Anu Aggarwal
Chandigarh, CH, India
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.
Journal: Pediatric blood & cancer
Published: January 23, 2021
Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys: first report in an Indian infant.
Journal: Annals of hematology
Published: February 12, 2020
Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.
Journal: Blood cells, molecules & diseases
Published: November 27, 2019
Next-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity.
Journal: The Journal of molecular diagnostics : JMD
Published: July 26, 2019
A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.
Journal: British journal of haematology
Published: May 24, 2019
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
Journal: British journal of haematology
Published: May 06, 2019
Overhydrated stomatocytosis associated with a complex RHAG genotype including a novel de novo mutation.
Journal: Journal of clinical pathology
Published: January 17, 2018
Optimal Reference Gene Selection for Expression Studies in Human Reticulocytes.
Journal: The Journal of molecular diagnostics : JMD
Published: September 07, 2017
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 24, 2017
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 06, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026