[Genetic, biochemical, pathogenetic and laboratory aspects of thalassemia. Heterozygote thalassemia in Alghero].
After reviewing the most recent genetic, biochemic, pathogenetic and laboratory aspects of thalassemia, the Authors refer to a statistical survey of the population of Alghero regarding the thalassemia heterozygote. In order to arrive at the "microcytosis" condition, a study of the average corpuscle volume is recommended as a screening standard. For this purpose, and for technical and economical reasons, automatic continuous flows apparatus are most suitable such as the Technicon SMA 7/A. After emphasizing the difficulty that the laboratory often encounters in diagnosing a heterozygote condition, the Authors report a thalassemic taint of 7.18% in Alghero, with a prevalence of the beta-thalassemia so called 1st type. They refer to the not rare occurrence of anaemia, in association with sideropenia and thalassemia and confirms the possible disappearance of the erythrocytary thalassemia characteristics when, together with the thalassemia there is a deficiency of G-6-PDH. The study carried out by the Authors does not reveal any proven case of alpha-thalassemia, thus confirming what other research workers have established on the rarity of this thalassemia variant in our zone, but not excluding that this apparent rarity could be attributed to an inadequacy in the present means of research.
D004247:DNA / Q000097:blood; D005815:Genetic Code; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D012313:RNA / Q000097:blood; D013789:Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
D006454:Hemoglobins; D012313:RNA; D004247:DNA
Acquisizioni genetiche, biochimiche, patogenetiche e di laboratorio della thalassemia. La thalassemia eterozigote in Alghero