Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations

EL-Fadaly

Abd-Elhameed

Abd-Elbar

et al. 2015

Indian J Hematol Blood Transfus

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“…Several Mediterranean and western countries have achieved a significant change in the homozygote population since the last two decades. [15] Other countries which also have Thalassemia Control Programs include Canada,[16] Israel,[17] Turkey,[18] Thailand,[19] Lebanon,[20] West Bank and Gaza Strip,[21] Malaysia,[22] China,[23] Iran,[24] Egypt,[25] and Pakistan. [14] In India, some screening and few antenatal programs[26–32] are also effective.…”

Section: Discussionmentioning

confidence: 99%

Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India

et al. 2010

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INTRODUCTION:India is an ethnically diverse country with an approximate population of 1.2 billion. The frequency of beta-thalassemia trait (βTT) has variously been reported from <1% to 17% and an average of 3.3%. Most of these studies have been carried out on small population groups and some have been based on hospital-based patients. There is also a variation in the prevalence of hemoglobinopathies in different regions and population groups in the country. A high frequency of Hb D has been reported from the North in the Punjabi population, Hb E in the eastern region of India and Hb S is mainly reported from populations of tribal origin from different parts of the country.OBJECTIVES:To study the gene frequency of βTT and other hemoglobinopathies in three regions East (Kolkata), West (Mumbai) and North (Delhi) in larghe population group (schoolchildren) for a more accurate assessment of gene frequency for planning of control programmes for haemoglobinopathies.MATERIALS AND METHODS:This study included 5408 children from 11 schools in Delhi, 5682 from 75 schools in Mumbai and 957 schoolchildren from Kolkata who were screened for βTT and haemoglobinopathies. These included 5684 children from 75 schools in Mumbai and 5408 children from 11 schools in Delhi. Children were 11-18 years of age of both sexes. The final report is, however, only on 11090 schoolchildren from Mumbai and Delhi as data from Kolkata was restricted both in numbers and objectives and could not be included for comparison.RESULTS:The overall gene frequency of βTT in Mumbai and Delhi was 4.05% being 2.68% and 5.47% in children of the two cities respectively. In Mumbai, the gene frequency was evenly distributed. Majority of the children with βTT from Mumbai were from Marathi (38.9%) and Gujarati (25%) speaking groups. Gene frequency was >5% in Bhatias, Khatris, Lohanas and Schedule Castes. In Delhi, a higher incidence was observed in schoolchildren of North and West Delhi (5.8-9.2%). The schoolchildren of North and West Delhi comprised predominantly of Punjabi origin compared to children in the South of the city (2.2%, 2.3%). When analyzed state-wise, the highest incidence was observed in children of Punjabi origin (7.6%) and was >4% from several other states. Majority of the traits from Mumbai were anemic (95.1% male and 85.6% in female). The prevalence of anemia was lower (62.7% male and 58.4% female) children with βTT from Delhi. This was a reflection of the higher prevalence of anemia in children without hemoglobinopathy in Mumbai than in Delhi. Nutritional deficiency was probably more severe and rampant in children Mumbai. Gene frequency of Hb D was greater in schoolchildren from Delhi (1.1%) than in Mumbai (0.7%). Hb S trait (0.2%) was observed exclusively in children from Mumbai. A low incidence of Hb E trait (0.04%) was seen in children in Mumbai. A higher incidence is reported from the East. The number of cases studied from the eastern region was small as the data from the East (Kolkata) could not be included in the analysis.CONCLUSION:This stu...

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“…Beta-thalassemia represents the commonest cause of hemolytic anemia in Egypt with carrier rate ranges from 9–10% [1]. Beta- thalassemia major (B-TM) patients usually present within the first two years of life with severe anemia requiring regular red blood cell transfusions [2].…”

Section: Introductionmentioning

confidence: 99%

Premature atherosclerosis in children with beta-thalassemia major: New diagnostic marker

et al. 2017

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BackgroundEarly vascular alteration, atherosclerosis and coronary artery disease have emerged as important cardiovascular complications among beta-thalassemia major (B-TM) patients. The aims of the current study were to assess the prevalence of premature atherosclerosis among our B-TM patients, and to investigate the diagnostic value of serum Osteoprotegerin assay as an early biomarker for atherosclerosis.MethodsThis cross-sectional study was conducted at Hematology unit - Pediatric Department, Zagazig University Children Hospital- Egypt in the period from March 2014 to March 2015. A total of 115 children were enrolled in the current study; as sixty-five (65) children with beta thalassemia major aged 5–18 years, on regular blood transfusion regimen represented the patient group. While fifty (50) healthy children, with comparable age and gender, were assigned as control group. All participants were subjected to history taking, thorough clinical examination and laboratory investigations including; complete blood count, liver and kidney function tests, C- reactive protein, lipid profile, serum ferritin and serum Osteoprotegerin (OPG) assay. Also, carotid artery intima media thickness (CAIMT) was performed by duplex ultrasound for patients and controls.ResultsOur B-TM patients were transfusion-dependent for as long as 8.5 ± 3.8 years with significantly higher serum ferritin levels (2490 ± 1579 ng/dl vs 83 ± 32 ng/dl, p = 0.001), C-reactive protein (5.7 ± 5.7 vs 0.9 ± 0.9), liver enzymes and bilirubin when compared to controls. Significantly higher serum triglyceride (128 ± 20 vs 101 ± 7 mg/dL, p = 0.009) and atherogenic index of plasma (0.45 ± 0.12 vs 0.22 ± 0.04, p = 0.001) were recorded in patients than comparisons. On the contrary, total serum cholesterol (116 ± 16 vs 143 ± 5, p < 0.001), low density lipoprotein-cholesterol (LDL-C) (44 ± 9 vs 73 ± 6, p < 0.001) and high density lipoprotein cholesterol (HDL-C) (39 ± 2 vs 61 ± 5, p < 0.001), were significantly lowered in patients versus normal peers. Carotid arteries intima media thickness (CAIMT) of both side were significantly increased for patients (Rt 0.62 ± 0.2 vs. 0.29 ± 0.07 mm, p = 0.001 & Lt 0.66 ± 0.17 vs 0.29 ± 0.05 mm, p = 0.001) when compared with healthy controls, and showed positive correlation with, serum triglyceride, atherogenic index of plasma, and serum Osteoprotegerin levels. ELISA assay of serum Osteoprotegerin (OPG) revealed significantly higher levels for thalassemia patients than matched healthy controls (427 ± 102 vs. 324 ± 126 pg/ml, p = 0.02). Of particular interest is the obvious positive correlation between OPG levels and CAIMT of both sides (Rt r 0.54, p = 0.001 &Lt r 0.479, p = 0.001) and also with serum triglycerides (r 0.374, p = 0.03).ConclusionsSubclinical atherosclerosis started prematurely in children with beta- thalassemia. Carotid artery intima media thickness represented a simple, accurate and non-invasivemodality for early detection ofatherosclerosis. It was correlated well with serum Osteoprotegerin; this finding highlighte...

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Rapid Detection of β-Thalassemia Alleles in Egypt Using Naturally or Amplified Created Restriction Sites and Direct Sequencing: A Step in Disease Control

Cited by 33 publications

References 12 publications

Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations

Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations

Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India

Premature atherosclerosis in children with beta-thalassemia major: New diagnostic marker

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