Erythroblastic Inclusions in Dominantly Inherited β Thalassemias

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Erythroblastic Inclusions in Dominantly Inherited β Thalassemias by P. Joy Ho, Sunitha N. Wickramasinghe, David C. Rees, Matthew J. Lee, Ayed Eden, and Swee Lay Thein Blood Volume 89(1):322-328 January 1, 1997 ©1997 by American Society of Hematology

Detection of the β-codon 121 G-T mutation by restriction analysis. Detection of the β-codon 121 G-T mutation by restriction analysis. (a) A 497-bp fragment of β cDNA is amplified by the primers A (5′-TGA GGA GAA GTC TGC CGT TAC-3′ ) and B (5′-CCC CAG TTT AGT AGT TGG ACT TA-3′ ). The EcoRI restriction site is indicated by the arrow; this is abolished by the β-codon 121 mutation. EcoRI digestion produces 2 fragments of 347 and 150 bp from the normal allele, and a single uncut 497-bp fragment from the mutant allele. (b) Ethidium bromide–stained 2% agarose gels of electrophoresed EcoRI-digested β cDNA. The lanes are represented by M:ΦX174 RF DNA/HaeIII marker; 1, Uncut fragment; 2, case no. 2; 3, case no. 1; 4, positive control for codon 121 G-T; 5, normal control. P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

Cation-exchange chromatography on globin (case no Cation-exchange chromatography on globin (case no. 2) from (A) peripheral blood and (B) bone marrow following incubation with tritiated leucine for 60 minutes. Cation-exchange chromatography on globin (case no. 2) from (A) peripheral blood and (B) bone marrow following incubation with tritiated leucine for 60 minutes. Solid line shows radioactive incorporation (counts per minute), and dotted line, absorbance at 280 nm. P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology

Distribution of serum TfR levels in normal individuals, patient no Distribution of serum TfR levels in normal individuals, patient no. 1 (β121), and subjects with various anemias. Distribution of serum TfR levels in normal individuals, patient no. 1 (β121), and subjects with various anemias. The mean level in 44 normal subjects is 2.82 ± 0.96 mg/L. P. Joy Ho et al. Blood 1997;89:322-328 ©1997 by American Society of Hematology