Laboratory approach to hemolytic anemia

M Jamwal, P Sharma, R Das - The Indian Journal of Pediatrics, 2020‏ - Springer
Hemolytic anemias are a group of disorders with varied clinical and molecular
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …

Old and new insights into the diagnosis of hereditary spherocytosis

O Ciepiela - Annals of translational medicine, 2018‏ - pmc.ncbi.nlm.nih.gov
Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias
resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the …

Advances in laboratory diagnosis of hereditary spherocytosis

MG Farias - Clinical Chemistry and Laboratory Medicine (CCLM), 2017‏ - degruyter.com
Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most
common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction …

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: first South Asian study

A Aggarwal, M Jamwal, P Sharma… - British Journal of …, 2020‏ - Wiley Online Library
Defects in various erythrocyte membrane proteins genes (ankyrin, band‐3, β‐and α‐spectrin
and protein 4· 2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of …

Flow cytometric osmotic fragility test and eosin‐5'‐maleimide dye‐binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary …

RD Arora, J Dass, S Maydeo, V Arya… - International Journal …, 2018‏ - Wiley Online Library
Introduction Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia
with heterogeneous clinico‐laboratory manifestations. We evaluated the flow‐cytometric …

Overview on hereditary spherocytosis diagnosis

A Polizzi, LP Dicembre, C Failla… - International Journal …, 2025‏ - Wiley Online Library
Introduction Hereditary spherocytosis (HS) is a congenital haemolytic disorder, resulting
from plasma membrane protein deficiency of red blood cells (RBCs). Typical pathological …

[HTML][HTML] Next-generation sequencing–based diagnosis of unexplained inherited hemolytic anemias reveals wide genetic and phenotypic heterogeneity

M Jamwal, A Aggarwal, A Palodhi, P Sharma… - The Journal of Molecular …, 2020‏ - Elsevier
Determination of the cause of inherited hemolysis is based on clinical and stepwise
conventional laboratory tests. Patients with obscure etiology require genetic diagnosis …

Screening tools for hereditary hemolytic anemia: new concepts and strategies

E Fermo, C Vercellati, P Bianchi - Expert review of hematology, 2021‏ - Taylor & Francis
Introduction Hereditary hemolytic anemias are a group of rare and heterogeneous disorders
due to abnormalities in structure, metabolism, and transport functions of erythrocytes; they …

[HTML][HTML] Optimal reference gene selection for expression studies in human reticulocytes

A Aggarwal, M Jamwal, GK Viswanathan… - The Journal of Molecular …, 2018‏ - Elsevier
Reference genes are indispensable for normalizing mRNA levels across samples in real-
time quantitative PCR. Their expression levels vary under different experimental conditions …

Facilitating EMA binding test performance using fluorescent beads combined with next‐generation sequencing

A Glenthøj, C Brieghel, A Nardo‐Marino, R van Wijk… - …, 2021‏ - Wiley Online Library
Abstract The eosin‐5′‐maleimide (EMA) binding test is widely used as diagnostic test for
hereditary spherocytosis (HS), one of the most common haemolytic disorders in Caucasian …