Detection Of Sickle Cell Anaemia Research Articles

Optimal feature selection and detection of sickle cell anemia detection using enhanced whale optimization with clustering based boosted C5.0 algorithm for tribes of Nilgiris

Degradation of red blood cells (RBC) causes many diseases, like sickle cell anemia. Diagnosing this disease takes more time because peripheral blood samples must be examined under the microscope. Since the isolated RBC observation is subjective and high error rate leads to reduce the accuracy, the technology is needed to perform this approach. To fulfil these requirements, optimal feature selection and detection of sickle cell anemia using enhanced whale optimization with clustering based boosted C5.0 algorithm in tribes of Nilgiris is proposed in this manuscript. The input dataset is taken from real data set via non-government organization named NAWA (situated in Kotagiri). The reason behind of Nilgiri region is considered in this work is a collection of sickle cell anemia test results of the tribe people who lives in different areas of Nilgiri region. These images are pre-processed using wavelet packet transform cochlear filter bank method to eradicate the noises and to improve the superiority of image. After that, the features are extracted using force-invariant improved feature extraction method. To select the optimal features, enhanced whale optimization (EWO) algorithm is used. These optimal features are classified utilizing clustering based boosted C5.0 algorithm. The proposed method is activated on PYTHON. The proposed method shows 52.32%, 43.78%, 32.78% and 45.90% higher accuracy compared with the existing methods, such as RGSA-MLP-SCA, CRFA-SVM-SCA, AO-LSTM-SCA and BOA-CNN-SCA.

Machine Learning Techniques for Automatic Detection of Sickle Cell Anemia using Adaptive Thresholding and Contour-based Segmentation Method

Automatic diagnosis of diseases in the medical field using image processing techniques has evolved tremendously in recent times. Sickle cell anemia (SCA) is a kind of disease connected with red blood cells (RBCs) present in the human body in which deformation of cells take place. The purpose of this work is to propose an automatic image processing technique for the detection of this disease from microscopic blood images. This paper mainly focuses on automatic detection of SCA using a novel segmentation method encompassing local adaptive thresholding and active contour-based algorithm. For the detection of sickle cells, supervised classifiers such as Artificial Neural Network (ANN) and Support Vector Machine (SVM) are used. Here, geometric features of healthy and unhealthy RBCs are calculated and applied to these classifiers. In this approach, performance is found slightly greater in SVM classifier than the ANN classifier trained with scaled conjugate gradient back-propagation (BP) algorithm and with hidden layer of ten neurons. The proposed approach achieves a maximum of 99.2% accuracy with SVM classifier. The performance is also studied for seven different training algorithms in the ANN classifier by varying the numbers of hidden layer neurons. Comparative analysis of the performances of these algorithms shows that, resilient BP algorithm and 10 numbers of hidden neurons gave moderately better performance in ANN with 99% accuracy. ANN and SVM classifier with adaptive thresholding and active contour technique is an efficient approach for the classification of patients with SCA.

Si/SiO2 Based Nano-cavity Biosensor for Detection of Anemia, HIV and Cholesterol Using Refractive Index of Blood Sample

Objectives: To model photonic multipurpose biosensor for detection of sickle cell anemia, HIV and cholesterol by its refractive index using FDTD method. Methods: The proposed multipurpose photonic biosensor has 12mm X 08mm dimension designed using Lumerical software. Blood sample is deposited inside the hole cavity of sensor and gaussian light source of 1.5 – 1.6 mm wavelength is injected inside the waveguide, based on the refractive index of disease sample to the normal sample there will be shift in the wavelength. FDTD method is used for simulating the PhC silicon sensor. When body gets infected there will be changes in physical as well as biological composition results in disparity of refractive index of biological component. Resonating frequency will be displayed in DFT monitor at the output waveguide. Findings: Based on the RI value the resonating wavelength shifts inside the bandgap of frequency spectrum. By comparing with the normal value there is shift in wavelength of 03nm, 08nm and 22nm for anemia, HIV and Cholesterol respectively. Biosensor has Quality factor of 257, tolerance factor 3% and the sensitivity obtained for change in RI of the sample is 225 nm/RIU. Novelty: The proposed biosensor functions as multipurpose detector and design is compatible in detecting anemia, HIV and Cholesterol in photonics platform. Novel signature analysis is performed by using polar plot for distinguishing the disease in early stage. Keywords: Photonic Crystal; Refractive index; Red blood corpuscles; Human immunodeficiency virus; Finite difference time domain; Photonic bandgap

An algorithm to detect overlapping red blood cells for sickle cell disease diagnosis

In Africa, Uganda is among the countries with a high number of babies (20,000 babies) born with sickle cell, contributing between 6.8% of the children born with sickle cell every year worldwide and approximately 4.5% of the children born with hemoglobinopathies worldwide. It is estimated that by 2050, sickle cell cases will increase by 30% if no intervention is put in place. To facilitate early detection of sickle cell anaemia, medical experts employ machine learning algorithms to detect sickle cell abnormality. Previous research revealed that algorithms for recognizing shape of a sickle cell from blood smear by fractional dimension, cannot detect sickle cells if applied on blood samples containing overlapping red blood cells. In this research, the authors developed an algorithm to detect overlapping red blood cells for sickle cell disease diagnosis. The algorithm uses canny edge and double threshold machine learning techniques and takes overlapping red blood cells images as inputs to detect if these cells are sickle cell anaemic. These images have a scale magnification of (200×, 400×, 650×) pixel taken using a microscope. The algorithm was tested on a total of 1000 digital images and the overall accuracy, sensitivity and specificity were 98.18%, 98.29% and 97.98% respectively.

Allele-specific recombinase polymerase amplification for real-time detection of sickle cell anaemia in low-resource settings: evaluation of an isothermal nucleic acid amplification test to detect the βS globin point mutation in paediatric patients

BackgroundSickle cell anaemia is a common, life-threatening disorder caused by a point mutation in the β globin gene. The high cost and complexity of conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell anaemia and other haemoglobin disorders in resource-limited areas. Although several point-of-care tests are commercially available, most are antibody-based tests, which cannot be used in patients who have recently received a blood transfusion. Additionally, very low levels of sickle haemoglobin (HbS) in premature babies and some newborns may cause errors in immunoassays. DNA analysis provides the most reliable approach to diagnose haemoglobin disorders. However, DNA analysis is not currently available at the point of care due to its cost and complexity. Here, we describe a rapid, low-cost nucleic acid test that uses real-time fluorescence to detect the point mutation encoding HbS in one round of isothermal recombinase polymerase amplification. MethodsVenous and capillary blood samples were obtained from healthy volunteers who were recruited by word of mouth. Venous blood samples from patients with varying genotypes seen in the Sickle Cell Disease Program at Texas Children's Hematology Center were collected and deidentified under IRB-approved exemption. Genotypes, as determined by qualitative isoelectric focusing combined with quantitative high performance liquid chromatography (HPLC) to confirm a diagnosis, were provided with the blood samples. The assay was evaluated with genomic DNA extracted from a set of blood samples of varying genotypes using the Axxin T8-ISO, a low-cost, field-deployable benchtop fluorimeter. FindingsThe developed assay demonstrated 100% sensitivity for both the βA globin and βS globin alleles, and 94·7% and 97·1% specificity for the βA globin allele and βS globin allele, respectively (n=91). We also demonstrate a complete sample-to-answer workflow using a two-step lysis method and direct input of lysate into the allele-specific assay, and genotyping of blood samples in an open-source, custom built fluorimeter whose components cost less than US$850. InterpretationThis sample-to-answer nucleic acid test has the potential to be adapted to other disease-causing point mutations in genomic DNA. The technology described could streamline diagnosis in resource-limited settings of patients with sickle cell anaemia who have recently undergone a blood transfusion, with a comparable cost to protein-based tests. FundingNIH K23-HL148548-01A1.

Innovative screening test for the early detection of sickle cell anemia

In this study, the capability of thermogravimetry in conjuction with a multivariate statistical analysis, was investigated for the screening of Sickle Cell Anemia (SCA), a hereditary disorder of hemoglobin characterized by severe hemolytic anemia with different severe clinical manifestations.SCA results from a mutation in the sixth codon of the beta globin gene, which results in the substitution of glutamic acid for valine and leads to the production of an altered form of hemoglobin, hemoglobin S (HbS). People with this disorder have atypical hemoglobin molecules which tend to aggregate together and form filaments inside the red blood cells. These deformed red blood cells called half-moon or sickle, are rigid and unable to flow inside the small vessels, creating occlusions of the small circulation. Systematic screening for SCA is not a common practice, and diagnosis is usually made when a severe complication occurs. An early and rapid diagnosis is important for patients in order to prevent and treat the painful episodes that can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels.A novel test was developed using whole blood samples from patients with congenital defects and analyzed by the TG7 thermobalance (PerkinElmer) without any pretreatment. The resulting TG and DTG curves of blood samples were compared to those typical of healthy individuals and results demonstrated a different thermal behaviour of the anemic patients with respect to healthy individuals as result of the different amounts of water content and corpuscular fraction. The multivariate statistical analysis performed by chemometrics allowed a quick identification of differences between the two population and provided a model of prediction in patients with heterogeneous congenital hematological disorders. The predictive ability of the model was tested by processing patient affected by SCA and with a confirmed diagnosis obtained by the molecular analysis. The model provided for a sensitivity and an accuracy of a 100% and an error of prediction of about 0.1%.

Advances in the Diagnosis and Detection of Sickle Cell Anemia

Advances in the Diagnosis and Detection of Sickle Cell Anemia

Incidental Detection of Sickle Cell Anaemia as a Significant Haematological Problem in an Island Based Population

Incidental Detection of Sickle Cell Anaemia as a Significant Haematological Problem in an Island Based Population

Spectral detection of sickle cell anemia and thalassemia

Sickle cell disease (SCD) and thalassemia (Thal) are the most common inherited, autosomal, recessive blood disorders which lead to complications such as vasoocclusion and splenomegaly. Patients who suffer from these diseases have poor quality of life and shorter life span. The most common techniques for detection of these diseases are complete blood cell count, followed by electrophoresis and high performance liquid chromatography. In this connection, the results of this paper indicate the potential of a new technique, based on spectral analysis of blood plasma and cellular components, to detect SCD and Thal with accuracy of 90% and above. To the best of our knowledge this would be the first report on spectral pathology of hemoglobinopathy.

Neonatal Screening of Sickle Cell Anemia: A Preliminary Report

To evaluate feasibility of systematic neonatal screening for sickle cell disease in Chhattisgarh. A pilot study was done from February 2008 through January 2009 in Department of Pediatrics & Neonatology, Pt. J.N.M. Medical College & Dr.B.R.A.M. Hospital, Raipur (Chhattisgarh) on a total of 1,158 neonates. Blood samples from the neonates were taken after 48 h of birth on filter paper for detection of sickle cell anemia using Biorad hemoglobin variant Neonatal sickle cell short programme by high performance liquid chromatography (HPLC). On follow up, cases were analyzed by HPLC using Beta thalassemia short program to rule out false negative case and other hemoglobin variants. Of the 1,158 neonates screened, 628 were boys (54.2%) and 530 were girls (45.8%). Sickle cell disease was found in 3 cases (0.2%) (95%C.I 0.12-0.28), sickle cell trait was found in 68 cases (5.8%) (95%C.I 4.5-7.5). After 6-9 mo of age three cases of sickle cell diseases were reinvestigated, out of which one case turned out to be double heterozygous for sickle cell and beta thalassemia trait. Fourteen preterm neonates reported as normal in initial screening were called for follow up after 6 mo of age, 10 infants reported in OPD and 4 lost in follow up. These 10 infants were reinvestigated; 2 had sickle cell disease, 1 had sickle cell trait and 7 infants were normal. Sixty eight cases of sickle cell trait found with initial screening were also called for follow up after 6 mo of age; 61 cases reported in OPD between 6 mo to 1 y of age and 7 cases lost in follow up. Sixty one infants were reinvestigated; 60 had sickle cell trait and 1 had sickle cell disease which was reported earlier as Sickle cell trait (FAS). Thus on total follow up of cases, there were 5(0.4%) sickle cell disease, 61(5.26%) sickle cell trait, 1(0.08%) double heterozygous for sickle cell and beta thalassemia trait which needs mutation studies for thalassemia characterization (s/β(0) or s/β(+)). Early detection of sickle cell disease (SS) done by neonatal screening will help in early prevention and management of complications in postnatal period.

Human mutations and their detection by gene and linkage analysis, allele sharing and association methods

It has been 20 years since DNA analysis was first used in the detection of sickle-cell anaemia. Here, techniques for detecting human mutations are reviewed. We describe direct detection of mutations using restriction enzyme analysis and polymerase chain reaction amplification to detect gene deletions, rearrangements and point mutations. Indirect detection of mutations include the use of DNA polymorphisms in linkage analysis.

Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells.

We have refined polymerase chain reaction (PCR) assays for the detection of sickle cell anaemia, the delta F 508 deletion causing cystic fibrosis, and the IVS1-110 mutation leading to beta thalassaemia, allowing them to be successfully performed upon single cells using fluorescent primers. We have also assessed the possibility of detecting aneuploidies of chromosomes 13, 18 and 21 using a quantitative fluorescent polymerase chain reaction (QF-PCR) with primers flanking polymorphic short tandem repeat (STR) markers. Trisomies were readily diagnosed by the detection of tri-allelic patterns. However some heterozygote normal and trisomic diallelic patterns did not produce the expected ratios of amplified PCR products due to preferential DNA sequence amplification. Total allelic drop out (ADO) did not occur with any of the cells tested. Multiplex QF-PCR assays can be performed on a single cell in under 6 h and simultaneously provide diagnosis of single gene defects, sex determination and an indication of selected chromosome aneuploidy.

Prenatal detection of sickle cell anaemia with polymerase chain reaction is rapid

Prenatal detection of sickle cell anaemia with polymerase chain reaction is rapid

Genetic screening: For better or for worse?

Cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and thalassemia are autosomal-recessive diseases that occur more frequently than once in 4,000 live births in subgroups of the American population. Tay-Sachs disease can be diagnosed by mid-trimester amniocentesis, a safe procedure.1 Early intrauterine detection of sickle cell anemia and thalassemia by placental aspiration has been reported2,3; the safety and accuracy of the techniques require confirmation. In the future, diagnosis of the 16-week fetus with cystic fibrosis will also be possible. Prenatal diagnosis could drastically reduce the incidence of these disorders, but there are two prerequisites. First, couples in whom both mates are carriers must be identified before they have any children.

Sickle Cell Screening in Newborns

Sickle cell anemia (homozygous hemoglobin S disease) occurs in approximately one out of every 600 black American newborns. This high prevalence, combined with well-recognized morbidity and mortality, make it an important health problem in this country—a far greater problem than other genetic diseases for which early detection programs have been legally mandated for more than a decade. Until recently, there have been few programs for the early detection of sickle cell anemia. There are two justifications usually cited for this lack of action: first, the diagnosis may be technically difficult to establish in the first few months of life because of the large amounts of hemoglobin F characteristic of this period, and second, since there is no cure or even effective therapy for sickle cell anemia, it is widely believed that there is no particular advantage to early diagnosis. The article by Sexauer and associates (p 805) is primarily addressed

The Sickle Cell Complexity

Since passage of the National Sickle Cell Anemia Control Act on May 16, 1972, the American public has become increasingly aware of sickle cell disease. This growing cognizance led to the establishment of mass sickle cell anemia testing (SCAT) programs, as well as the institution, in various states, of legislation requiring mandatory screening. With such legislation and mass testing, medical and social questions have arisen concerning previously unconsidered problems associated with the detection of sickle cell anemia and trait. Many investigators regard the trait as a benign condition. However, reports of associated morbidity during periods of "extraordinary physiological stress"¹have generated much controversy regarding its true nature. Additional discussion concerns the effectiveness of mass screening programs for a genetic disease, with a benign carrier state, that has no treatment or preventive modalities presently available other than ineffectual genetic counseling. Since the principal outcome of current mass SCAT programs is

Antenatal detection of sickle-cell anemia.

Elsewhere in this issue, Kan and his colleagues demonstrate that the β chain of hemoglobin S is synthesized in reticulocytes of a human fetus aborted at the 15th week of gestation. Moreover, they show that a blood sample obtained from the placenta in the eighth month of pregnancy contains adequate numbers of fetal reticulocytes. They suggest that if placental aspiration earlier in gestation is shown to be a safe method to obtain fetal red cells, the antenatal detection of sickle-cell anemia could be accomplished by means of these technics. Earlier, the data of Walker and Turnbull1 and Huehns et al. . . .

Further studies on the antenatal detection of sickle cell anemia and other hemoglobinopathies.

The synthesis of hemoglobin A was measured in small samples of peripheral blood cells from 9- to 20-week human fetuses. In 15 fetuses, synthesis of hemoglobin A accounted for 4 to 13% of total hemoglobin synthesis and the percent of hemoglobin A synthesis varied directly with fetal size. In one aborted fetus of a mother heterozygous for hemoglobins A and S, the synthesis of hemoglobin S was 3.4% and that of hemoglobin A was less than 3% of total hemoglobin synthesis. Peripheral blood cells of normal mothers (AA) synthesize 15–20% as much hemoglobin A as do comparable aliquots of peripheral blood of their fetuses. Therefore, the prenatal diagnosis of sickle cell anemia and other β-chain hemoglobinopathies appears biologically feasible, even with samples of fetal blood in which up to one-third of the cells are of maternal origin. Since amniotic fluid samples do not consistently contain the necessary numbers of fetal blood cells, we believe antenatal diagnosis of hemoglobinopathies awaits development of a safe, reliable, amnioscope to aid in the sampling of small quantities of fetal blood under direct visualization.

Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester.

The synthesis of adult-type hemoglobin was measured in small samples of peripheral blood cells from 9- to 18-week human fetuses. Hemoglobin indistinguishable from hemoglobin A was identified by ion-exchange chromatography, electrophoresis at pH 8.6, tryptic peptide analysis, and the insensitivity of its synthesis to the action of O-methylthreonine. Synthesis of hemoglobin A accounted for 8 to 14 percent of total hemoglobin synthesis and was demonstrated in as little as 10 microliters of fetal blood. These studies provide sensitive methods for the detection of beta chain types in hemoglobin synthesized by the human fetus at midtrimester. If methods to obtain small quantities of fetal blood at midtrimester become available, these techniques should be applicable to the antenatal detection of sickle cell anemia and related hemoglobinopathies.