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Variations in Globin Chain Synthesis in Hereditary Persistence of Fetal Haemoglobin
Author(s) -
Friedman Shlomo,
Schwartz Elias,
Ahern Edgar,
Ahern Valda
Publication year - 1976
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1976.tb00939.x
Subject(s) - fetus , fetal hemoglobin , persistence (discontinuity) , globin , medicine , genetics , biology , immunology , pregnancy , gene , geotechnical engineering , engineering
Globin synthesis was studied in four Negro families including 10 members with Hb A‐HPFH and four with Hb S‐HPFH. The β/α specific activity ratios in 10 of these HPFH heterozygotes were similar to those of the control group. In two patients with Hb A‐HPFH, the β/α ratio was slightly decreased in one (0.84) and clearly decreased in another (0.78). In two of the patients with Hb S‐HPFH the ratios were clearly decreased (0.71 and 0.75). The extended range of β/α ratios in these 14 patients is similar to that of Negro patients with β‐thalassaemia trait. These studies indicate that a decreased β/α ratio may be found in HPFH, as well as in β‐thalassaemia. Bone marrow globin synthesis was measured in two patients with Hb S‐HPFH and decreased peripheral blood β/α ratios, and in one with Hb A‐HPFH and a normal peripheral blood β/α ratio. In each patient the (β+γ)/α ratio of radioactivities as well as the β/α specific activity ratio was close to 1 and therefore balanced, indicating more rapid decay of β‐chain synthesis relative to α‐chain during red cell maturation or extremely rapid destruction of newly synthesized excess α‐chains in the bone marrow.