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 …

Inherited macrothrombocytopenia: correlating morphology, epidemiology, molecular pathology and clinical features

K Ghosh, M Bhattacharya, R Chowdhury… - Indian Journal of …, 2018‏ - Springer
Inherited macrothrombocytopenia is increasingly being recognized as a relatively common
condition. This descriptive review aims at focusing on the different areas of advancement …

[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 …

Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

SP Guay, M Paquette, C Blais, G Gosse… - JCEM Case …, 2024‏ - academic.oup.com
Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of
phytosterols and their accumulation in blood and tissues. Clinically, it can present with …

Pediatric patients with familially inherited sitosterolemia: Two case reports

SQ Su, DS **ong, XM Ding, JA Kuang… - Frontiers in …, 2022‏ - frontiersin.org
Background Sitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is
characterized by increased levels and accumulation of sitosterol in the plasma and local …

Macrothrombocytopenia: role of automated platelet data in diagnosis

A Bhola, R Garg, A Sharma, N Gupta… - Indian Journal of …, 2023‏ - Springer
Purpose Inherited macrothrombocytopenia is an underdiagnosed condition and may result
in misdiagnosis and inappropriate management. This research was done to study this …

[HTML][HTML] Sitosterolemia

SB Myrie, RD Steiner, D Mymin - 2020‏ - europepmc.org
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1)
shows an unexpected significant lowering of plasma cholesterol level in response to low-fat …

Sitosterolemia: four cases of an uncommon cause of hemolytic anemia (Mediterranean stomatocytosis with macrothrombocytopenia)

SR Desai, A Korula, UP Kulkarni, AA Menon… - Indian Journal of …, 2021‏ - Springer
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder that is
characterized by hyper absorption of plant sterols from the intestinal mucosa leading to toxic …

Prevalence of macrothrombocytopenia in healthy college students in western India

P Patel, A Shah, K Mishra, K Ghosh - Indian Journal of Hematology and …, 2019‏ - Springer
Macrothrombocytopenia is being increasingly described across the globe. There is paucity
of data on the prevalence of this condition from different parts of India. 10,047 healthy …

Molecular genetics of inherited red cell membrane disorders

A Aggarwal, M Jamwal, R Das - Hematopathology: Advances in …, 2019‏ - Springer
Inherited red cell membrane disorders constitute a diverse group of disorders which are
characterized by wide clinical and molecular heterogeneity. They are nonimmune hereditary …