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 …

[HTML][HTML] Diagnostic approaches for inherited hemolytic anemia in the genetic era

Y Kim, J Park, M Kim - Blood research, 2017‏ - synapse.koreamed.org
Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the
increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified …

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female …

C Fu, S Luo, Q Li, B **e, Q Yang, G Geng, C Lin, J Su… - Scientific reports, 2018‏ - nature.com
The aim of this study is to assess the disease incidence and mutation spectrum of glucose-6-
phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an …

PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational …

L Swint-Kruse, LL Dougherty, B Page, T Wu… - Database, 2023‏ - academic.oup.com
Interpreting changes in patient genomes, understanding how viruses evolve and
engineering novel protein function all depend on accurately predicting the functional …

Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases

E Fermo, C Vercellati, AP Marcello, A Zaninoni… - Frontiers in …, 2019‏ - frontiersin.org
Glucose-6-phosphate isomerase (GPI, EC 5.3. 1.9) is a dimeric enzyme that catalyzes the
reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second …

[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 …

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias

B Fattizzo, JA Giannotta, N Cecchi… - Orphanet Journal of Rare …, 2021‏ - Springer
Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane
proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis …

Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p. Ala337Thr) novel mutation in GPI gene in two …

PS Kedar, V Gupta, R Dongerdiye… - Journal of Clinical …, 2019‏ - jcp.bmj.com
Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic
disorder causing congenital haemolytic anaemia (CHA). Diagnosis of GPI deficiency by the …

Glucose phosphate isomerase deficiency: high prevalence of p. Arg347His mutation in indian population associated with severe hereditary non-spherocytic hemolytic …

PS Kedar, R Dongerdiye, P Chilwirwar, V Gupta… - The Indian Journal of …, 2019‏ - Springer
Abstract Objectives Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal
recessive genetic disorder causing hereditary non-spherocytic hemolytic anemia (HNSHA) …

Oxidation resistance 1 modulates glycolytic pathways in the cerebellum via an interaction with glucose-6-phosphate isomerase

MJ Finelli, T Paramo, E Pires, BJ Ryan… - Molecular …, 2019‏ - Springer
Glucose metabolism is essential for the brain: it not only provides the required energy for
cellular function and communication but also participates in balancing the levels of oxidative …