Hemoglobin Evaluation, Hb ELP, Hb IEF, Sickle Cell Screen, Hemoglobin Fractionation, Hemoglobin Electrophoresis, Hemoglobin Isoelectric Focusing, Hemoglobin by HPLC, Hemoglobin by Capillary Electrophoresis
This test is performed to investigate hemoglobinopathy as the cause of signs and symptoms, to screen for a hemoglobin disorder.
You'll asked to get it as follow up to abnormal results on a complete blood count (CBC) and/or blood smear, when you have symptoms of hemolytic anemia such as weakness and fatigue and your healthcare practitioner suspects that you have an abnormal form of hemoglobin (hemoglobinopathy), when you have a family history of hemoglobinopathy, as part of newborn screening.
A hemoglobinopathy is an inherited blood disorder in which an individual has an abnormal form of hemoglobin (variant) or decreased production of hemoglobin (thalassemia). A hemoglobinopathy evaluation is a group of tests that determines the presence and relative amounts of abnormal forms of hemoglobin in order to screen for and/or diagnose a hemoglobin disorder.
Hemoglobin (Hb) is the iron-containing protein found in all red blood cells (RBCs) that binds to oxygen in the lungs and allows RBCs to carry the oxygen throughout the body, delivering it to the body's cells and tissues. Hemoglobin consists of one portion called heme, which is the molecule with iron at the center, and another portion made up of four globin (protein) chains. The globin chains, depending on their structure, have different designations: alpha, beta, gamma, and delta. The types of globin chains that are present are important in the function of hemoglobin and its ability to transport oxygen.
Normal hemoglobin types include:
● Hemoglobin A: makes up about 95%-98% of Hb found in adults, it contains two alpha and two beta protein chains.
● Hemoglobin A2: makes up about 2%-3% of Hb in adults, it has two alpha and two delta protein chains.
● Hemoglobin F (fetal hemoglobin): makes up to 1%-2% of Hb found in adults, it has two alpha and two gamma protein chains. This is the primary hemoglobin produced by the fetus during pregnancy, its production usually falls shortly after birth and reaches adult levels by 1-2 years.
Hemoglobinopathies occur when changes (mutations) in the genes that code for the globin chains cause alterations in the proteins. These genetic changes may result in a reduced production of one of the normal globin chains or in the production of structurally altered globin chains. Genetic mutations may affect the structure of the hemoglobin, its behavior, its production rate, and/or its stability. The presence of abnormal hemoglobin within RBCs can alter the appearance (size and shape) and function of the red blood cells.
Red blood cells containing abnormal hemoglobin (hemoglobin variants) may not carry oxygen efficiently and may be broken down by the body sooner than usual (a shortened survival), resulting in hemolytic anemia.
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Hemoglobinopathy Evaluation Test
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