Rare hematopoiesis. Medical search. Frequent questions

This worsened and at the age of 26 we discovered that I had developed Extramedullary Haematopoiesis (EMH) in my spine. (ukts.org)

We are very excited by these new data with ALN-TMP where we have demonstrated disease modifying effects in models of β-thalassemia, including amelioration of anemia, iron overload, extra-medullary hematopoiesis, and ineffective erythropoiesis, in addition to correction of globin gene expression. (aol.com)
Indeed, our studies show that ALN-TMP administration results in reduced iron overload, decreased extra-medullary hematopoiesis, increased hemoglobin levels, and a reduction in ineffective erythropoiesis. (aol.com)

Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been associated with ageing and adverse health outcomes 1-5 . (nih.gov)
Here we use exome sequence data on 628,388 individuals to identify 40,208 carriers of clonal haematopoiesis of indeterminate potential (CHIP). (nih.gov)
2. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. (nih.gov)
8. The role of clonal haematopoiesis in cardiovascular diseases: epidemiology and experimental studies. (nih.gov)
9. Clonal haematopoiesis of indeterminate potential and cardiovascular events in systemic lupus erythematosus (HEMATOPLUS study). (nih.gov)
10. Clonal haematopoiesis and cardiovascular diseases: A growing relationship. (nih.gov)

Clonal hematopoiesis (CH) refers to recurrent somatic mutations in leukemia-associated genes that are commonly acquired in aging human hematopoietic stem cells. (medscape.com)
7. Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease. (nih.gov)
However, there are rare cases of primary myelofibrosis in which none of these three mutations are present (triple negative primary myelofibrosis). (msdmanuals.com)
Mutations at the DNMT3A R882 hotspot are common in clonal hematopoiesis (CH), an aging-related condition in which blood stem cells undergo clonal expansion. (genomeweb.com)
RESULTS Detectable somatic mutations were rare in persons younger than 40 years of age but rose appreciably in frequency with age. (iucc.ac.il)
Clonal hematopoiesis is also an age-related event that occurs when blood stem cells acquire genetic mutations that make them divide more rapidly than normal. (mayoclinic.org)
U2AF1 mutations can affect the expression of specific genes and contribute to the emergence of clonal hematopoiesis in a way that is unique to these patients," says Alejandro Ferrer, Ph.D. , a Mayo Clinic hematology researcher. (mayoclinic.org)
We are particularly interested in a rare subset of leukaemias cause by mutations in the Mixed Lineage Leukaemia (MLL) gene that cause incurable leukaemias in children. (ox.ac.uk)

3. Association of Clonal Hematopoiesis of Indeterminate Potential With Inflammatory Gene Expression in Patients With Severe Degenerative Aortic Valve Stenosis or Chronic Postischemic Heart Failure. (nih.gov)
Additionally, given the known increased thrombotic risk in patients with clonal hematopoiesis of indeterminate potential, we also hypothesized that the risk of thrombosis is greatest in HES patients with evidence of an underlying clonal process. (confex.com)

2 1 The common clinical presentations associated with MF include splenomegaly due to extramedullary hematopoiesis, progressive bone marrow fibrosis with cytopenias, and debilitating constitutional symptoms (e.g., fatigue, night sweats, and fever), which substantially diminish the quality of life. (haematologica.org)
It is characterized by bone marrow fibrosis, extramedullary hematopoiesis with hepatosplenomegaly and leukoerythroblastosis in the peripheral blood. (symptoma.com)

Spleen - Extramedullary hematopoiesis, Increased or Spleen - Extramedullary hematopoiesis, Decreased). (nih.gov)
Spleen, Red pulp - Extramedullary hematopoiesis, Increased in a treated male B6C3F1/N mouse from a chronic study. (nih.gov)
Myelofibrosis is a reactive, reversible increase in bone marrow collagen often with extramedullary hematopoiesis (primarily in the spleen). (msdmanuals.com)
Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. (medlineplus.gov)
This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). (medlineplus.gov)
If extramedullary hematopoiesis develops, the liver and spleen become enlarged, a condition known as hepatosplenomegaly . (symptoma.com)

Mesna has been administered at doses from 70 to 100 mg/kg without any toxic effect on hematopoiesis, hepatic and renal function or the CNS. (rxmed.com)

Understanding the impact of rare variants is essential to understanding human health. (nature.com)
Because the power to identify statistically significant rare variant associations decreases as the MAF decreases, discovery analyses require that these rare variants be grouped together in some way. (nature.com)
This study suggests that cancer penetrance in individuals with LFS due to pathogenic germline TP53 variants may be influenced by additional genetic or epigenetic modifiers, whereas rare TP53 variants may be associated with cancer family history patterns that do not meet clinical criteria for LFS. (nih.gov)
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. (medgen-journal.ru)

Congenital dyserythropoietic anemias (CDAs) are a group of rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of the erythroblasts in the bone marrow [ 1 ]. (biomedcentral.com)

After using our rare-variant-tailored methodology to reduce test statistic inflation, we identify 64 statistically significant gene-based associations in our meta-analysis of the two cohorts and 37 for phenotypes available in only one cohort. (nature.com)

CONCLUSIONS Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly due to an increased risk of cardiovascular disease. (iucc.ac.il)
Idiopathic hypereosinophilia and hypereosinophilic syndrome (HES) comprise a rare, heterogeneous group of hematologic disorders characterized by the overproduction of eosinophils leading to tissue eosinophilic infiltration and damage. (confex.com)
Dr. Hoatlin is a member of the strategic planning leadership for OHSU's School of Medicine, the Hematologic Malignancies Program, advisory board member of the Oregon Translational Research and Development Institute, and founding co-chair of the OHSU Rare Disease Consortium. (openwetware.org)

1 Splenomegaly , in particular, is the result of extramedullary hematopoiesis. (symptoma.com)

The diagnosis of extramedullary hematopoiesis should be modified as increased or decreased (i.e. (nih.gov)
7. Acquired Perforating Osteoma Cutis: A Rare Histopathological Diagnosis. (nih.gov)

[ 11 ] Nevertheless, we felt confident that the hepatosplenomegaly and deranged blood counts represented extramedullary hematopoiesis. (medscape.com)
This leads to numerous symptoms, including narrowing of the intramedullary space that impinges on the bone marrow, with compensatory extramedullary hematopoiesis that manifests as hepatosplenomegaly and leukoerythroblastic anemia. (medscape.com)

The maintenance of normal hematopoiesis conditions, and ultimately normal immune system function, is dependent upon HSCs. (uwm.edu)
The importance of functional HSCs on immune system function has resulted in the development of a growing spectrum of ex vivo systems to model hematopoiesis optimized for an array of biotechnological applications including toxicological assessments, clinical research, and pharmaceutical development. (uwm.edu)

In primary myelofibrosis, nucleated red blood cells (normoblasts) and myelocytes are released into the circulation (leukoerythroblastosis) when there is extramedullary hematopoiesis (ie, non-marrow organs have taken over blood cell production because of the fibrosed marrow). (msdmanuals.com)

This work is an example of how rare disease research that brings in RNA silencing technologies to 'target the untargetable' could rapidly lead to therapies for more common disorders,' said Mark Fleming, M.D., D.Phil. (aol.com)
In a recent study, Mayo Clinic researchers examined telomere biology disorders, a group of rare genetic disorders characterized by short telomeres. (mayoclinic.org)
Mayo Clinic researchers explored the causes of this increased cancer risk by assessing clonal hematopoiesis in patients with telomere biology disorders. (mayoclinic.org)
The study found that people with telomere biology disorders often have a high percentage of clonal hematopoiesis. (mayoclinic.org)

Her basic laboratory research on stem cells led to a clinical trial of the drug eltrombopag for the treatment of patients with severe aplastic anemia, a rare and potentially fatal blood disorder in which the body's bone marrow fails to make enough new blood cells. (nih.gov)
Severe extramedullary hematopoiesis can disturb the function of organs in which it occurs, including the brain. (msdmanuals.com)

At the time this was incredibly worrying, however, it was successfully eradicated by a group of the expert doctors coming together to discuss and prescribe a rare treatment of radiation therapy and hyper transfusions to me. (ukts.org)

Myelofibrosis (MF) is a rare, chronic, Philadelphia chromosome-negative myeloproliferative neoplasm caused by clonal proliferation of pluripotent hematopoietic stem cells. (haematologica.org)
Hematopoiesis, the process of blood and immune cell generation, is dependent upon a rare population of cells, hematopoietic stem cells (HSC) that reside in the bone marrow. (uwm.edu)

Dr. Cynthia Dunbar is a senior investigator in the Molecular Hematopoiesis Section of NHLBI. (nih.gov)

The Mayo Clinic Clonal Hematopoiesis (CHIP) and Telomere Biology Disorder clinics are a collaborative effort between the Division of Hematology and Mayo Clinic's Center for Individualized Medicine . (mayoclinic.org)

The analysis focused on the hematopoietic cells from which immune cells are derived, as well as on the yolk sac (YS) and the aorta-gonad-mesonephros (AGM), which are involved in hematopoiesis during the fetal stage. (neurosciencenews.com)
It is found that both in aorta-gonad-mesonephros (AGM) and yolk sac (YS) progenitors, the dysregulation of HDAC1-mediated epigenetic machinery alters definitive hematopoiesis during embryogenesis and downregulates the expression of the AP-1 complex for microglia development. (neurosciencenews.com)

First, in contrast to actively dividing BM HSPCs, we find no evidence of substantial ongoing hematopoiesis in extramedullary tissues at steady state, but report increased splenic HSPC proliferative output during stress erythropoiesis. (kumamoto-u.ac.jp)

Isolated nontraumatic EDH is an exceedingly rare complication of sickle cell disease (SCD). (hindawi.com)

Primary myelofibrosis is a rare condition that affects approximately 1 in 500,000 people worldwide. (medlineplus.gov)

These unique and rare cells are key for the production of blood throughout our lifetime, especially upon proliferative stress such as viral infections or injury which trigger blood stem cells to refuel our blood system with new cells. (mpg.de)
Using state-of-art technologies like single-cell RNA sequencing, we were able to examine these rare stem cells at a much higher resolution. (mpg.de)

Extramedullary hematopoiesis (EMH) is commonly observed in rodents as a normal component of the splenic red pulp. (nih.gov)
Collectively, we identify extramedullary lineage-primed HSPC reservoirs that are non-proliferative in situ and report involvement of splenic HSPCs during demand-adapted hematopoiesis. (kumamoto-u.ac.jp)

This method can help answer key questions in the field of developmental hematopoiesis about the unique lineage contributions of clonal HSC precursors during embryonic development. (jove.com)
Fanconi anemia is a rare genetic disease that is typically associated with developmental abnormalities, bone marrow failure and increased risk of cancer. (openwetware.org)

Malignant myelofibrosis (sometimes called acute myelofibrosis), is a rare variant of myelofibrosis characterized by pancytopenia, myeloblastosis, and marrow fibrosis that has a more rapidly progressive downhill course and is generally due to a type of acute leukemia called acute megakaryoblastic leukemia. (msdmanuals.com)
Our next step will be to understand whether this signaling axis is altered in the context of diseased hematopoiesis, such as acute myeloid leukemia," said Nina Cabezas-Wallscheid. (mpg.de)

6. Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis. (nih.gov)
Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice. (medgen-journal.ru)

C3414 Thyroid Tumor C90259 Pediatric Terminology A C8011 TSH-Producing Pituitary Gland Adenoma Thyroid Stimulating Hormone-Producing Adenoma TSH-producing Adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. (nih.gov)

Complications from RAI range from minor short- and long-term sialadenitis, nasolacrimal duct obstruction, and reproductive disturbances to more serious but rare forms of leukemia, myelosuppression, and aplastic anemia. (medscape.com)

Rare causes of hyperplasia include myasthenia gravis, red cell aplasia, and hyperthyroidism. (123dok.org)

However, the current study is unable to address potential confounding factors such as clonal hematopoiesis. (nih.gov)

Clonal hematopoiesis (CH) is a precursor clonal state that confers increased risk of leukemia and occurs at an elevated rate in patients with thyroid cancer relative to other solid tumors. (medscape.com)
In contrast, clonal hematopoiesis that occurs because of aging is associated with other mutated genes. (mayoclinic.org)

RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature. (nih.gov)

Complications are rare with rubella in healthy infants and adults. (medscape.com)

Her work has contributed to the discovery and characterization of ten novel human genes, many with critical but poorly understood roles in hematopoiesis, cancer susceptibility (AML and other cancers), and resistance to certain commonly-used chemotherapeutic drugs. (openwetware.org)

Definitive hematopoiesis in YS and AGM single-cell level analysis successfully identified pathological mechanisms at the molecular level within rare progenitor cells in the early stages of development. (neurosciencenews.com)
Rare hematopoietic stem and progenitor cell (HSPC) pools outside the bone marrow (BM) contribute to blood production in stress and disease but remain ill-defined. (kumamoto-u.ac.jp)

Isolated nontraumatic spontaneous epidural hematoma (EDH) is an exceedingly rare complication of SCD. (hindawi.com)

We systematically developed an ex vivo system that allows for normal environmental regulation of hematopoiesis. (uwm.edu)

Osteopetrosis-from the Greek osteo , meaning "bone," and petros , meaning "stone"-is a rare genetic disorder that is characterized by increased bone density on plain radiography, which is diagnostic. (medscape.com)

Spontaneous EDH is a rare entity in clinical practice. (hindawi.com)

This allows identification of the unique phenotypic properties that distinguish rare HSC precursors. (jove.com)
At HSC/MPP level, this is functionally imparted by a subset of phenotypic CD71 + HSC/MPPs, exclusively producing erythrocytes and megakaryocytes, highly abundant in PB but rare in other adult tissues. (kumamoto-u.ac.jp)

A bone marrow biopsy performed after the induction phase of therapy revealed a hypocellular marrow (30% cellular) with maturing trilineage hematopoiesis and no morphologic proof disease. (forgetmenotinitiative.org)
Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease. (medgen-journal.ru)
Dr. Hoatlin is interested in developing industry-academic partnerships aimed at using rare disease research to de-risk drug development. (openwetware.org)

In contrast, the autosomal recessive variant, known as "malignant infantile osteopetrosis," is extremely rare. (medscape.com)

Anatomy46

Organisms15

Diseases24

Chemicals and Drugs61

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Phenomena and Processes41

Anthropology, Education, Sociology and Social Phenomena1

Humanities1

Information Science2

Extramedullary Haematopoiesis1

Extra-medullary2

Clonal haematopoiesis6

Mutations8

Indeterminate2

Bone marrow fibrosis2

Spleen6

Renal1

Variants4

Ineffective erythropoiesis1

Phenotypes1

Hematologic3

Splenomegaly1

Diagnosis2

Hepatosplenomegaly2

Immune System2

Leukoerythroblastosis1

Disorders4

Severe2

Transfusions1

Hematopoietic Stem2

Senior investigator1

CHIP1

Aorta-Gonad-Meson2

Erythropoiesis1

Sickle cell di1

Primary myelofibrosis1

Stem cells2

Splenic2

Developmental2

Acute2

Deficiency2

Terminology1

Anemia1

Hyperplasia1

Potential1

Occurs2

Gene1

Adults1

Genes1

Progenitor2

Complication1

Vivo1

Genetic disorder1

Clinical1

Phenotypic2

Disease3

Malignant1