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The test uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis.After the sample has been treated to release the hemoglobin from the red cells, it is introduced into a porous gel (usually made of agarose or cellulose acetate) and subjected to an electrical field, most commonly in an alkaline medium.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS. Isoelectric focusing or high-performance liquid chromatography are used to identify structural abnormalities in hemoglobin.
Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated methemoglobin (metHb) level in blood. [1] HbM is an altered form of hemoglobin (Hb) due to point mutation occurring in globin-encoding genes, mostly involving tyrosine substitution for proximal (F8) or distal (E7) histidine residues. [2]
Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation.The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two delta-beta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis and was first identified in the Lepore ...
A hemoglobin test measures the amount of hemoglobin in your blood. If a hemoglobin tests shows that a person's levels are below normal, it means they have a low red blood cell count, which is known as anemia. If the test shows higher levels than normal, it means they have hemoglobinemia. [citation needed] The normal range for hemoglobin is:
Laboratory studies commonly used to investigate hemolytic anemia include blood tests for breakdown products of red blood cells, bilirubin and lactate dehydrogenase, a test for the free hemoglobin binding protein haptoglobin, and the direct Coombs test (also called direct antiglobulin test or DAT) to evaluate complement factors and/or antibodies ...
When combined with Hemoglobin S (β^6Glu → Val) it causes a severe form of Sickle cell disease known as Hemoglobin S/O-Arab. Detection of Hb O-Arab can be carried out with a blood test, identifying the carries of hemoglobinopathies, so as to inform patients their chances of producing an affected child and ensure appropriate guidance is given.