title: Common alpha-thalassemia deletions in transfusion-dependent thalassemia patients in the Southeast Asia region of Myanmar.
abstract: Screening of 3 common alpha-thalassemia (thal) deletions (-alpha3.7, -alpha4.2 and --SEA) in Southeast Asia was done by polymerase chain reaction in 170 unrelated Myanmar thal patients receiving transfusions. Thal deletions were detected in 27 patients (15.9%) as: (1) alpha-thal-2 (-alpha3.7/alphaalpha) in 12 heterozygous or hemoglobin (Hb) E-beta-thal cases; (2) alpha-thal-1 in 7 patients (2-alpha3.7/-alpha3.7 and 5 --SEA/alphaalpha); and (3) Hb H (-alpha3.7/--SEA) in 8 patients. The latter 15 alpha-thal-1 and Hb H patients had no beta-thal mutations and represented 8.8% of the overall patients seeking transfusion for refractory anemia in Myanmar. This is the first description of alpha-thal in Myanmar from the molecular aspect, and its clinical and racial heterogeneity are described and discussed.
authors.affiliation: Pathology Research Division, Department of Medical Research (Lower Myanmar), Yangon, Union of Myanmar.
authors.lastname: Ne-Win
authors.forename: Keiko
authors.initials: K
authors.lastname: Harano
authors.forename: Teruo
authors.initials: T
authors.lastname: Harano
authors.lastname: Thein-Thein-Myint
authors.lastname: Rai-Mra
authors.lastname: Aye-Aye-Myint
authors.forename: Kunio
authors.initials: K
authors.lastname: Shimono
authors.forename: Shigeru
authors.initials: S
authors.lastname: Okada
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008875:Middle Aged; D002052:Myanmar / Q000208:ethnology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology