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• W2293027208 abstract "Abstract A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta- thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation." @default.
• W2293027208 created "2016-06-24" @default.
• W2293027208 creator A5088394134 @default.
• W2293027208 date "1976-01-01" @default.
• W2293027208 modified "2023-09-27" @default.
• W2293027208 title "Globin chain synthesis in HbD (Punjab)-beta-thalassemia" @default.
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• W2293027208 doi "https://doi.org/10.1182/blood.v47.1.113.113" @default.
• W2293027208 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1244906" @default.
• W2293027208 hasPublicationYear "1976" @default.
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