Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients.
Two cases of the Thai thalassemia patients with compound heterozygosities for (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E have been reported. The first case was a 8-yr-old boy who had the following hematologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. Hemoglobin analysis revealed 1.9% hemoglobin A2 and 91.7% hemoglobin F. The second case, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old male who had 46.1% hemoglobin E and 49.8% hemoglobin F. Globin gene analyses showed that both probands carried the same deletional type (deltabeta)(0)-thalassemia trans to the 4 bp deletions in codons 41/42 beta(0)-thalassemia and to the betaE-globin gene, respectively. Polymerase chain reaction and DNA sequence analyses demonstrated that the 5' breakpoint of the (deltabeta)(0)-thalassemia deletion was located in the second intron of the delta-globin gene and that the 3' breakpoint lay within a cluster of LI repetitive sequences at 4.7 kb 3' to the beta-globin gene.
Fucharoen
S
S
Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. supan@mail.kku.ac.th
Pengjam
Y
Y
Surapot
S
S
Fucharoen
G
G
Sanchaisuriya
K
K
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D003951:Diagnostic Errors; D005260:Female; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D005914:Globins; D006446:Hemoglobin E