Further Data on Genetics of Microcythaemia or Thalassaemia Minor and Cooley's Disease or Thalassaemia Major

Abstract

The articles published by the Annals of Eugenics (1925–1954) have been made available online as an historical archive intended for scholarly use. The work of eugenicists was often pervaded by prejudice against racial, ethnic and disabled groups. The online publication of this material for scholarly research purposes is not an endorsement of those views nor a promotion of eugenics in any way.

Protection Afforded by Sickle-cell Trait Against Subtertian Malarial Infection

“…The problems presented by the two diseases are very similar; many homozygotes, and possibly some heterozygotes, are known to die of thalassaemia, and yet the condition remains remarkably common in Italy and Greece, where as many as 10% of the individuals in certain areas are affected (Bianco et al, 1952). Greek and Italian authors have commented that cases of thalassaemia usually come from districts severeLy afflicted wtih malaria (Choremis et al, 1951).…”

“…Greek and Italian authors have commented that cases of thalassaemia usually come from districts severeLy afflicted wtih malaria (Choremis et al, 1951). Perhaps those who are heterozygous for the thalassaemia gene suffer less from malaria than their compatriots: the fertility of the heterozygotes appears to be greater (Bianco et al, 1952). Selective advantage of the heterozygote with the sickle-cell gene, and possibly the heterozygote with the thalassaemia gene also, would explain why such high gene frequencies can be attained in the case of these conditions while other genetically transmitted abnormalities of the blood cells remain uncommon, not very much above the estimated mutation rate-for example, hereditary spherocytosis (Race, 1942).…”

Genetic Prognosis

“…The most notable example at the present time is provided by Cooley's anaemia, thalassaemia major, the gene for which occurs with such extremely high frequency in some areas, notably parts of the Mediterranean basin. In some parts of Italy the gene frequency is very high (Bianco et al, 1952). In the province of Ferrara I person in 10 carries the gene, and in certain townships no less than one in five.…”

Observations on the Minor Basic Hemoglobin Component in the Blood of Normal Individuals and Patients with Thalassemia

“…According to the data collected by Bianco, Montalenti, Silvestroni, and Siniscalco (18), the hematological features most useful for discriminating between normal individuals and thalassemia carriers are in the order: the mean corpuscular volume, the osmotic fragility and the red cell count, with a probability of correctness under optimal laboratory conditions of 98.85 per cent, 98.84 per cent, and 91.90 per cent, respectively (19). Analyses of the data obtained in the present study indicate that the efficiency of the A2 determination (94 per cent) is of the same order.…”