Hematological and hemoglobin synthesis studies in a family with deltabeta-thalassemia trait.
A Basque Spanish family with heterozygous deltabeta-thalassemia is described. Patients with this anomaly usually present hematological findings observed in classical beta-thalassemia, but clinical conditions and unbalanced chain synthesis are less severe. Our propositus, however, presented clinical and biosynthetic data similar to those described in thalassemia intermedia. A family study was also performed.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics; D006400:Hematocrit; D006443:Hemoglobin A2 / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D013030:Spain; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006454:Hemoglobins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin