A Case of .BETA.-thalassemia with a C.RAR.T Substitution at Position 654 of the Second Intervening Sequence of the .BETA.-globin Gene.

A 26-year-old Chinese-Malaysian female patient with β-thalassemia is presented. The main hematological values found in this patient were as follows : 1) normocytic hypochromic anemia (RBC 444×104/μl, Hb 11.8g/dl) with marked anisopoikilocytosis, 2) erythroidhyperplasia, 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 β-globin clone.(Internal Medicine 31 : 269-272, 1992)