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Acta Médica Costarricense
versão On-line ISSN 0001-6002versão impressa ISSN 0001-6012
Resumo
SAENZ-RENAULD, German F e RODRIGUEZ-ROMERO, Walter. Síndromes talamésicos. Nuevos conceptos y estado actual del conocimiento en Costa Rica. Acta méd. costarric [online]. 2006, vol.48, n.4, pp.172-178. ISSN 0001-6002.
While for abnormal hemoglobins it is possible to use anthropological markers to establish their origins, the thalassemias have a very wide distribution in ancestral populations. Thalassemias are the world's most common monogenic disorders. The dispersion of B thalassemia in the Mediterranean region, the Middle East, the southeastern part of Asia, the Indian subcontinent and other regions, indicate that their genetic origins were independent. a thalassemia shows a similar pattern (southeastern part of Asia, southern China, Philippines, Africa and the Mediterranean). In Costa Rica thalassemia is found in the black population with two alleles (a+ (a1) 23% and aº (a2) 3.9%). Sporadic double heterozygous cases of Hb H disease (a+/aº), are from oriental population. Special reference is made of minor B thalassemia and their important differentiation with iron deficiency anemia. Eight major B thalassemia cases have been described in our country. Intermediate thalassemia cases with or without Hb S are not infrequent. A short commentary is made of the pathophysiology of B thalassemia and the treatment in developed countries.
Palavras-chave : Hemapolesis; genes of globulin a and B; hemoglobin A, thalassemia.