scholarly journals Hematological Profiles in Hemoglobinopathy Patients in South Western Nepal

2020 ◽  
Vol 8 (1) ◽  
pp. 27-32
Author(s):  
Narayan Gautam ◽  
Archana Jayan ◽  
Raju Kumar Dubey ◽  
Amit Chandra Jha ◽  
Sunkeshari Deshar ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Hematological Parameters ◽  
Cold Chain ◽  
Cellulose Acetate Electrophoresis ◽  
Significant Difference ◽  
Haematological Profile ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Community Dwellers

INTRODUCTION: Homozygous inheritance of the hemoglobin results in sickle cell anemia (SCA), heterozygous inheritance results in sickle cell trait (SCT). Sickle cell anemia and β-thalasemia (β-TT) have been a major health threat for the tharu living in the South-Western Terai of  Nepal. This study is carried out to apply and optimise the phenotypic method and haematological profile to characterise the SCT, SCA and β-TT from suspected tharu community dwellers. MATERIAL AND METHODS: We enrolled 100 suspected cases of hemoglobinopathies of 12-14 years children and ≥15 years adults tharu community dwellers from Dang, Kapilvastu, Nepalgunj, Rupandehi and Nawalparasi of South-Western Nepal from May 2018 to November 2018. Five mililitre of blood was collected in EDTA vial and transported to the laboratory maintaining cold chain. The hematological profile was recorded after investigations. The hemolysate from blood samples were subjected to phenotypic testing by adopting cellulose acetate electrophoresis at pH 8.6. RESULTS: Our result showed the commonest hemoglobinopathy was SCT (38%) followed by β-TT (21%) and SCA (5%). Males were more affected with SCA (60%) while that of females were most affected with β-TT (57.1%). Only 44.7% females were affected with SCT while 42.9% males were affected with β-TT. The significant difference in mean was observed in Hb level (p=0.0001), RBC (p=0.004), MCHC (p=0.015) and RDW (p=0.028) whereas the non-significant difference in mean was observed for glucose 6 phosphate dehydrogenase (G6PD) level (p=0.063) in hemoglobinopathy patients. CONCLUSION: Most cases develop severe type of anemia as shown by change in hematological parameters. This information could advocate for timely counselling before constellation of associated condition appeared in hemoglobinopathy patients.

scholarly journals Glucose 6 phosphate dehydrogenase deficiency and hemoglobinopathy in South Western Region Nepal: a boon or burden

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P. Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3%) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

scholarly journals Clinical and Hematological Evaluation of Patients with Sickle Cell Anemia Before and After Four Years of Using Hydroxyurea

10.3823/2469 ◽  
2017 ◽  
Vol 10 ◽  
Author(s):  
Ieda Maria Gonçalves Pacce Bispo ◽  
Maria Lúcia Ivo ◽  
Valter Aragão do Nascimento ◽  
Alexandra Maria Almeida Carvalho de Pinto ◽  
Olinda Maria Rodrigues de Araújo ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Hematological Parameters ◽  
Fetal Hemoglobin ◽  
Hemoglobin Concentration ◽  
Teaching Hospitals ◽  
Acute Chest Syndrome ◽  
Mean Values ◽  
Significant Difference ◽  
Before And After

Objective: Evaluating clinical and hematological-clinical parameters of patients with sickle cell anemia (SCA) before and after four years of using hydroxyurea (HU).  Method: A retrospective cohort study implementing a quantitative, descriptive and analytical approach developed in two public teaching hospitals located in the Central-West region of Brazil, from November 2010 to October 2011. Data collection was performed through medical records of 32 patients with SCA to assess clinical and hematological parameters before and after HU treatment. The study was approved by the UFMS Ethics Committee under protocol number 1890/2010. Results: All of the 32 patients were homozygous with a mean age in the prescription of hydroxyurea of 19.72±7.58 years, an initial dose of 15.59±4.27 mg/kg/day, and 22.48±5.35 mg/kg/day in the fourth year of treatment. Regarding the use of HU, average values of some hematological parameters presented a significant difference in the fourth year compared to the mean values prior to HU use, such as fetal hemoglobin (14.49±7.52%), red blood cells (2.54±0.38x1012/L), hematocrit (25.30±4.03%) and hemoglobin (9.22±3.34g/dL).  Conclusion: Treatment with hydroxyurea showed a significant increase in fetal hemoglobin levels, increased hemoglobin, hematocrit and average corpuscular hemoglobin concentration, with reduced episodes of pain, infection and acute chest syndrome in such a way as to reaffirm its efficiency in treating these patients. Keywords: Hemoglobin; Sickle Cell Anemia; Hydroxyurea.

scholarly journals Glucose 6 Phosphate Dehydrogenase Deficiency and Hemoglobinopathy in South Western Region Nepal: A Boon or Burden

2019 ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

scholarly journals Glucose 6 Phosphate Dehydrogenase Deficiency and Hemoglobinopathy in South Western Region Nepal: A Boon or Burden

2019 ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

scholarly journals Glucose 6 Phosphate Dehydrogenase Deficiency and Hemoglobinopathy in South Western Region Nepal: A Boon or Burden

2019 ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

scholarly journals Glucose 6 Phosphate Dehydrogenase Deficiency and Hemoglobinopathy in South Western Region Nepal: A Boon or Burden

2019 ◽  
Author(s):  
Narayan Gautam ◽  
Bhagwati Gaire ◽  
Trishna Manandhar ◽  
Bishnu P Marasini ◽  
Niranjan Parajuli ◽  
...  
Keyword(s):  
Sickle Cell ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Amplification Refractory Mutation System ◽  
Cellulose Acetate Electrophoresis ◽  
Positive Trait ◽  
Arms Pcr ◽  
Phenotypic Method ◽  
Mutation System ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.

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.

ACTIVITY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN ERYTHROCYTES OF PATIENTS WITH VARIOUS ABNORMAL HEMOGLOBINS

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 285-292
Author(s):  
Jean Naylor ◽  
Ira Rosenthal ◽  
Aaron Grossman ◽  
Irving Schulman ◽  
David Yi-Yung Hsia
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Clinical Course ◽  
Sickle Cell Trait ◽  
Survival Times ◽  
Negro Population ◽  
Normal Stability ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Reduced Activity ◽  
Enzymatic Defect

In 99 patients with sickle cell anemia and 100 normal Negro children, the activity of glucose-6-phosphate dehydrogenase in erythrocytes was determined. Hemoglobinopathies may be combined with reduced activity of glucose-6-phosphate dehydrogenase in the erythrocytes. The two defects are inherited independently. The incidence of the enzymatic defect in the erythrocytes of those with sickle cell anemia in this series does not differ from that of a similar Negro population having normal hemoglobin. There appears to be no significant effect of the enzymatic defect in the erythrocytes on the clinical course of patients with sickle cell anemia or survival times of their erythrocytes. Patients with sickle cell anemia and with normal stability of the glutathione in the erythrocytes have significantly higher levels of G6PD than controls or patients with sickle cell trait.

PATHOGENESIS OF HYPOSTHENURIA IN PERSONS WITH SICKLE CELL ANEMIA OR THE SICKLE CELL TRAIT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 249-254
Author(s):  
L. Schlitt ◽  
H. G. Keitel
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Damage ◽  
Sickle Cell Trait ◽  
Urinary Concentration ◽  
Cell Disease ◽  
Renal Vessels

Hyposthenuria was investigated in subjects with sickle cell trait and in patients with sickle cell anemia. The following were observed: 1) in subjects with sickle cell trait both normal and reduced maxima of urinary concentration are found, whereas all untreated patients with sickle cell anemia over 6 months of age have hyposthenuria; 2) hyposthenuria becomes increasingly more severe with advancing age in both sickle cell anemia and sickle cell trait; 3) in a 6-month-old patient with sickle cell anemia and hyposthenuria, the maxima of urinary concentration returned to normal after two transfusions of normal erythrocytes. Reasons are presented for favoring the hypothesis that hyposthenuria in sickle cell disease is due to renal damage, possibly from intravascular sickling of erythrocytes in renal vessels or from the presence of "free" circulating S-hemoglobin.

scholarly journals Hematological and Genetic Predictors of Daytime Hemoglobin Saturation in Tanzanian Children with and without Sickle Cell Anemia

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Sharon E. Cox ◽  
Julie Makani ◽  
Charles R. Newton ◽  
Andrew M. Prentice ◽  
Fenella J. Kirkham
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Clinical Chemistry ◽  
Pearson Correlation ◽  
Transferrin Saturation ◽  
Full Blood Count ◽  
Hemoglobin F ◽  
Hemoglobin Saturation ◽  
Highly Correlated ◽  
Glucose 6 Phosphate Dehydrogenase

Low hemoglobin oxygen saturation (SpO2) is common in Sickle Cell Anemia (SCA) and associated with complications including stroke, although determinants remain unknown. We investigated potential hematological, genetic, and nutritional predictors of daytime SpO2 in Tanzanian children with SCA and compared them with non-SCA controls. Steady-state resting pulse oximetry, full blood count, transferrin saturation, and clinical chemistry were measured. Median daytime SpO2 was 97% (IQ range 94–99%) in SCA (N = 458), lower () than non-SCA (median 99%, IQ range 98–100%; N = 394). Within SCA, associations with SpO2 were observed for hematological variables, transferrin saturation, body-mass-index z-score, hemoglobin F (HbF%), genotypes, and hemolytic markers; mean cell hemoglobin (MCH) explained most variability (, Adj ). In non-SCA only age correlated with SpO2. -thalassemia 3.7 deletion highly correlated with decreased MCH (Pearson correlation coefficient 0.60, ). In multivariable models, lower SpO2 correlated with higher MCH (-coefficient 0.32, ) or with decreased copies of -thalassemia 3.7 deletion (-coefficient 1.1, ), and independently in both models with lower HbF% (-coefficient 0.15, ) and Glucose-6-Phosphate Dehydrogenase genotype (-coefficient 1.12, ). This study provides evidence to support the hypothesis that effects on red cell rheology are important in determining SpO2 in children with SCA. Potential mechanisms and implications are discussed.

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