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Sickle cell disorders, which are the most prevalent form of hemoglobinopathy. Sickle hemoglobin (HbS) is prone to polymerize when deoxygenated, precipitating within the red blood cell. This damages the RBC membrane resulting in its premature destruction and consequent anemia.
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 ...
Diamond-Blackfan Anemia is an example of a congenital bone marrow failure syndrome that primarily affects red blood cell production. In DBA, the erythroid cell lineage is more susceptible to cell death due to abnormal ribosome function. [4] This leads to a reduced population of red blood cell precursors and a resulting reticulocytopenia and anemia.
ICD-9 chapters; Chapter Block Title I 001–139: Infectious and Parasitic Diseases II 140–239: Neoplasms III 240–279: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders IV 280–289: Diseases of the Blood and Blood-forming Organs V 290–319: Mental Disorders VI 320–389: Diseases of the Nervous System and Sense Organs ...
Hemoglobinopathy variants include sickle-cell disease. [38] Hemolytic anemia: D55-D59: 5534: Hemolytic anemia (also known as haemolytic anaemia) is an anemia due to hemolysis, the abnormal breakdown of red blood cells. A number of different mediating factors can cause this condition; either from within the blood cell itself (intrinsic factors ...
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
It is possible for a person to have both the gene for hemoglobin S (the form associated with sickle cell anemia) and the gene for hemoglobin C; this state is called hemoglobin SC disease, and is generally more severe than hemoglobin C disease, but milder than sickle cell anemia.
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.