Ask Hematologist | Understand Hematology
Everything you need to know about blood disorders
Langerhan’s Cell Histiocytosis (LCH), also called Histiocytosis X, is a group of diseases ranging from the relatively benign unifocal eosinophilic granuloma, to the multifocal variant, to the very malignant diffuse histiocytic infiltration previously known as the Letterer-Siwe syndrome which is frequently fatal. This disorder is characterized by an abnormal increase in certain immune cells called histiocyte cells. Histiocyte cells are […]
Read more
Gaucher’s Disease is an autosomal recessive condition most common in Jews. There is β-glucocerebrosidase deficiency causing deposition of glucocerebroside and related compounds, leading to hepatosplenomegaly, CNS changes and bony infiltration. Glucocerebrosidase normally hydrolyzes glucocerebroside to glucose and ceramide. Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells (with onion skin appearance). Accumulation of […]
Read more
Sea Blue Histiocytes are large lipid-containing histiocytes in the bone marrow which stain sea blue in color. They may be found in a rare autosomal dominant condition characterized by neurological impairment and splenomegaly. Sea-blue–colored histiocytes have been described in the setting of high rates of intramedullary cell death due to lipid storage diseases (e.g. Niemann-Pick disease), myelodysplastic syndromes (MDS), lymphomas, […]
Read more
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive primary immunodeficiency disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis and impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections, albinism, a bleeding tendency, and often progressive neurological disease. Chediak-Higashi syndrome was described over 50 years ago. Initially, […]
Read more
Chronic Granulomatous Disease (CGD) is a rare inherited disease that affects the immune system’s ability to fight off bacterial and fungal infections. Chronic Granulomatous Disease (CGD) is important as the study of the condition has helped understand the phagocyte oxidase system. Chronic Granulomatous Disease is caused by mutations in any one of the genes that code for the components of the […]
Read more
Lupus Erythematosus (LE) Cells are neutrophils that have engulfed lymphocyte nuclei coated with and denatured by antibody to nucleoprotein. The Lupus Erythematosus (LE) cell was so termed because of its exclusive presence in the bone marrow of 25 patients with confirmed or suspected SLE at the Mayo Clinic. The first three cases were children, the first a 9‐yr‐old with, very […]
Read more
Pelger-Huët anomaly is an autosomal dominant benign condition found in 1 in 6000 individuals. The characteristic leukocyte appearance was first reported in 1928 by Pelger, a Dutch hematologist, who described leukocytes with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin. In 1931 Huet, a Dutch pediatrician, identified it as an inherited disorder. […]
Read more
