Heterogeneity of beta thalassaemia in Thailand.
Beta thalassaemia in Thailand is heterogeneous. Clinical, genetical, haematological and globin chain biosynthetic studies were performed in seven beta-thalassaemia families. The results showed different gene combinations. These were alpha-thalassaemia/homozygous beta 0-thalassaemia, questionable double heterozygosity between a beta-thalassaemia and a silent beta-thalassaemia genes with low Hb F of unexplained cause, silent beta-thalassaemia/beta+ - or beta 0-thalassaemia, high Hb A2 high Hb F-beta-thalassaemia - a new mutant, mild beta+-thalassaemia/Hb E, and beta 0-thalassaemia/heterocellular HPFH or delta beta-thalassaemia associated with alpha-thalassaemia. Most of variability of clinical and haematological findings in these families is due to heterogeneity of the beta-thalassaemia and related genes.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006441:Hemoglobin A / Q000032:analysis; D006446:Hemoglobin E / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006441:Hemoglobin A; D006446:Hemoglobin E; D005319:Fetal Hemoglobin