|
|
| Line 8: |
Line 8: |
|
| |
|
| ==Symptoms== | | ==Symptoms== |
| Most clinically significant hemoglobinopathies cause mild to acute [[anemia]], in rare cases [[hemolytic anemia]].
| |
| Symptoms vary for the different diseases: in sickle cell disease the [[red blood cell]]s tend to assume a different shape under anaerobic conditions, leading to organ damage and circulatory problems, while in thalassemia there is ineffective production of red blood cells (''[[erythropoiesis]]'').
| |
|
| |
|
| == Migration patterns == | | == Migration patterns == |
|
| |
| === Migration patterns (Alkaline Electrophoresis) ===
| |
|
| |
| In general on alkaline electrophoresis in order of increasing mobility are hemoglobins A2, E=O=C, G=D=S=Lepore, F, A, K, J, Bart's, N, I, and H.<br>
| |
|
| |
| In general a sickling test (sodium bisulfite) is performed on abnormal hemoglobins migrating in the S location to see if the red cells precipitate in solution.
| |
|
| |
| === Migration patterns (Acid Electrophoresis) ===
| |
|
| |
| In general on acid electrophoresis in order of increasing mobility are hemoglobins F, A=D=G=E=O=Lepore, S, and C.
| |
|
| |
| This is how abnormal Hgb variants are isolated and identified using these two methods. For example a Hgb G-Philadelphia would migrate with S on alkaline electrophoresis and would migrate with A on acid electrophoresis, respectively.
| |
|
| |
|
| == Common variants == | | == Common variants == |
| Line 38: |
Line 24: |
|
| |
|
| ==Hemoglobinopathy and evolution== | | ==Hemoglobinopathy and evolution== |
|
| |
| Some hemoglobinopathies (and also related diseases like [[glucose-6-phosphate dehydrogenase deficiency]]) seem to have given an evolutionary benefit, especially to [[Heterozygous advantage|heterozygote]]s, in areas where [[malaria]] is endemic. Malaria parasites live inside red blood cells, but subtly disturb normal cellular function. In patients predisposed for rapid clearance of red blood cells, this may lead to early destruction of cells infected with the parasite and increased chance of survival for the carrier of the trait.
| |
|
| |
|
| [[es:Hemoglobinopatía]] | | [[es:Hemoglobinopatía]] |