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 […]
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Gaucher’s Disease is a rare genetic disorder that falls under the category of lysosomal storage diseases. Gaucher’s Disease is an autosomal recessive condition most common in Jews. Gaucher’s Disease is caused by mutations in the GBA gene, leading to deficient activity of the enzyme glucocerebrosidase. This deficiency results in the accumulation of glucocerebroside within macrophages, leading to the formation of […]
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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, […]
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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, […]
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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 […]
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Lupus Erythematosus (LE) Cells are neutrophils that have engulfed lymphocyte nuclei coated with and denatured by antibody to nucleoprotein. These cells were first described by Dr. Robert H. Heitzman in 1948, and they play a significant role in diagnosing systemic lupus erythematosus (SLE). The Lupus Erythematosus (LE) cell was so termed because of its exclusive presence in the bone marrow […]
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Pelger-Huët Anomaly (PHA) is a rare inherited blood disorder that affects the shape and function of white blood cells (WBCs). Pelger-Huët Anomaly is characterized by abnormal nuclear segmentation of neutrophils and other granulocytes, resulting in a bilobed or peanut-shaped nucleus instead of the normal trilobed shape. Although PHA is usually asymptomatic and benign, it can sometimes be associated with other […]
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