Disorders of Iron Kinetics and Heme Metabolism | Anemias Caused by Defects of DNA Metabolism | Bone Marrow Failure

Anemia of Chronic inflammation

Anemia resulting from impaired iron mobilization

Iron deficiency anemia

The anemia associated with inadequate stores, Develops when the intake of iron is inadequate to meet a standard level of demand, when the need for iron expands without compensated intake.

Sideroblastic anemia

Refers to the presence of nonheme iron in the developing RBCs, Anemia that occurs when there is an interference with protoporphyrin IX synthesis

Thalassemia

Inadequate globin production results in the thalassemias

Serum Iron

measure of the amount of iron bound to transferrin

transferrin

(transport protein in the serum)

TIBC

an indirect measure of transferrin and the available binding sites for iron in the plasma

Hepcidin

(produced by hepatocytes in the liver) is to regulate the body iron levels, particularly absorption of iron in the intestine and release of iron from macrophages .

porphyria

most often used to refer to the hereditary conditions that impair production of protoporphyrin.

Impaired DNA synthesis

Root cause of megaloblastic anemias

Megaloblastic anemia

named for the very large cells of the bone marrow that develop bec of reduction in the number of cell divisions.

Vitamin B12

Required in normal erythropoiesis along with Folate.

Folate

Impt in DNA synthesis, Deficiency leads to impaired cell replication.

ineffective hematopoiesis

Abnormal blood cell development

Slight macrocytosis

earliest sign of megaloblastic anemia

Pancytopenia

decreased numbers of circulating RBCs. WBCs, and platelets.

Aplastic Anemia

A rare but fatal BM failure syndrome.

Fanconi Anemia

most common inherited BM syndrome.

Dyskeratosis Congenita

a rare inherited bone marrow failure syndrome.

Shwachman-Bodian-Diamond Syndrome

A multisystem disorder characterized by pancreatic insufficiency, cytopenia, skeletal abnormalities, and a predisposition for hematologic malignancies.

SBDS gene

involved in ribosome biogenesis and mitotic spindle stability.