scholarly journals A study of clinical and hematological profile of children with sickle cell disease in a tertiary care hospital, Valsad, India

2017 ◽  
Vol 4 (4) ◽  
pp. 1317 ◽  
Author(s):  
Kinjal G. Patel ◽  
Chintu Chaudhari ◽  
Diwakar Sharma
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Tertiary Care ◽  
Morbidity And Mortality ◽  
Care Hospital ◽  
Age Group ◽  
Cell Disease ◽  
Significant Difference ◽  
The Common

Background: Sickle cell disease is commonly seen in rural population of south part of Gujarat in India. It is one of the common causes of recurrent hospitalization, morbidity and mortality in pediatric population. This study was therefore undertaken to evaluate the clinical profile of sickle cell disease in a tertiary care hospital.Methods: This was the prospective observational study done from November 2015 to October 2016. All the hospitalized diagnosed case of sickle cell disease and trait in age group of 6 months to 14 years were taken in this study. Sickle cell disease with some genetic or metabolic disease and sickle-beta-thalassemia patients were not included in this study.Results: Total 61 patients were admitted over a one year of study period, out of which 47 were sickle cell disease and 14 sickle cell trait patients. Morbidity events were commonly observed in 5-12 years of age groups (68.85%). Seasonal variation also observed, 47.54% of total cases are seen in winter season. Pain (60.65%) was the most common presenting symptom. Severe pallor (39.34%) and splenomegaly (24.59%) was the most common sign in both groups. Vaso-occlusive crisis (59.01%) was the most common morbidity event observed, of which abdominal pain was the most common site of pain involvement. On laboratory analysis, there was statistically significant difference observed in disease and trait. In patients with sickle cell disease acute painful crisis (59.57%) was the common morbidity event observed while in sickle cell trait patients acute febrile illness (71.42%) observed.Conclusions: Vaso-occlusive crisis is the commonest manifestation in pediatric age group. Comprehensive medical care and management is required to decrease the morbidity and mortality. 

Cell Free Fetal and Total DNA Levels in Pregnancies at Risk of Sickle Cell Disease and Significant Ethnic Variation.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3791-3791
Author(s):  
Ageliki Gerovassili ◽  
Kypros H. Nicolaides ◽  
Swee Lay Thein ◽  
David Rees
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Globin Gene ◽  
Cell Disease ◽  
Maternal Weight ◽  
Chromosome 11 ◽  
Significant Difference ◽  
African Caribbean

Abstract Cell free (cf) DNA in maternal circulation is increasingly investigated in pregnancy. We aimed to determine if sickle cell trait women had quantitative differences of cfDNA with controls and if there was an ethnic difference between the cfDNA levels of Northern European and African/African-Caribbean populations. Non-invasive prenatal diagnosis through quantification of fetal and total cfDNA was tested in 33 pregnant women at risk of carrying a fetus affected with sickle cell disease and 124 control pregnancies. Fetal cfDNA assays were based on two Y chromosome specific markers (SRY and DYS14) and total cfDNA was based on the β-globin gene on chromosome 11. Maternal age (MA), gestation age (GA), fetal sex, storage time prior to extraction, maternal weight and body mass index (BMI) before pregnancy were compared to the fetal and total cfDNA levels. No significant difference in the fetal or total cfDNA levels was found between any of the control pregnancies and the sickle cell trait mothers carrying HbAA, HbAS and HbSS fetuses. However, higher levels of total cfDNA, but lower fetal cfDNA levels were observed in the African/African-Caribbean population compared with the Nothern Europeans. A significant variation in cfDNA was found between ethnic groups, which should be taken under consideration in future studies measuring cfDNA.

scholarly journals The Fc Receptor Polymorphisms and Expression of Neutrophil Activation Markers in Patients with Sickle Cell Disease from Western India

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Harshada K. Kangne ◽  
Farah F. Jijina ◽  
Yazdi M. Italia ◽  
Dipti L. Jain ◽  
Anita H. Nadkarni ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Clinical Manifestations ◽  
Western India ◽  
Genotypic Frequency ◽  
Cell Disease ◽  
Activation Markers ◽  
Initiation And Propagation ◽  
Significant Difference ◽  
The Common

Objective. Sickle cell disease has variable clinical manifestations. Activation of neutrophils plays an important role in the initiation and propagation of vaso occlusive crises which can be analysed by determining the expression of neutrophil antigens such as CD16, CD32, and CD62L. The common FcγR polymorphisms (FcγRIIA and FcγRIIIB) are considered to influence clinical presentation. This study focuses on distribution of FcγR polymorphisms and their association with neutrophil activity among the patients from western India.Methods. In this paper 127 sickle cell anemia patients and 58 patients with sickle-β-thalassemia (median age12±8.58 years) with variable clinical phenotypes along with 175 normals were investigated. FcγRs polymorphisms were analysed by RFLP and AS-PCR. Activation of neutrophils was measured by flow cytometry.Results. The genotypic frequency of the H/R genotype of FcγRIIA and the NA1/NA1 genotype of FcγRIIIB was significantly decreased in patients compared to normals (P-0.0074,P-0.0471, resp.). We found a significant difference in the expression of CD32 and CD62L among the patients as against normals. A significantly higher expression of CD32 was seen in the milder patients with the H/H genotype (P-0.0231), whereas the expression of CD16 was higher in severe patients with the NA2/NA2 genotype (P-0.0312).Conclusion. The two FcγR polymorphisms had significant association with variable phenotypes of sickle cell disease. The expression of CD62L decreased in our patients indicating activation of neutrophils.

scholarly journals Death due to sickle cell anemia: autopsy diagnosis

2017 ◽  
Vol 5 (7) ◽  
pp. 3185
Author(s):  
Manjusha Shripad Dhawle ◽  
Ashwini Radhakrishan Tangde ◽  
Santosh Govind Rathod ◽  
Rajan S. Bindu
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Tertiary Care ◽  
Medical Officer ◽  
Clinical History ◽  
Care Hospital ◽  
Cell Disease ◽  
Unexpected Death ◽  
Mortality And Morbidity ◽  
History Of

Background: Sickle cell disease (SCD) is well known and is the commonest hereditary hematological disorder which is associated with increased mortality and morbidity.  They are group of inherited haemoglobinopathies caused by the occurrence of hemoglobin S (Hbs) in homozygous or heterozygous form or in combinations of Hbs with another hemoglobin such as Hbsc or beta thalassaemia (Hbs-thal). Sickle cell syndromes are remarkable for their clinical heterogenecity including their presentations as sudden and unexpected death due to sickle cell crises. While doing autopsy in cases of deaths with no apparent cause and physical over activity medical officer must keep in mind the possibility of death due to vasoocclusive crisis in sickle cell disease. Aim of the study was to create awareness among the physicians and relatives / public and to minimize future unexpected death from complications or crisis from SCD.Methods: This is a retrospective study of 10 cases carried in the department of pathology, in tertiary care hospital and covers a period from January 2009 to December 2016. These cases were brought dead to the casualty with a history of sudden death. After post mortem examination, the specimens were sent for histopathological examination.Results: The record of 10 cases was reviewed. Out of our ten cases 7 were male and 3 were females. The youngest person was 17-year female and oldest was 65 years male. In clinical history 3 cases had complains of chest pain (30%), 3 others had complained of breathlessness (30%), 2 had history of unconsciousness (20%), one case had complained of abdominal pain (10%) and one case had a history of fall and injury (10%). Microscopic examination of each organ was carried out.  Organs like lungs, liver, spleen, kidneys, heart and brain showed wide spread congested vessels which were stuffed with RBC.Conclusions: We present this study to emphasize that sickle cell crisis is one of the cause of sudden unexplained death and highlight the importance of considering sickle cell disease as a cause of death in cases with no apparent cause.

Fetal Hemoglobin Promotes P. Falciparum Growth in Sickle Cell Disease Erythrocytes

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2252-2252
Author(s):  
Natasha M. Archer ◽  
Manoj Duraisingh
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Sickle Cell Trait ◽  
Fetal Hemoglobin ◽  
Morbidity And Mortality ◽  
Multiplication Rate ◽  
Cell Disease ◽  
Low Oxygen ◽  
Parasite Multiplication

Introduction: We have demonstrated that sickle hemoglobin (HbS) polymerization in low oxygen (O2) is the main driver of sickle cell trait (AS) resistance to P.falciparum malaria. This suggests that homozygous sickle cell disease (SS) individuals should have even greater resistance to malaria. Instead SS individuals infected by P. falciparum often have increased malaria morbidity and mortality compared to individuals with normal hemoglobin (AA) or AS. The reasons for this paradox are poorly understood. We propose that fetal hemoglobin (HbF) inhibits polymerization thereby allowing parasite proliferation. To test this hypothesis the following experiments were performed. Methods: AA and SS erythrocytes were collected within two weeks of the assay date. P. falciparum 3D7 parasites were used for growth assays. Growth assays were performed at 1, 3, 5, 7.5, 10 and 16% O2 using synchronized schizonts obtained by magnet purification via the MACS system. Staging was performed via light microscopy analysis of May-Grünwald-Giemsa-stained cytospins. Parasite Multiplication Rate (PMR) was determined via flow cytometry using parasitemia at 64 and 16 hours post infection (hpi) as previously described. Results: In contrast to AS erythrocytes, SS RBCs contain varying amounts of HbF that differ by cell and by individual. In hypoxic SS RBCs with low (3.8%) HbF, P. falciparum parasites remain immature (early trophozoites) in 1, 3, and 5% O2 (Fig. 1) at 36 hpi, when they should have matured into schizonts. However, in SS RBCs with high (22.6%) HbF, 12, 16 and 27% of parasites matured into schizonts in 1, 3 and 5% O2 respectively compared to 0, 0, and 1% in the SS RBCs with 3.8% HbF. Preliminary data also demonstrate that the parasite multiplication rate (PMR), a surrogate of proliferation, in SS RBCs improves with increasing O2 and HbF. Using SS/Hereditary Persistence of Fetal Hemoglobin RBCs with 42% HbF, proliferation in 5% O2 or higher is exponential with a PMR of 2.6 or greater (Fig. 2). In RBCs isolated from SS patients treated with hydroxyurea with HbF of 26.4 or 21%, PMR is 2 or more in 7.5% O2 or greater. Conclusion: These data demonstrate that HbF promotes P. falciparum growth in SS erythrocytes. In addition, the data initiates a resolution of the malaria paradox. HbS in both hypoxic AS and SS surely inhibits P. falciparum growth due to HbS polymerization at low O2. But high levels of anti-sickling HbF observed in erythrocytes from many individuals with SS reverses this inhibition despite the increased content of HbS in SS individuals. Even small increases in P. falciparum proliferation within the broadly compromised SS host may enhance the malaria associated morbidity and mortality seen in this population. These data further suggest the importance of anti-malarial prophylaxis in patients with SS especially those treated with hydroxyurea or anti-sickling agents. Disclosures No relevant conflicts of interest to declare.

scholarly journals Epidemiological and clinical study of sickle cell disease at tertiary care centre in western India

2019 ◽  
Vol 7 (1) ◽  
pp. 97
Author(s):  
Varsha P. Patel ◽  
Archana U. Gandhi ◽  
Chineen Shah
Keyword(s):  
Sickle Cell Disease ◽  
Red Blood Cells ◽  
Sickle Cell ◽  
Blood Cells ◽  
Tertiary Care ◽  
Clinical Profile ◽  
Acute Chest Syndrome ◽  
Care Hospital ◽  
Cell Disease ◽  
Tribal Communities

Background: Sickle cell disorders are structural hemoglobinopathies, rendering red blood cells sickle shaped, less deformable and sticky leading to microvascular vaso-occlusion and premature red blood cells destruction which leads to varied clinical manifestations. It leads to lifelong morbidity thus affecting quality of life and contributes to early mortality thereby reducing the key national resources- the healthy workforce. This study was done to evaluate epidemiological and clinical profile of sickle cell disease attending the centre.Methods: This study was cross-sectional, observational study conducted at tertiary care hospital in Gujarat. After taking ethical clearance patients were enrolled as per inclusion and exclusion criteria and epidemiological and clinical profile of sickle cell disease patients was studied.Results: Mean age of sickle cell disease was 22.58 years. It was found in tribal communities of Gujarat like Rathwa, Baria, Tadvi etc. Commonest symptom was musculoskeletal pain (86.84%), followed by jaundice (71.05%), fever, dyspnoea, abdominal pain and chest pain. Most common systemic manifestation was pain crises (60.66%), followed by hemolytic anemia (31.15%), acute chest syndrome (30%), consolidation (11.67%), hepatopathy (10%) and avascular necrosis of hip. (6.56%).Conclusions: Sickle cell disease is seen in younger patients. In Gujarat mainly tribal communities are affected. Major systemic manifestations of sickle cell disease include pain crisis followed by hemolytic crisis, acute chest syndrome, hepatopathy and AVN of hip.    

Validation of a Non-Invasive Hemoglobin Estimation in Patients with Sickle Cell Disease

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4770-4770
Author(s):  
Murtadha K. Al-Khabori ◽  
Abdulhakeem Al-Hashim ◽  
Zeba Jabeen ◽  
Khalil Al Farsi ◽  
Mohammed Al-Huneini ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Correlation Coefficient ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Pearson Correlation ◽  
Tertiary Care ◽  
Coefficient Of Determination ◽  
Care Hospital ◽  
Cell Disease ◽  
Non Invasive

Abstract Abstract 4770 Introduction: The care of patients with Sickle Cell Disease (SCD) is frequently complicated by difficult venous access complicating blood sampling for laboratory investigations including hemoglobin (Hb) measurement. Non-invasive hemoglobin concentration monitoring is a potential solution, albeit not validated yet in patients with SCD. The primary objective of this study was to validate non-invasive pulse CO-oximetry based hemoglobin estimation in this patient population. Methods: We conducted a prospective observational study on patients with SCD admitted to the inpatient wards over 4 weeks in a tertiary care hospital. We estimated a spot Hemoglobin (Sp Hb) measurement using Masimo Pronto-7 Pulse CO-oximetry device (two measurements per patient) and compared it to a venous sample Hb (Reference Hemoglobin; Ref Hb) measured using Abbott CELL-DYN Sapphire hematology analyzer. We calculated Pearson correlation coefficient and coefficient of determination (R2). The multivariable linear regression model of predicting the estimation differences included age, gender, weight, height, blood pressure and reference hemoglobin. Results: We enrolled 98 patients (45 males, 53 females) with a mean age of 26 years (SD 8.8; 14–75) and a mean Ref Hb of 9.2 g/dL (SD 1.5; 5.3–13). The mean Sp Hb was 10.1 g/dL (SD 2.0; 5.3–14.5). The correlation coefficient between the Sp Hb and Ref Hb was 0.54 (R2 = 29%) with a mean difference of 0.9 g/dL (SD 1.7; −4.8 to 4.5). In the multivariable model, gender (p =0.042) and Ref Hb level (p=0.001) were statistically significant predictors for the difference in measurement. A strong correlation between the two CO-oximetry Hb measurements was obtained (correlation coefficient = 0.81, R2 = 65%). Conclusions: Our study demonstrated the validity of the CO-oximetry Hb measurement in adult patients with SCD. Larger prospective studies are needed to confirm our results. Disclosures: No relevant conflicts of interest to declare.

scholarly journals The Pattern of Sickle Cell Disease in Sickle Cell Patients from Northwestern Nigeria

2016 ◽  
Vol 8 ◽  
pp. CMT.S38164 ◽  
Author(s):  
Saganuwan Alhaji Saganuwan
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Genetic Disorder ◽  
Hematological Parameters ◽  
Clinical Signs ◽  
Renal Diseases ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Significant Difference

Sickle cell disease is caused due to a genetic disorder, which accounts for people dying at an early age in Nigeria. A retrospective study of sickle cell disease patients was carried out with a view to determining the disease pattern in sickle cell patients from the Northwestern Nigeria. Case notes of 319 sickle cell patients were collected and reviewed retrospectively. The prevalence of sickle cell trait, comorbidity of sickle cell disease and malaria, and the effects of sickle cell disease and age on the weight and hematological parameters of sickle cell patients were determined and analyzed. Results showed the prevalence rate of sickle cell trait to be 61.8% (197) and that of non-sickle cell trait to be 38.2% (122). The sickle cell trait comprised 96 males (48.7%) and 101 females (51.3%). Among these patients, 51 (41.8%) males and 71 (58.2%) females had malaria. However, 35.4% (113) of sickle cell patients and 7.5% (24) of malaria patients showed anemia. Genotyping revealed 32 AS (16.2%), 102 SS (51.8%), SS+F (3.6%), and 56 SC (28.4%). The associated prevalence rates of clinical signs were pain/crisis 45.1% (89), pneumonia 28.4% (56), gastric disorders 9.1% (18), central nervous system (CNS) disorders 4.1% (8), renal diseases 2.5% (5), musculo-skeletal disorders 2.5% (5), conjunctivitis 0.5% (1), acute chest syndrome 0.5% (1), cholecystitis 0.5% (1), hemophilia 0.5% (1), fever 0.5% (1), priapism 2.0% (4), splenomegaly 2.0% (4), and epistaxis 1.5% (3). Few patients lived up to 49 years. There was significant difference ( P < 0.05) in hematological parameters of the patients from various age groups. The use of anti-sickling, hematonic, analgesic, anti-inflammatory, and antimalarial drugs in the treatment of the affected disease in patients might have improved their quality of life.

scholarly journals Vascular endothelial dysfunction in sickle cell disease by brachial artery flow mediated dilatation

2014 ◽  
Vol 5 (3) ◽  
pp. 105-107 ◽  
Author(s):  
Pranav Kumar Raghuwanshi ◽  
Somnath Singh Raghuvanshi
Keyword(s):  
Endothelial Dysfunction ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Control Group ◽  
Cell Disease ◽  
Significant Difference ◽  
Flow Mediated Dilatation ◽  
Artery Flow ◽  
And Control

Objective: The present study was conducted aiming to assess endothelial function in sickle cell disease (SS), sickle cell trait(SA) and compare to endothelial dysfunction between sickle cell anemia (SS), sickle cell trait (SA) cases and control (AA) patients to evaluate correlation of endothelial dysfunction. Methods: The study population comprised of, total 25 cases having sickle cell disease and sickle cell trait and 25 age and sex matched normal control. Endothelial dysfunction as assessed by brachial artery flow mediated dilatation by colour Doppler (non-invasive method)by using Siemens Sonoline 500. Statistical analysis was performed using Software Statistical Package for Social Sciences (SPSS) version 20, and P value of less than 0.05 was considered as statistically significant at 95% confidence intervals. Results: Significant difference were observed in FMD (flow mediated vasodilatation) in case and control group (p<0.05), also significant difference was demonstrated between AS and SS group. Conclusion: The percentage of flow mediated dilatation of vessel is a marker of endothelial function was significantly lower in cases as compared to controls and was also lower in AS & SS when compared to control group & significantly lower in SS group than AS group. Asian Journal of Medical Science, Volume-5(3) 2014: 105-107 http://dx.doi.org/10.3126/ajms.v5i3.9445

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