Evaluation of the Role of Flow Cytometry as a Diagnostic Tool for Hereditary Spherocytosis

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5381-5381
Author(s):  
Nalini K Pati ◽  
Mary M Sartor ◽  
Sue Wong ◽  
Adrienne Nemet ◽  
Kenneth Francis Bradstock
Keyword(s):  
Flow Cytometry ◽  
Family History ◽  
Haemolytic Anaemia ◽  
Peripheral Blood ◽  
Hereditary Spherocytosis ◽  
Positive Family History ◽  
Unknown Origin ◽  
Flow Cytometric ◽  
History Of ◽  
Normal Controls

Abstract Flow cytometric analysis of eosin-5′-maleimide-labeled red blood cells has been proposed as a method of identifying hereditary spherocytosis (HS). The flow cytometric test measures the fluorescence intensity of intact red cells labelled with the dye eosin-5-maleimide (EMA), which reacts covalently with Lys-430 on the first extra cellular loop of band 3 protein. Patients with HS have reduced fluorescence compared to other patient groups and normal controls. The aim of the present study was to assess the utility of flow cytometry in the diagnosis of hereditary spherocytosis. Fresh peripheral blood from 40 normal controls was collected in Lithium Heparin, stained with the dye EMA and analysed by flow cytometry. The normal range was established as 55–74 channel numbers. On 7 known cases of Hereditary Spherocytosis the MFI range was 35.6–44.6 channel numbers, and therefore samples falling into this range were considered to be positive for a diagnosis of HS by EMA. Equivocal results were defined when the MFI was in the range of 45–54 channel numbers. A total of 98 samples were sent for investigation or exclusion of HS. Clinical problems were grouped into the following categories: peripheral blood spherocytosis with negative Coomb’s test and no family history of HS, positive family history of HS, Neonatal hyperbilirubinaemia, haemolytic anaemia of unknown origin. Indications Coomb’s −ve, Spherocytosis, no FH (n=50) (51%) Positive family history (FH) (n=18) (17%) Neonatal hyperbilirubinemia (NNH) (n=8) (8%) Haemolytic anaemia (HA) (n=16) (17%) Results of EMA Pos Neg Equi Pos Neg Equi Pos Neg Equi Pos Neg Equi Number 19 17 13 9 7 2 2 4 2 0 14 2 Percentage 38 34 26 50 39 11 25 50 25 0 87.5 12.5 Within this cohort the group with FH of HS had the highest positive and least equivocal results. The group with suspected HS (peripheral blood spherocytosis with negative coomb’s test) resulted in positive in 38% and equivocal in 26% cases. The group with NNH had positive results in 25% of cases and the group with HA had no positive results. Equivocal results occurred in 20% of cases suggesting further investigations are required to confirm or exclude HS. The EMA dye method by flow cytometry is a useful test for diagnosing red cell membrane abnormalities due to band 3 defects, but the assay produces a substantial number of equivocal results, and has poor utility in the investigation of haemolytic anaemia of unknown origin.

scholarly journals Hereditary Spherocytosis in a 22 Month Old Child

2018 ◽  
Vol 30 (2) ◽  
pp. 79-82
Author(s):  
Mst Musarrat Sultana ◽  
Md Shafiqul Islam ◽  
Md Sanaul Haque Mia
Keyword(s):  
Family History ◽  
Hereditary Spherocytosis ◽  
Positive Family History ◽  
Osmotic Fragility ◽  
Blood Film ◽  
College Hospital ◽  
Negative Family History ◽  
Medical College ◽  
Antiglobulin Test ◽  
History Of

Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some case. A 22-month old girl was admitted in Rajshahi Medical College Hospital with pallor and jaundice. Her parents gave history of repeated episodes of pallor and jaundice since 8 month of age with negative family history. Blood film showed plenty of spherocytes, reticulocytosis of 15.0%, negative direct antiglobulin test& positive osmotic fragility test. She was managed conservatively on nutritional supplements& one unit of blood transfusion. To the best of our knowledge, this is the first reported case of hereditary spherocytosis from Rajshahi Medical College Hospital.TAJ 2017; 30(2): 79-82

scholarly journals Flow Cytometric, Morphologic, and Laboratory Comparative Study in Patients With Leukocytosis and Cytopenia

2019 ◽  
Vol 153 (2) ◽  
pp. 266-273
Author(s):  
Estafani Rivas ◽  
Fred V Plapp ◽  
Wei Cui
Keyword(s):  
Flow Cytometry ◽  
Peripheral Blood ◽  
Screening Test ◽  
Hematologic Malignancy ◽  
Cost Effective ◽  
Effective Screening ◽  
Flow Cytometric ◽  
Blood Smears ◽  
History Of ◽  
Peripheral Blood Smears

Abstract Objectives We wanted to evaluate the effectiveness of flow cytometry immunophenotyping (FCI) as a screening test for patients with leukocytosis and cytopenia. Methods We identified 320 patients during August 2016 to December 2016 and evaluated FCI and morphology of peripheral blood smears (PBSs). Results The most common indications for FCI included history of hematologic malignancy (HHM, n = 126), leukocytosis (n = 80), and cytopenia (n = 53). Positive FCI rate was low with a range of 4.4% to 12.5% in patients with absolute neutrophilia regardless of HHM, if cases with circulating blasts were excluded. Patients with absolute lymphocytosis had a 93% positive FCI rate. Patients with HHM and pancytopenia showed a higher incidence of positive FCI findings than patients without HHM and with isolated cytopenia. PBS morphology correlated strongly with FCI (P = .0001). Conclusion PBS evaluation is an accurate and cost-effective screening test. FCI for patients with mature neutrophilia and isolated cytopenia has a very low yield.

Family History and Cerebral Ventricular Enlargement in Schizophrenia

1989 ◽  
Vol 154 (5) ◽  
pp. 629-634 ◽  
Author(s):  
Michael J. Owen ◽  
Shôn W. Lewis ◽  
Robin M. Murray
Keyword(s):  
Family History ◽  
Affective Disorder ◽  
Positive Family History ◽  
Ventricular Enlargement ◽  
Ventricular Size ◽  
Degree Relative ◽  
Distinct Subgroup ◽  
Schizophrenic Patients ◽  
History Of ◽  
Normal Controls

Ventricular size was measured from CT scans in 48 patients meeting RDC for schizophrenia who had a first-degree relative with a history of treatment for major psychiatric disorder, in 48 age- and sex-matched schizophrenic patients with no such history in first- or second-degree relatives, and in 48 matched, healthy controls. There was no difference in ventricular size between those with and without a positive family history, although both groups showed ventricular enlargement with respect to normal controls. Ventricular enlargement was demonstrated in the subgroup of 23 patients with a family history of schizophrenia, but not in the subgroup of 18 patients with a family history of affective disorder. These observations provide further evidence that schizophrenics with a family history of affective disorder may constitute an aetiologically distinct subgroup.

scholarly journals The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Diabetes Duration ◽  
Family History Of Diabetes ◽  
Thyroid Cancer Risk ◽  
History Of ◽  
Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

scholarly journals Differential expression of micro RNA-29 family in non-diabetic adults of diabetic and non-diabetic parents

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Cross Sectional Study ◽  
Vital Role ◽  
Micro Rna ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
History Of

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).

A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

Levels of anxiety, depression and denial in patients with myocardial infarction

1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Intensive Care Unit ◽  
Family History ◽  
Positive Family History ◽  
Anxiety And Depression ◽  
Previous Myocardial Infarction ◽  
History Of ◽  
Seeking Help ◽  
Anxiety Depression

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.

Blood Pressure and Intra-Erythrocyte Sodium during Normal and High Salt Intake in Middle-Aged Men: Relationship to Family History of Hypertension, and Neurogenic and Hormonal Variables

1984 ◽  
Vol 66 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Ottar Gudmundsson ◽  
Hans Herlitz ◽  
Olof Jonsson ◽  
Thomas Hedner ◽  
Ove Andersson ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Family History ◽  
Salt Intake ◽  
Sodium Intake ◽  
Positive Family History ◽  
Sodium Content ◽  
High Salt Intake ◽  
History Of ◽  
Family History Of Hypertension ◽  
Erythrocyte Sodium

1. During 4 weeks 37 normotensive 50-year-old men identified by screening in a random population sample were given 12 g of NaCl daily, in addition to their usual dietary sodium intake. Blood pressure, heart rate, weight, urinary excretion of sodium, potassium and catecholamines, plasma aldosterone and noradrenaline and intra-erythrocyte sodium content were determined on normal and increased salt intake. The subjects were divided into those with a positive family history of hypertension (n = 11) and those without such a history (n = 26). 2. Systolic blood pressure and weight increased significantly irrespective of a positive family history of hypertension. 3. On normal salt intake intra-erythrocyte sodium content was significantly higher in those with a positive family history of hypertension. During high salt intake intra-erythrocyte sodium content decreased significantly in that group and the difference between the hereditary subgroups was no longer significant. 4. In the whole group urinary excretion of noradrenaline, adrenaline and dopamine increased whereas plasma aldosterone decreased during the increased salt intake. 5. Thus, in contrast to some earlier studies performed in young subjects, our results indicate that moderately increased sodium intake acts as a pressor agent in normotensive middle-aged men whether there was a positive family history of hypertension or not. We confirm that men with positive family history of hypertension have an increased intra-erythrocyte sodium content, and that an increase in salt intake seems to increase overall sympathetic activity.

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