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Myelodysplastic syndrome (MDS) is a form of blood cancer in which the bone marrow no longer produces enough healthy, normal blood cells. [9] MDS are a frequently unrecognized and rare group of bone marrow failure disorders, yet the incidence rate has rose from 143 reported cases in 1973 to approximately 15,000 cases in the United States each year.
Myelodysplastic syndrome; ... is the abnormal proliferation of a clone of noncancerous megakaryoblasts in the liver and bone marrow. The disease is restricted to ...
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure syndrome characterized by severe thrombocytopenia, which can progress to aplastic anemia and leukemia. [4] CAMT usually manifests as thrombocytopenia in the initial month of life or in the fetal phase.
Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal and cardiac abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in ...
Myelophthisic anemia (or myelophthisis) is a severe type of anemia found in some people with diseases that affect the bone marrow. Myelophthisis refers to the displacement of hemopoietic bone-marrow tissue [1] by fibrosis, tumors, or granulomas. The word comes from the roots myelo-, which refers to bone marrow, and phthisis, shrinkage or atrophy.
Patients typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction. [2] The primary cause of death in Hoyeraal–Hreidasson syndrome is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant. [4] [5] [6]
Pearson syndrome is classified as a mitochondrial disease because it consists of several overlapping syndromes that are caused by mutations of mitochondrial DNA. Specifically, Pearson syndrome is a combination of syndromes that involves the bone marrow and the exocrine pancreas. [7]
Bone marrow failure syndromes may be acquired or inherited. These conditions lead to a decrease in one or more cell lineages. Diamond-Blackfan Anemia is an example of a congenital bone marrow failure syndrome that primarily affects red blood cell production.