Thalassaemia in the British.
Different forms of thalassaemia or related disorders were found in 116 people of apparently pure British stock. Among them were one family with a child homozygous for beta-thalassaemia and eight heterozygous relatives, 16 families with 83 persons heterozygous for beta-thalassaemia, two families with three persons with Hb H disease and three heterozygous for alpha-thalassaemia 1, one family with a child apparently homozygous for the "silent beta-thalassaemia gene," one family with six members heterozygous for a form of beta-thalassaemia intermedia, and three families with 11 members heterozygous for different types of hereditary persistence of fetal haemoglobin. The clinical, haematological, and haemoglobin biosynthetic findings in these persons were similar to those of patients with thalassaemia from other racial groups. The heterozygous state for beta-thalassaemia is overlooked in British patients, particularly during pregnancy, because it is not considered in the differential diagnosis of refractory anaemia. In many cases this leads to much unnecessary investigation and potentially harmful treatment.There seem to be several varieties of hereditary persistence of fetal haemoglobin production among British people. These conditions, while not causing anaemia, may cause difficulties during examination of maternal blood for fetal cells and may, if inherited with a beta-thalassaemia gene, produce an unusually high level of Hb F in a person heterozygous for beta-thalassaemia.
D000293:Adolescent; D000740:Anemia / Q000175:diagnosis; D001609:Beta-Globulins; D002247:Carbon Isotopes; D003937:Diagnosis, Differential; D005260:Female; D005319:Fetal Hemoglobin; D006447:Hemoglobin H; D006453:Hemoglobinopathies / Q000453:epidemiology; D006801:Humans; D007930:Leucine / Q000378:metabolism; D008297:Male; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D006113:United Kingdom
D001609:Beta-Globulins; D002247:Carbon Isotopes; D005319:Fetal Hemoglobin; D006447:Hemoglobin H; D007930:Leucine