Hereditary methemoglobinemia in basic and clinical progress of.docVIP

 PAGE \* MERGEFORMAT 33 Hereditary methemoglobinemia in basic and clinical progress of Keywords: hereditary methemoglobinemia Methemoglobin (methemoglobin, MetHb) is a genetic factor or after the absorption of toxic compounds produced by the red blood cells [1], its concentration exceeded a certain level can cause methemoglobinemia (methemo  globinemia), is divided into acquired and hereditary two major categories [2,3]. Hereditary methemoglobinemia (hereditary methemoglobinemia, HM) are classified as rare diseases at home and abroad. In recent years, due to enzyme detection technology advances, more and more reports related to HM, its pathogenesis, clinical classification and treatment of much attention of scholars at home and abroad, including the NADH  cytochrome 65 reductase (NADH  dependent Cytochrome 65 reductase, NADH  Cytb5R) gene mutation was a big progress. 1 related concepts 1.1 methemoglobin Hemoglobin (Hb) from the globin and heme composition, combined with oxygen, generating oxygenation Hb. MetHb is in deoxy-Hb, or heme oxygenase-group of iron ions from the bivalent iron is oxidized to ferric iron in Hb derivatives. Under normal circumstances, RBC a small amount of Hb will be sustained and slowly oxidized into trivalent iron-containing MetHb. MetHb in each part of the heme iron atom has a net positive charge, making it easy with a small anion ligands such as CN-, N-, F-and Cl-binding, but not with Hb typical ligands such as O2 and CO is almost there is no affinity [1], thereby reducing the blood’s oxygen-carrying capacity and lead to the release of tissue oxygen barrier, oxygen from the curve to the left, resulting in functional anemia and Hb oxygenation barriers [4,5]. 1.2 methemoglobinemia RBC enzyme that has a series of non-enzymatic reduction systems to ensure the reduction of MetHb ability to go far beyond the ability Hb oxidation (MetHb reduction rate of 5% Hb volume / h, while the norma