Homozygous Sickle Cell Disease Research Articles

Urinary Sickle Cells in a Patient with Vaso-Occlusive Crisis: A Case Report

Vaso-occlusive crisis is the most common complication in sickle cell disease and can cause multi organ damage. Here we present a case of sickle cell anemia with vaso- occlusive crisis. The patient is a 39-year-old tribal male, a known case of homozygous sickle cell disease who presented with acute respiratory infection, bilateral lower limb pain and decreased urine output. Peripheral blood smear showed sickled red cells with features of hemolysis and reticulocytosis. Hemoglobin electrophoresis showed prominent HbS band. His symptoms progressed rapidly and he developed hematuria. Urine examination showed sickled erythrocytes. Later the patient went into cardiac arrest and succumbed to the disease. While hematuria is a common symptom in sickle cell disease, sickled RBCs in urine microscopy should be considered a bad prognostic indicator.

28-Year-Old Man With Joint Pain

28-Year-Old Man With Joint Pain

Capillarys 3 Octa®: Analytical Performance Assessment for HbA1c Quantification

Objective: Determination of HbA1c level is a precious indicator for therapeutic follow-up of patients with type 1 or type 2 diabetes. Our study aimed to evaluate the analytical characteristics of Capillarys 3 Octa® HbA1c measurement by capillary electrophoresis.
 Materials and Methods: Our study involved 265 venous whole blood specimens repeatability, intermediate fidelity, accuracy, linearity, and correlation with the Arkray HA-8180 analyzer which uses HPLC as a dosing method. We studied interferences such as hematocrit, triglycerides, total bilirubin, labile fraction, and hemoglobin abnormalities.
 Results: The linearity correlation was between 4.4% and 20.3%. There was a strong correlation with HPLC (r > 0.99, P< 0.0001). No interference from hematocrit (20-93%) (P: 0.888), triglycerides (until 25 mmol/L) (P: 0.388), total bilirubin (< 587 µmol/L) (P: 0.993), and labile fraction was observed. No problem related to inter-sample contamination was observed. The sensitivity was zero for homozygous sickle cell disease and S/C composite hemoglobinosis. However, sensitivity was high for heterozygous forms (69% for A/S and 60% for A/C). The analyzer was able to separate and quantify HbA2 fraction, allowing ß-thalassemia accidental detection.
 Conclusion: Capillarys 3 Octa® based on capillary electrophoresis proved to be precise and a linear instrument for HbA1c measurement. Several clinical interferences and Hb variants had no effect on the results. The results of this evaluation suggest that this analyzer is suitable for routine use in clinical chemistry laboratories.

Steady-state indirect bilirubin level in sickle cell anemia: A comparative hospital-based cross-sectional study

Background: The major forms of sickle cell disease are characterized by hemolysis. The extent of this hemolysis may itself depend on the form of the disease even in the steady-state. This study aims to compare the indirect bilirubin level between the homozygous and beta plus sickle cell anemia (SAFA2) in the steady-state conditions. Material and methods: Fifty subjects of each forms, homozygous and beta plus sickle cell anemia were enrolled in a comparative hospital-based cross-sectional study from April 2008 to May 2008 at the laboratory of the university hospital of Yopougon, Ivory Coast. Subjects of each form awaiting their visits were selected from the database of the patients regularly followed in the clinical hematology department of Yopougon University Hospital. During their visits, clinical and socio-demographic data were collected, and a blood sample was also taken to carry out biological examinations. Blood count and bilirubin testing were performed by using Sysmex Kx-21™ and BioMérieux KONELAB-20™, respectively. Data were analysis in the software Statistical Product and Service Solutions version 12.0. Shapiro test was used to verify data normality and Student t-test for the comparison of parametric data means or Mann-Whitney’s independent test for none-parametric data. Pearson Chi square tests or Yate’s correction test for continuity where the first test was not appropriate. The threshold of statistical significance was set at p ≤ 0.05. Results: The median Hb was higher in SAFA2 patients compared to homozygous SSFA2 patients 10.7 g/dL [IQR = 8] vs 7.3 g/dL [IQR = 7]; p < 0.001. In contrast, the median of indirect bilirubin was lower in SAFA2 patients compared to SSFA2 patients 5.6 μmol/L [IQR = 10] vs 15.1 μmol/L [IQR = 13], p < 0.001. The ratio of these two medians shows that subjects SAFA2 hemolysis 2.7 times less than the homozygous subjects SSFA2 in the steady-state. Out of the one hundred subjects, indirect hyperbilirubinemia defined as indirect bilirubin median > 14 μmol/L was higher in men than in women 79.2% vs 20.8%, p = 0.01 whereas patients age groups was not associated to indirect hyperbilirubinemia, p = 0.4. Conclusion: Our data suggest that the hemolysis is higher in subjects SSFA2 than SAFA2 subjects in the steady-state. This marked chronic hemolysis of SSFA2 subjects must be taken into account when it comes to give a comprehensive care to these subjects.

Retinal atrophy and markers of systemic and cerebrovascular severity in homozygous sickle cell disease.

While paramacular retinal atrophy (PRA) is known to be found in 48% of eyes of adults and 42% of eyes of children with homozygous SCD (SS-SCD), the aim of this study is to assess the association between PRA and red blood cell (RBC) deformability, hematological markers and brain imaging abnormalities in SS-SCD. This study is a subset of DREAM2, a prospective observational study performed between August 2015 and August 2016. Children (5-17 years) with SS-SCD and no history of large vessel vasculopathy, were included. Ophthalmological characteristics including visual acuity, fundus examination, OCT of central and temporal retina (with several retinal thickness measurements) were explored in relation with RBC deformability (ektacytometry), hematological and biochemical (hemolysis parameters), and neurological (cerebral oxygenation estimated by Near Infrared Spectroscopy, brain magnetic resonance imaging) investigations. 17 children (5 boys; mean age: 13 years) with complete ophthalmological investigations were included in the analysis; 8 exhibited PRA. RBC deformability was found to be significantly lower in children with PRA for measurements made at 1.69 Pa (0.16 a.u ± 0.02 vs 0.21 a.u ± 0.03, p = 0.02) and above, as well as cerebral oxygenation (59.25% ± 9.9 vs 71.53% ± 4.9, p = 0.02). A significant positive correlation was found between temporal retinal thickness and hemoglobin level (ρ = 0.65, p = 0.007), hematocrit (ρ = 0.53, p = 0.04) and RBC deformability at 3 Pa (ρ = 0.75, p = 0.005) and above. These results suggest that PRA could be an early marker of systemic severity and cerebral oxygenation in SCD. Whether it could help predicting cerebral vasculopathy requires further investigations.

A study of left ventricular diastolic dysfunction in patients of sickle cell disease

Background: Left ventricular diastolic filling patterns are altered in patients with sickle cell anaemia and these diastolic abnormalities may be present in the absence of heart failure. These abnormal patterns suggest an intrinsic myocardial abnormality in patients with sickle cell anaemia and may prove to be early markers of cardiac disease. The ventricles do not properly relax and become stiff meaning they cannot fill with blood properly.Methods: This study was carried out in tertiary health care hospital in western India, where homozygous sickle cell disease patients and age and haemoglobin matched controls were taken into cross sectional observational study design.Results: The mean values of E, A, E/A, IVRT, DT, AT, were in normal range in controls. In cases although the mean values of E, A, E/A, IVRT, DT, AT were in normal range, there were 19 cases of sickle cell anaemia who had significant alteration in indices of diastolic LV function from normal range. Out of these 20 cases with diastolic dysfunction, 11 cases had significant increase in (E) velocity from normal range with E/A ratio more than 2 suggestive of restrictive filling pattern of diastolic dysfunction while in 8 cases E value was less than normal with increase in (A) velocity and E/A ratio was less than 1 suggestive of impaired relaxation pattern of diastolic dysfunction. When indices of diastolic LV function were compared in cases and controls, mean early peak filling velocity (E) was significantly higher in cases. Conclusions: In present study, out of 37 cases 19 (51%) cases had LV diastolic dysfunction. Of these 19 cases with diastolic dysfunction, 11 cases had restrictive filling pattern and 8 cases had impaired relaxation pattern of diastolic dysfunction.

A RARE CASE OF SICKEL CELL DISEASE (SCD) MOYA MOYA SYNDROME : CASE REPORT

BACKGROUND: Moyamoya syndrome (MMS) is a relatively uncommon vascular complication of sickle cell disease (SCD) characterized by progressive stenosis of the supraclinoid carotid arteries and development of typical collaterals. MMS confers a signicant lifetime risk of ischemic stroke, and frequently results in multiple cerebrovascular events leading to poor outcomes. Management of MMS in this population is challenging. Ischemic stroke develops in 7% to 11% of children with homozygous sickle cell anemia (HbSS) CLINICAL DESCRIPTION: We present a case of Moyamoya syndrome disease that was detected in a 7-year-old female who presented with transient altered mental status &leftsided hemiparesis. On MR angiography and further investigation, the child was diagnosed to have Moyamoya diseases with sickle cell disease. MANAGEMENT: Although there is no denitive medicaltreatment, numerous direct and indirect revascularization procedures have been used to improve the compromisedcerebral circulation, with outcomes varying according to procedure type, the treatment goal is toimprove blood ow to hypoperfused cerebral regions bysurgery. Our patient was treated conservatively and referred to a higher Centre for specic neurosurgery. Neurosurgical revascularization process leads to favorable outcome. CONCLUSION: Moyamoya disease can be diagnosed if history, physical exam and brain imaging is highly suspicious. Conventional angiography remains the gold standard for diagnosis and aids in surgical planning for patients with suspected Moyamoya disease

Health related quality of life in children and adolescents with sickle cell disease in central India

Background: Sickle cell disease (SCD) is major health problem in central India. This is a single centre study conducted to assess the health-related quality of life (HRQOL) in children and adolescent with homozygous (SS pattern) and heterozygous (AS pattern) SCD with respect to healthy children.Methods: This is a case control study conducted in a tertiary care hospital. Study group included total of 150 children and adolescents with SS pattern and AS pattern. HRQOL of the children in study group was compared with demographically matched 100 healthy children in comparison group. WHO-QOL BREF questionnaire was administered to both the groups to measure their HRQOL in various domains. Multivariable linear regression was used to account for socio-demographic factors influencing HRQOL.Results: The WHO-QOL BREF scores of children with SS pattern were significantly lower than those obtained in the AS pattern and healthy children (p<0.001) in all studied domains (physical, psychological, social and environmental). The domain scores of HRQOL in children with AS pattern didn’t differ significantly as compared to healthy children. Results also highlighted that along with severity of disease, various demographic characteristics like age, gender, locality and socioeconomic status had significant impact on various domains of HRQOLConclusions: SCD has detrimental effect on HRQOL of growing children and adolescent that is compounded by various demographic and socio-environmental factors in a developing country.

Neonatal Screening for Sickle Cell Disease in Congo.

Introduction Sickle cell disease is an autosomal recessive inherited disorder due to the mutation of a gene coding for the globin beta chain. The aim of this study is to update the epidemiological data on hemoglobinoses, in particular sickle cell disease in newborns in Congo. Materials and Methods This was a descriptive cross-sectional study, conducted from October 1, 2019, to March 31, 2020, throughout the Congolese national territory. It involved all full-term newborns, without distinction of nationality, aged 5 days or less, and whose parents consented to participate in the study. The blood samples, taken at the heel and collected on Whatman blotting paper, were analyzed using the HPLC Variant NBS machine. Results In 2897 newborns (NN) screened, hemoglobin abnormalities were found in 603 NN (20.81%). The mean age of these newborns was 1 day (extremes 0 and 5 days). The male-to-female ratio was 1.03. Abnormal hemoglobins were mainly Hb S (n = 597 (97.71%)); Hb C (n = 5 (0.82%)); and variants (n = 7 (1.15%)). The national prevalence of major sickle cell (MSC) syndromes and sickle cell trait was 1.35% and 19.43%, respectively. The prevalence ranged from 1.77% to 2.56% for MSS in four departments and from 20.5% to 25.8% for the sickle cell trait in six other departments. Conclusion Data on homozygous sickle cell disease remain consistent with previous studies. However, further studies should clarify the molecular anomalies of the variants observed in our samples.

Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassaemia and fetal haemoglobin in HbSS

Introduction The haematological and clinical feature vary markedly between the different genotypes of sickle cell disease. Even within the single genotype of homozygous sickle cell disease (HbSS), there is marked variability which is presumed to result from interacting genetic and environmental factors. Areas Covered The classification of the different genotypes of sickle cell disease with approximate prevalence at birth in different communities and some of the major clinical and haematological differences. This assessment includes three potential genetic factors influencing haematology and clinical outcome in HbSS, the beta globin haplotype, alpha thalassaemia and persistence of fetal haemoglobin (HbF). Expert Opinion The author is a clinician with experience of sickle cell disease primarily in Jamaica but also in Greece, Uganda, Saudi Arabia and India. It is therefore necessarily an account of clinical data and does not address current debates on molecular mechanisms. Most data derive from Jamaica where efforts have been made to reduce any symptomatic bias by long term follow-up of patients all over the island and further reduced by a cohort study based on newborn screening which has been in operation for over 48 years.

Association between tumor markers (CA125, CA15-3) and homozygous sickle cell anemia

Association between tumor markers (CA125, CA15-3) and homozygous sickle cell anemia

Comprehensive Evaluation and Determinant of Second Lactate Threshold in Homozygous Sickle Cell Disease

Following respiratory, cardiac and peripheral vascular impairments, Sickle Cell Disease (SCD) patients can experience early second lactate threshold (S2) during low intensity exercise. Through a comprehensive evaluation of exercise parameters we want to assess and find factors associated with an early reached of S2. Homozygous SCD patients were prospectively included in this study. They performed physical exercise with a standardized protocol. Gaz exchange, capillary lactate concentration measurements and echocardiography were performed at baseline and throughout the exercise until S2 was reached. Baseline and exercise data of the bottom and top half of patients in terms of %predicted VO2 at S2 were compared to investigate the determinant of an early S2, adjusted over age, sex and body mass index (BMI). Thirty patients were included (42 ± 12 years old, 50% of female). Bottom half group reached 34,5% ± 5,2 predicted VO2 at S2 (mean %predicted Watt = 32% ± 5,9) while top half group reached 46,2% ± 6,8 predicted VO2 at S2 (mean %predicted Watt = 42,8% ± 9,6) ( Fig. 1 ). Plasmatic hemoglobin concentration was the only baseline parameter associated with a lower %predicted VO2 at S2 (8.1 ± 1 vs. 9.2 ± 1 g/dl, P = 0.007). None of the baseline echocardiographic parameters were associated with a lower %predicted VO2 at S2. Diastolic adaptation through exercise was associated with a better power and VO2 at S2 (ratio S2/baseline of E’lateral wave and E/E’, respectively 1,39 vs. 1,63, P = 0,039 and 1,2 vs. 0,99, P = 0,004) SCD patients with lower hemoglobin and impaired diastolic adaptation through exercise displayed earlier S2, independently of age, sex and BMI. This highlights the great vulnerability of these patients to low metabolic stress. They should benefit from low intensity physical therapy programs.

Incidence and management of acid peptic disorders in sickle cell disease patients in Western Odisha

Background: Sickle cell disease (SCD) is a chronic hemolytic disorder characterized by the presence of crescent-shaped red blood cells. Abdominal pain is the common presenting symptom in adults with SCD. Among the patients who are not in crisis, it is estimated that one third of patients with homozygous SCD with chronic recurrent epigastric pain has endoscopic evidence of peptic ulcer disease. Aims and Objectives: This study was undertaken with an aim to analyze the incidence and management of acid peptic disorders among SCD patients in Western Odisha. Materials and Methods: A prospective study was done considering 88 homozygous SCD patients. All the patients underwent upper gastrointestinal endoscopy (UGIE) with gastric antral biopsy and rapid urease test (RUT). Cases with Helicobacter pylori were administered a 14 days course of three drug regimen of anti H. pylori drugs and followed-up to 6 weeks of beginning the treatment with repeat UGIE and RUT. Results: Out of 88 cases, 19 cases had duodenal ulcer (21.6%) which was significantly high than patients with gastric ulcer (13.6%). Other findings were gastroesophageal reflux disease and gastritis. About 93.5% of patients became RUT negative after taking anti H. pylori medication. Conclusion: SCD patients with acid peptic disorder constitute a sizeable proportion of patients attending surgical outpatient department and indoor department of surgery. Conservative treatment with life style modification can effectively improve the symptoms of acid peptic disease.

Transfusion Practice, Post-Transfusion Complications and Risk Factors in Sickle Cell Disease in Senegal, West Africa.

Context and ObjectivesBlood transfusions (BT) remain a mainstay of therapy for patients with sickle cell disease (SCD) but pose significant clinical challenges. We aim to assess infectious markers, red cell alloimmunization, and iron overload secondary to BT in SCD patients.Materials and MethodsThis case-control study included 253 SCD (153 SCD-transfused and 100 SCD non-transfused). We evaluated the transfusion practice (modalities, indications), post-transfusion complications (infections, alloimmunization, iron overload), and risk factors of these complications (socio-demographic, clinical, biological).ResultsMedian age was 28.5 years (5 – 59). The sex ratio was 0.86. Homozygous SCD was the most common (95.3%). Simple BT was performed in 92.8% and transfusion exchange in 18.9%. Transfusion indications were dominated by acute anemia (57.06%) and vaso-occlusive crisis (VOCs) (14%). Red blood cell concentrates (RBCSs) were administered to 93.46%. The median RBCs received per patient was 10 (2 – 48). The prevalence of VHC in SCD-transfused was 1.33% and 2% for VHB. Anti-HIV antibodies were not found. Red cell alloimmunization frequency was 16%. The most common alloantibodies were anti-rhesus (34.19%) and anti-Kell (23.67%). Iron overload was detected in 7.84%. The number of RBCs transfused was the only risk factor for alloimmunization (p = 0.03) and iron overload (p = 0.023). BT frequency was not related to infectious transmission.ConclusionBT therapy is still a risk for SCD polytransfused patients despite advances in blood safety. Although infectious transmission has rare, the risk of alloimmunization and iron overload is high in these patients.

Predictive factors associated with subclinical altered left ventricular function in children with sickle cell anemia

Sickle cell anemia (SCA) is a hemoglobinopathy that is common worldwide. Cardiac abnormalities in sickle cell anemia are frequent and early. However, they are not well investigated among children. The aim of our study was to evaluate left ventricular (LV) function in children with sickle cell anemia. We conducted a study in the echocardiographic laboratory in the military hospital of Tunis between July 2019 and December 2019. Thirty patients with SCA and fifty-eight controls matched for age and sex without SCA or heart disease, were compared. The echocardiographic measurements were indexed according to body surface. Our study population was divided into two matched groups: Group 1: included 30 patients with homozygous SCA. Group 2: included 30 healthy controls. Group 1 showed significantly larger LV diameter (36.2 ± 2.5 mm/m2 vs. 29.3 ± 1.3 mm/m2, P = 0.005). Group 1 also showed lower LV ejection fraction (62% ± 0.5 vs. 65% ± 5, P = 0.001). Whereas, no significant difference was observed for cardiac output (P = 0.4). Otherwise, two-dimensional longitudinal strain of LV was higher in SCA group (−21% ± 3.07 vs. −25% ± 2.98; P < 0.01). We found a P-value within the limit of significance between the occurrence of certain complications and the alteration of SGL such as the occurrence of osteonecrosis (P = 0.053, R = 0.44), splenomegaly (P = 0.051, R = 0.61), splenic sequestration (P = 0.074, R = 0.34) and dyspnea (P = 0.075, R = 0.38). The influence of hydroxycarbamine treatment on alteration of SGL was close to significance (P = 0.075, R = −0.07). We found a statistically significant influence between the alteration of SGL and the dosage of hydroxycarbamine (P = 0.043, R = −0.46). Our study highlights several cardiac abnormalities in children with SCA, which could represent a marker of disease severity. Our study suggests that hydroxycarbamine treatment may attenuate the alteration of myocardial function in children with SCA.

Size and density measurements of single sickle red blood cells using microfluidic magnetic levitation.

Single cells have unique biophysical signatures that can rapidly change during various disease states. For instance, cellular density is an inherent property differing between cell types. Characterizing changes in fundamental density properties down to the single-cell level can reveal sub-populations in pathological states. Here, we have developed a microfluidic, magnetic levitation-based assay (MagDense) that detects minute density differences of individual red blood cells (RBCs) down to 0.0001 g mL-1 resolution. This assay fractionates RBCs based on their density profiles in a non-ionic paramagnetic medium flowing in a capillary microchannel placed between magnets with same poles facing each other. Based on precisely measured levitation height and density of individual RBCs at their specific equilibrium state, we demonstrated that MagDense can accurately analyze the density of sickle hemoglobin (HbS)-containing RBCs and normal hemoglobin (HbA)-containing RBCs. In addition, the precise density and cell size measurements at the single cell level showed three different sub-populations of RBCs in blood samples from individuals with homozygous sickle cell disease receiving blood transfusions; where less dense, HbA-containing RBCs levitated higher, while the denser, HbS-containing RBCs levitated lower. We compared the mean RBC densities of sickle cell disease subjects with healthy controls and found distinctly separated bands of RBC density for each group denoting the likely range of cell densities seen in the blood samples. The high resolution of our method enabled measurement of deviation from the mean RBC density. Moreover, we introduced a new term as a measure of density dispersion, "RBC levitational density width, RLDW". Mean RBC density in sickle cell disease associated with hemoglobin from complete blood count (p = 0.032, linear regression) and RLDW associated with absolute reticulocyte count (ARC) and RBC distribution width (RDW) from complete blood count (p = 0.002 for ARC and p = 003 for RDW, linear regression). Our magnetic levitation-based assay enables rapid, accurate, density-based imaging, profiling and label-free monitoring of single RBCs. Our approach can be broadly applicable to investigate blood cell disorders and the effects of emerging pharmacological and curative therapies in patient outcomes.

Impact of hydroxyurea on hospital stay &amp; analgesic utilization in sickle cell anaemia with vaso-occlusive crises

Hydroxyurea (HU) has been useful in preventing sickle cell vaso-occlusive crises (VOC). A few studies also suggest utility of HU, during acute VOC. Sickle cell anaemia (SCA) is of high prevalence in western districts of Odisha State, India, and VOC is a common presentation, despite being mostly of Arab-Indian haplotype. This study was undertaken to evaluate the impact of HU on hospital stay and analgesic utilization in acute painful VOC of SCA. Homozygous sickle cell disease (HbSS) patients were categorized as cases who were receiving low-dose HU (10 mg/kg/day) and patients who were not on HU were considered as control. Days of hospital stay, analgesic utilization and visual analogue scale (VAS) score in patients were compared with that of control. Analgesics used to control pain were tramadol hydrochloride, ketorolac and diclofenac. A total of 359 homozygous sickle cell disease (SCD) patients with VOC were studied (187 patients and 172 controls). The patient group had lesser mean days of hospital stay (1.4 days less than controls, P<0.001) and required lesser days of analgesic utilization than controls (1.18 days less than controls, P<0.001). Significant differences were observed between patients and controls concerning VAS score and amount of tramadol hydrochloride, ketorolac and diclofenac utilization (P<0.05). In this study, HU was found to have beneficial effects in acute VOC of homozygous SCD, which includes shortening the duration of hospital stay and reducing the net amount of analgesic utilization during hospitalization.

P106: EARLY PREVENTIVE DIAGNOSIS OF HEMOLYTIC ANEMIA IN SICKLE CELL PATIENTS BY DETECTING THE TRIGGERING OF ERYPTOSIS.

Background/Aims: Sickle cell disease (SCD) also known as sickle cell anemia is one of the most worldwide-disseminated hereditary hemoglobinopathies. It is caused by a single amino acid substitution at the sixth residue of β globin gene (Glu6Val), which results in an abnormal hemoglobin called hemoglobin S (HbS). The acceleration of HbS polymerization induces rigid and dysfunctional erythrocytes that play a central role in acute and chronic clinical manifestations of SCD(Conran et al.,2009). Vaso-occlusion and hemolytic anemia are the hallmarks of SCD. We aim to explore the cellular environment of red blood cells to explain the physiopathology of SCD. In fact, the life span of circulating erythrocytes in healthy individuals vary from 100 to 120 days. In SCD, red blood cells undergo a form of cell death, namely, eryptosis before they reach their full life span. Eryptosis is triggered by a wide variety of factors as hyperosmolarity, oxidative stress and energy depletion. It is characterized by the presence of membrane blebbing, cell shrinkage, and phosphatidylserine (PS) exposure (Lang et al.,2012). In this study, we will explore the mechanism of triggering of eryptosis in Sickle cell disease. Methods: Following clinical diagnosis, 50 homozygous SCD patients and 30 healthy donors were identified for hematological and cellular assays. Flow cytometry was performed in order to determine the viability parameters of erythrocytes. The morphology of red blood cells and the externalization of phosphatidylserine was detected by labeling red blood cells with Annexine V. Moreover, we had identified intracellular calcium concentration and ceramide level by labeling erythrocytes with Fluo3-am and anti-ceramide antibodies. Finally, we had quantified reactive oxygen species (ROS) by labeling red blood cells with CM-H2DCFDA. Results and Discussion: Eryptosis in sickle cell patients is accelerated. In fact, PS (+) red blood cells are more present in patients than in healthy subjects. Therefore, eryptosis is triggered by oxidative stress, which stimulates the increase of calcium activity and subsequent externalization of PS and red blood cells shrinkage in sickle cell patients. However, the pathway of ceramide can also be considered a potential stimulating factor of eryptosis in SCD. Eryptosis ensures healthy erythrocyte quantity in circulation, whereas excessive eryptosis is the cause of acute anemia and may contribute to vaso-occlusive crisis in SCD patients.

Role of Antioxidants by Comparative Evaluation of Oxidative Stress in Heterozygous v/s Homozygous Sickle Cell Disease Patients: Research Protocol

Background: Red blood cells are sources for oxidants in Sickle cell anaemia, a genetic disorder of itself. Heme iron and oxygen in oxygenated hemoglobin have bonding interaction and association with electron transfer. In response, antioxidant has modus operandi to reduce oxidative stress and damage to RBC and tissue.&#x0D; The studies on biochemical indicators for oxidative stress in sickle cell would further enhance the understanding and present knowledge of effects of antioxidants on the status of iron metabolism and consequent relief to the sickle cell anaemia patients.&#x0D; Objectives: To evaluate oxidative stress and Antioxidant levels and iron indices factors in heterozygous and homozygous sickle cell disease patients and compare between them along with normal healthy control and Iron Deficiency anaemia&#x0D; Methodology: Comparative Cross-Sectional Study is designed to explore specific antioxidant levels and oxidative stress along with Iron Indices among sickle cell anaemia diagnosed cases attending/admitted in the department of Medicine, Paediatrics and Community Medicine at Jawaharlal Nehru Medical College and its Hospital, Sawangi, Meghe, along with age and sex matched healthy individuals from general population.&#x0D; Results: Oxidative stress as evaluated by stress markers may be higher among the Homozygous sickle cell disease than among the Heterozygous.&#x0D; Conclusion: Oxidative stress may be compounded in sickle cell diseases patients in conjugation with iron deficiency.

Frequency of Haemoglobinopathies in Premarital Screening in Nineveh Province

Background: Haemoglobinopathy is a large heterogeneous group of genetic abnormalities of haemoglobin. It is one of the most common inherited diseases worldwide. Aim of this study: This study aimed to find the frequency of different types of Haemoglobinopathies in premarital couples in Nineveh province. Subjects and Methods: In this cross-sectional study, the subjects were couples who go to the primary health care centers in Nineveh governorate for routine premarital investigations and the data were collected from the main premarital screening centers in Nineveh governorate. Results: In this study, 1127 cases were included. 613 (54.4 %) were male, their ages range between (13-80 years), and 514 (45.6 %) were female, their ages range between (10-52 years). 47 cases were diagnosed as βeta-thalassaemia carriers with an overall frequency of 4.2 %. Ten cases had haemoglobin S (HbS) by the High Performance Liquid Chromatography (HPLC) (sickle cell trait in 9 cases and sickle β-thalassaemia in only one case); the overall frequency of sickle cell carrier state is 0.89 %. Eight cases with an overall frequency of 0.71 % were diagnosed as having other types of Haemoglobinopathies (haemoglobin D, haemoglobin E, haemoglobin H). Eighty one cases were diagnosed as having iron deficiency with an overall frequency of 7.2 %. By using the Hardy –Weinberg equation; we found the expected number of children born with homozygous βeta-thalassaemia would be (0.3/1000 from those born) and homozygous sickle cell disease would be (0.01/1000 from those born). Conclusions: β-thalassaemia trait represented the most frequent Haemoglobinopathy in the region, Iron deficiency was significantly higher in females than in males, HPLC is a good technique for routine use and the expected number of children born with homozygous β-thalassaemia, sickle cell and others (HbD, HbE, HbH) were (0.3/1000, 0.01/1000 and 0.0085/1000 from those born) respectively.