TL;DR Hereditary hemochromatosis is a genetic disorder affecting iron metabolism, leading to excessive iron absorption from the diet. It is the most common genetic disease in populations of Northern European descent. Causes ▾ Primarily caused by mutations in the HFE...
Introduction The discovery of the JAK2 V617F mutation revolutionized our understanding of myeloproliferative neoplasms (MPNs). This single nucleotide change, where a guanine (G) is replaced by a thymine (T) at position 1849 in exon 14 of the JAK2 gene, leads to...
TL;DR Sideroblastic anemia is a type of anemia characterized by abnormal iron metabolism within red blood cell precursors. Refractory anemia is defined by the presence of many pathological ring sideroblasts in the bone marrow. Causes ▾ Inherited: Mutations in genes...
Introduction Macrocytic anemia is a specific type of anemia that combines two conditions: macrocytosis and anemia. Macrocytosis refers to a condition where red blood cells are larger than normal. It’s itself not a disease, but rather an abnormality detected in a...
Introduction Microcytic hypochromic anemia is a type of anemia characterized by red blood cells that have less hemoglobin than normal. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. When red blood cells lack sufficient...
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