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Research Article Free access | 10.1172/JCI107779
Department of Medicine, Columbia University, College of Physicians and Surgeons, New York 10030
Human Genetics and Development, Columbia University, College of Physicians and Surgeons, New York 10030
Medical Services, Presbyterian Hospital, New York 10030
Sickle Cell Center, Harlem Hospital, New York 10030
Find articles by Natta, C. in: JCI | PubMed | Google Scholar
Department of Medicine, Columbia University, College of Physicians and Surgeons, New York 10030
Human Genetics and Development, Columbia University, College of Physicians and Surgeons, New York 10030
Medical Services, Presbyterian Hospital, New York 10030
Sickle Cell Center, Harlem Hospital, New York 10030
Find articles by Niazi, G. in: JCI | PubMed | Google Scholar
Department of Medicine, Columbia University, College of Physicians and Surgeons, New York 10030
Human Genetics and Development, Columbia University, College of Physicians and Surgeons, New York 10030
Medical Services, Presbyterian Hospital, New York 10030
Sickle Cell Center, Harlem Hospital, New York 10030
Find articles by Ford, S. in: JCI | PubMed | Google Scholar
Department of Medicine, Columbia University, College of Physicians and Surgeons, New York 10030
Human Genetics and Development, Columbia University, College of Physicians and Surgeons, New York 10030
Medical Services, Presbyterian Hospital, New York 10030
Sickle Cell Center, Harlem Hospital, New York 10030
Find articles by Bank, A. in: JCI | PubMed | Google Scholar
Published August 1, 1974 - More info
In two black families with the hereditary persistence of fetal hemoglobin (HPFH) gene there are eight A-F heterozygotes and two double heterozygotes for sickle cell trait and HPFH. These patients are clinically asymptomatic and have homogeneous acid elution smears. Measurement of globin chain synthesis in peripheral blood demonstrates balanced production of a α and non-α (β plus γ) chains. In these patients, the balance is achieved by increased γ globin production and increased activity of the remaining β globin allele. In two patients, one A-F and the other S-F there is also balanced globin synthesis in the bone marrow. In a double heterozygote for HPFH and β-thalassemia, anemia (Hb: 11.5 g/100 ml) is associated with a moderate degree of globin chain imbalance. There is a correlation between balanced globin chain synthesis and the absence of anemia in patients with HPFH.