Thalassemia syndromes. New concepts and current state of knowledge in Costa Rica
DOI:
https://doi.org/10.51481/amc.v48i4.270Keywords:
Hemapolesis, genes of globulin ?and β, hemoglobin A, thalassemiaAbstract
While for abnormal hemoglobins it is possible to useanthropological markers to establish their origins, thethalassemias have a very wide distribution in ancestral populations. Thalassemias are the world's most commonmonogenic disorders. The dispersion of βthalassemia inthe Mediterranean region, the Middle East, the southeasternpart of Asia, the Indian subcontinent and other regions, indi-cate that their genetic origins were independent. αthalassemia shows a similar pattern (southeasternpart of Asia, southern China, Philippines, Africa and theMediterranean). In Costa Rica thalassemia is found in theblack population with two alleles (α+(α1) 23% and αo(α2)3.9%). Sporadic double heterozygous cases of Hb H dis-ease (α+/αo), are from oriental population. Special reference is made of minor βthalassemia and their importantdifferentiation with iron deficiency anemia. Eight major βthalassemia cases have been described in our country.Intermediate thalassemia cases with or without Hb S are notinfrequent. A short commentary is made of the pathophysi-ology of βthalassemia and the treatment in developedcountries.
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