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Thalassemia is an inherited blood disease particularly prevalent amongMediterranean, Middle Eastern, Pacific Islanders, Asian, and African peoples.The genetic defect that causes a reduced rate of synthesis for hemoglobin isbelieved to provide some protection against malaria in malaria-prone areas.However, it can lead to anemia, which is the characteristic presentingsymptom, and other health complications involving the spleen, gall stones, andheart failure. There is no cure for thalassemia and the best treatmentavailable today consists of frequent blood transfusions (every two to threeweeks) with iron chelation therapy administered subcutaneously.
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The severity of alpha thalassemia is correlated with the number ofaffected globin loci:
If both parents carry a hemoglobinopathy trait, there is a 25 percentchance with each pregnancy for an affected child. Genetic testing and birthscreening are recommended for families that carry a thalassemia trait. Somecountries are seeing a large increase of thalassemia patients due to lack ofgenetic counseling.
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Visit http://www.MayoMedicalLaboratories.com for additional information.-- If one of the four loci is affected, there is minimal effect. -- If two of the four loci are affected, the condition is called alpha thalassemia trait with mild microcytic hypochromic anemia. -- If three loci are affected, the condition is called Hemoglobin H disease. Two unstable hemoglobins are present in the blood and both have a higher affinity for oxygen than normal hemoglobin, resulting in poor oxygen delivery to tissues. The disease may first be noticed in childhood or in early adult life, when microcytic hypochromic anemia and splenomegaly are noted. -- If all four loci are affected, the fetus cannot live once outside the uterus and may not survive gestation. This is called hydrops fetalis.
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