A case of beta-thalassemia with a C----T substitution at position 654 of the second intervening sequence of the beta-globin gene.
A 26-year-old Chinese-Malaysian female patient with beta-thalassemia is presented. The main hematological values found in this patient were as follows: 1) normocytic hypochromic anemia (RBC 444 x 10(4)/microliters, Hb 11.8 g/dl) with marked anisopoikilocytosis, 2) erythroid hyperplasia, and 3) increased HbF (HbA 41.4%, HbA2 2.9%, HbF 48.9%). DNA obtained from peripheral leukocytes was analyzed using dot blot hybridization of the polymerase chain reaction (PCR)-amplified DNA with allele-specific oligonucleotide probes. A C----T substitution at position 654 of the second intervening sequence (IVS-2) was detected in her beta-globin clone.
Jo
T
T
Department of Hematology, Nagasaki University School of Medicine, Japan.
Momita
S
S
Sadamori
N
N
Tomonaga
M
M
Fucharoem
S
S
Fukumaki
Y
Y
Ichimaru
M
M
D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D005922:Glomerulonephritis, IGA / Q000150:complications; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D013789:Thalassemia / Q000150:complications / Q000235:genetics*
D012333:RNA, Messenger; D005914:Globins; D004247:DNA