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Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. The test can detect hemoglobin S, the form associated with sickle cell disease, as well as other abnormal types of hemoglobin, such as hemoglobin C. It can also be used to investigate thalassemias, which are disorders caused by defective hemoglobin production.
A schematic of hemoglobin electrophoresis, showing the banding which is typical of various types of hemoglobin. Note that sickle cell disease (SCD) gives a single, bold band whereas sickle cell trait gives two slightly fainter bands. Where SCD is suspected, a number of tests can be used.
Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease (HbS) that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three variants described in association with HbS. [7]
The hemoglobin structural variants can be broadly classified as follows: [19] 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 ...
Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene. HbA2 exists in small amounts in all adult humans (1.5–3.1% of all hemoglobin molecules) and is approximately normal in people with sickle-cell disease. [1] Its biological importance is not yet known.
Thus, it was not clear whether it was involved in sickle cell disease. Genetically, the abnormal hemoglobin was only in heterozygous condition. [22] The next year, Neel and his colleagues established that the hemoglobin is associated with sickle cell disease. [23] The hemoglobin was named hemoglobin III, [24] but hemoglobin C was eventually used.
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