scholarly journals Screening for Thalassemia in Healthy Population at a Tertiary Care Hospital in Eastern Nepal

2020 ◽  
Vol 9 (1) ◽  
pp. 41-45
Author(s):  
Manish Kumar Das ◽  
Niraj Nepal ◽  
Prabesh Chaudhary

Background: Thalassemia is a type of congenital anemia, where there is deficient synthesis of one or more type of globin subunits of normal hemoglobin. This study was undertaken with aims & objective to study the prevalence of thalassemia by comparing Red Blood Cell indices, Peripheral Blood Smear and Electrophoresis in adult volunteers. Material and Methods: The study comprised of 518 cases attending hematological department, who were enrolled in our study after proper informed consent, of which 462 cases were further studied. All cases were subjected to blood sampling for estimation of Hemoglobin, red cell indices and peripheral blood smear. Those samples where peripheral blood smear and Red cell indices were suggestive of thalassemia were subjected to Bio-Rad High Performance Liquid Chromatography based electrophoresis to observe the presence of any abnormal hemoglobin. Results: The mean age of screening sample was 42.91 ± 16.85 years with minimum age of 18 years and maximum age of 85 years. The highest number of cases was in between 21-30 years age groups (19.5%) followed by 41-50 years (17.7%). In the study group, 299 (64.7%) cases were male and 163 (35.3%) cases were female. The prevalence of anemia was found to be 48.16% in males and 68.71% in females with overall prevalence of 55.41%. On electrophoresis reports, 19 cases were diagnosed with thalassemia. The only thalassemia observed was thalassemia minor. The prevalence of thalassemia was found to be 4.11%. Conclusion: Significantly high prevalence of thalassemia minor is found in healthy population.

2018 ◽  
Vol 1 (1) ◽  
pp. 25-35
Author(s):  
Punam Paudyal ◽  
A Pradhan ◽  
S Pokharel ◽  
N Shah ◽  
B Pradhan ◽  
...  

 Background: Leukemia is a malignant neoplasm of the hematopoietic stem cells. Examination of the peripheral blood smear is an inexpensive but powerful diagnostic tool in both children and adults suffering from leukemia because it provides rapid, reliable access to information about a variety of hematologic disorders.Objectives: To study the various patterns of leukemia, clinicoepidemiological profile and hematological features of leukemia.Materials and Methods: This is a cross sectional study conducted in the Hematology section of Department of Pathology of a tertiary care hospital. This study included all consecutive cases of leukemia diagnosed by peripheral blood smear examination from 1st June 2013 to 30th May 2014. The demographic indices were noted in a proforma. Investigations including haemoglobin estimation, total leucocyte count and platelet count were done for the study of hematological features. The morphological sub-typing was done according to the FAB classification system for leukemia.Results: Out of total 52 cases, majority of cases were of acute leukemia (65.38%), followed by chronic leukemia (26.92%) and lymphoma spill/ acute leukemia (7.69%). The age range was 2 to 90 years. Mean age was 37.6 year. Majority were male. Mean hemoglobin count for AML and ALL was 6.8 and 5.3 gm/dl respectively.Conclusion: The finding of this study reflects the pattern of leukemia at BPKIHS. Majority of acute leukemia constituted of acute myeloid leukemia (36.53%) cases and majority of chronic leukemia constituted of chronic myeloid leukemia (17.30%) cases.Journal of BP Koirala Institute of Health Sciences, Vol. 1, No. 1, 2018, Page: 25-35


2021 ◽  
pp. 72-74
Author(s):  
Sarat Das ◽  
Prasanta Kr. Baruah ◽  
Sandeep Khakhlari ◽  
Gautam Boro

Introduction: Leukemias are neoplastic proliferations of haematopoietic stem cells and form a major proportion of haematopoietic neoplasms that are diagnosed worldwide. Typing of leukemia is essential for effective therapy because prognosis and survival rate are different for each type and sub-type Aims: this study was carried out to determine the frequency of acute and chronic leukemias and to evaluate their clinicopathological features. Methods: It was a hospital based cross sectional study of 60 patients carried out in the department of Pathology, JMCH, Assam over a period of one year between February 2018 and January 2019. Diagnosis was based on peripheral blood count, peripheral blood smear and bone marrow examination (as on when available marrow sample) for morphology along with cytochemical study whenever possible. Results: In the present study, commonest leukemia was Acute myeloid leukemia (AML, 50%) followed by Acute lymphoblastic leukemia (ALL 26.6%), chronic myeloid leukemia (CML, 16.7%) and chronic lymphocytic leukemia (CLL, 6.7%). Out of total 60 cases, 36 were male and 24 were female with Male:Female ratio of 1.5:1. Acute lymphoblastic leukemia was the most common type of leukemia in the children and adolescents. Acute Myeloid leukemia was more prevalent in adults. Peripheral blood smear and bone Conclusion: marrow aspiration study still remains the important tool along with cytochemistry, immunophenotyping and cytogenetic study in the diagnosis and management of leukemia.


2017 ◽  
Vol 9 (01) ◽  
pp. 001-004
Author(s):  
Sidra Asad ◽  
Imran Ahmed ◽  
Natasha Ali

ABSTRACT Background and Objective: With the advent of automated hematology analyzer, the use of traditional microscopy of blood film has become limited. The objective of our study was to determine the percentage of peripheral blood smear review in our institution in the era of automation and to identify reasons of manual review. Materials and Methods: This was a prospective audit from January 1, 2015, to January 15, 2015. Consecutive complete blood count (CBC) samples and peripheral smear requests made up the sample size. All age groups and genders were included. CBCs were performed on Sysmex XE-5000. The variables to be analyzed included inpatient and outpatient samples, frequency of peripheral film review, identifying reasons of smear review, and addition of information missed by the automated analyzer. Results: We analyzed 1200 consecutive CBC samples. Peripheral smear was reviewed in 500 (42%) of the cases of which, 241 were inpatient, and 259 were outpatient samples. In 384/500, the findings of hematology analyzer correlated with peripheral smear review. Flags identified included nucleated red blood cells (NRBCs) in 155 (40%), immature white blood cell (WBC) 129 (34%), and atypical lymphocytes 100 (26%). In 23% of the cases, the analyzer missed important findings. The sensitivity of abnormal histogram in our study was 91.3%, while the sensitivity of abnormal parameters was 100%. Conclusion: Peripheral smear review was performed in 42% of the cases. The analyzer identified NRBC, immature WBC precursors, and atypical lymphocytes as the most common abnormality. The information correlated in 77% of the cases.


Blood ◽  
1976 ◽  
Vol 47 (6) ◽  
pp. 919-922
Author(s):  
I Ben-Bassat ◽  
F Brok-Simoni ◽  
G Kende ◽  
F Holtzmann ◽  
B Ramot

Congenital hemolytic anemia associated with pyrimidine 5′-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.


Blood ◽  
1976 ◽  
Vol 47 (5) ◽  
pp. 827-832 ◽  
Author(s):  
B Tatsis ◽  
K Sofroniadou ◽  
CI Stergiopoulos

Abstract An electrophoretically fast-moving hemoglobin variant was found to be present together with hemoglobin S, in the hemolysate of the rythrocytes of at 3-yr-old Greek boy. Electrophoresis of the parents' erythrocyte hemolysates revealed that the father was an AS heterozygote, while the mother was a carrier of the variant hemoglobin. A sibling was also found to be a carrier. The amount of the mutant hemoglobin in the peripheral blood of the propositus, his mother, and his brother was 62.2%, 52.5%, and 51.1%, respectively, as determined by column chromatography. The patients peripheral blood smear showed mild anisocytosis, microcytosis, and hypochromia. Similar but less pronounced red cell abnormalities were found in the other two carriers. Structural analysis of the variant hemoglobin revealed substitution of an aspartic acid for the glycine residue at the beta83 (EF7) position. This new hemoglobin was named hemoglobin Pyrgos. All the carriers of hemoglobin Pyrgos are clinically healthy, and there seems to be no interaction between hemoglobin Pyrgos and hemoglobin S as manifested clinically.


Blood ◽  
1976 ◽  
Vol 47 (5) ◽  
pp. 827-832
Author(s):  
B Tatsis ◽  
K Sofroniadou ◽  
CI Stergiopoulos

An electrophoretically fast-moving hemoglobin variant was found to be present together with hemoglobin S, in the hemolysate of the rythrocytes of at 3-yr-old Greek boy. Electrophoresis of the parents' erythrocyte hemolysates revealed that the father was an AS heterozygote, while the mother was a carrier of the variant hemoglobin. A sibling was also found to be a carrier. The amount of the mutant hemoglobin in the peripheral blood of the propositus, his mother, and his brother was 62.2%, 52.5%, and 51.1%, respectively, as determined by column chromatography. The patients peripheral blood smear showed mild anisocytosis, microcytosis, and hypochromia. Similar but less pronounced red cell abnormalities were found in the other two carriers. Structural analysis of the variant hemoglobin revealed substitution of an aspartic acid for the glycine residue at the beta83 (EF7) position. This new hemoglobin was named hemoglobin Pyrgos. All the carriers of hemoglobin Pyrgos are clinically healthy, and there seems to be no interaction between hemoglobin Pyrgos and hemoglobin S as manifested clinically.


Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 5272-5272
Author(s):  
Cristina Vercellati ◽  
Anna Paola Maria Luisa Marcello ◽  
Elisa Fermo ◽  
Paola Bianchi ◽  
Carla Boschetti ◽  
...  

Abstract Abstract 5272 Pyruvate kinase (PK) deficiency, transmitted as an autosomal recessive trait, is the most common erythroenzymopathy of glycolytic pathway (prevalence of 1:20,000) associated with chronic non spherocytic hemolytic anemia from mild to severe. More than 180 mutations in the PK-LR gene have been so far reported, and genotype-phenotype correlation has been established for some of them. Hereditary Spherocytosis (HS) is the most common congenital hemolytic anemia in Caucasians, with an estimated prevalence ranging from 1:2000 to 1:5000. The main clinical features are hemolytic anemia from compensated to severe, variable jaundice, splenomegaly and cholelythiasis. The molecular defect is highly heterogeneous, caused by proteins involved in the attachment of cytoskeleton to the membrane integral domain (spectrin, ankyrin, band 3 and protein 4.2). We describe a case of PK deficiency associated with HS. The propositus was a 13 years-old Italian male with neonatal jaundice and need of blood transfusion (Hb 5.8 g/dL) during an infectious episode. At the time of the study Hb was 13.9 g/dL, MCV 81.8 fL, reticulocytes 207×109/L, unconjugated bilirubin 2.16 mg/dL, LDH 605 U/L, haptoglobin <20 mg/dL. The peripheral blood smear examination showed the presence of spherocytes (16%) and some ovalocytes (2%). The study of the most important red cell enzymes revealed reduced PK activity (59% of normal). Direct sequencing of PK-LR gene showed compound heterozygosity for the 994A mutation (Gly332Ser) and the −148T variant localized the erythroid specific promoter region. The presence of spherocytes in peripheral blood smear prompted us to investigate for the coexistence of HS. Erythrocyte osmotic fragility was decreased and SDS–PAGE analysis of red cell membrane proteins revealed a 30% spectrin reduction. Family study demonstrated a heterozygous condition for the 994A mutation in the father, who also displayed comparable enzyme deficiency, whereas promoter variant −148T was detected in the mother and in the brother. No red cell membrane abnormalities were present in the family members, although positive EMA binding test and increased osmotic fragility were found in the father and brother. The co-existence of HS and PK deficiency is very rare event, only few cases are described to date. Clinical, family and molecular studies allowed the determination of the interrelationship between the two RBC abnormalities in the patient and his relatives. The reduced PK activity in the propositus and his father is justified by heterozygous 994A mutation. The more severe clinical picture in the propositus could be caused by the coexistence of HS and by the presence of −148T mutation, that although it seems not to have effects on PK-LR mRNA expression, is often detected in PK deficient subjects with heterozygous PK mutations. Disclosures: No relevant conflicts of interest to declare.


2020 ◽  
Vol 7 (4) ◽  
pp. 694
Author(s):  
Patirla Devendra Reddy ◽  
Pranavendra Nath Seela ◽  
Pravin Gulab Rao Maske

Background: Objective of the study was to determine the prevalence of Isolated B12deficient dementia in patients presenting to a tertiary care hospital. The MMSE was much lower in B12 deficiency compared to irreversible causes Thus, shorter duration, severe dementia, focal neurological signs, and a vegetarian diet were significantly associated with the development of B12 deficiency.Methods: Based on exclusion and inclusion criteria 100 patients were included in this study, a detailed history of the patient were taken with respect to duration of dementia and its symptoms, type and treatment. Study in terms of the correlation of the clinical features with investigations and diet. Estimation of the prevalence of dementia with reference to B12 deficiency. Mean MMSE analysis, assessment of the improvement in MMSE after treatment with B12 injections after a6-8 wks period.Results: In this study most of our patients were in the 60-69 age groups across all causes of dementia, 22out of 26, B12 deficient patients were vegetarians. This value was in keeping with the known fact that a vegetarian diet predisposes a person to develop B12 deficiency. The association between B12 deficiency, high MCV and megaloblastic blood picture in peripheral blood smear was significant. The MMSE scores were significantly lower 13.42 in patients with B12 deficiency as compared to those with Alzheimer's 14.3 means and those with multi-infarct state 17.3 means.Conclusions: The duration of the presentation in B12 deficiency was10-12months averagely. There was a significant improvement in MMSE after treatment in pureB12 deficient patients (by 9 points) if they presented within one year of symptoms. Except for myelopathy, there was an improvement in other neurological symptoms and signs. Early diagnosis and proper treatment can make improvements in a patient's memory and quality of life.


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