Balanced globin chain synthesis in hereditary persistence of fetal hemoglobin.
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 alpha and non-alpha (beta plus gamma) chains. In these patients, the balance is achieved by increased gamma globin production and increased activity of the remaining beta 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 beta-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.
D000328:Adult; D000483:Alleles; D000596:Amino Acids; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics; D044383:Black People; D001797:Blood Protein Electrophoresis; D001853:Bone Marrow / Q000378:metabolism; D001854:Bone Marrow Cells; D002250:Carbon Radioisotopes; D002845:Chromatography; D005260:Female; D005319:Fetal Hemoglobin / Q000096:biosynthesis*; D005838:Genotype; D005914:Globins / Q000096:biosynthesis*; D006579:Heterozygote; D006801:Humans; D007128:Immunoglobulin Fragments; D007930:Leucine; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood / Q000235:genetics; D014316:Tritium
D000596:Amino Acids; D002250:Carbon Radioisotopes; D007128:Immunoglobulin Fragments; D014316:Tritium; D005914:Globins; D005319:Fetal Hemoglobin; D007930:Leucine