title: Hereditary ring sideroblastic anaemia and Christmas disease in a Swedish family.
abstract: The association of hereditary ring sideroblastic anaemia with Christmas disease in a Swedish family is described. We have studied the transmission of the sideroblastic trait, in relation to HLA groups and Christmas disease, and also evaluated the erythrocyte morphology, uroporphyrinogen-I-synthetase activity and S-ferritin for the detection of latent cases of ring sideroblastic anaemia. The proband had ring sideroblastic anaemia, Christmas disease and haemochromatosis. 3 cases of ring sideroblastic anaemia were found among the 12 family members studied. Using the factor IX deficiency as a marker of the X chromosome, it appeared that autosomal transmission of the sideroblastic trait was most likely. The sideroblastic trait did not seem to be linked to HLA-A3-alloantigen. Erythrocyte morphology was normal in all non-anaemic subjects. S-ferritin was found to be increased in all 3 cases of sideroblastic anaemia as well as in 1 non-anaemic relative. Erythrocyte uroporphyrinogen-I-synthetase was elevated in 10 of the 12 family members; those with sideroblastic anaemia had the highest values indicating that uroporphyrinogen-I-synthetase is of importance in the disturbed haem-synthesis of ring sideroblastic anaemia. This interpretation is supported by the positive correlation between S-ferritin values and the uroporphyrinogen-I-synthetase activity.
mesh_terms: D000756:Anemia, Sideroblastic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004796:Clinical Enzyme Tests; D048909:Diabetes Complications; D004905:Erythrocyte Aging; D004913:Erythrocytes, Abnormal / Q000201:enzymology; D005293:Ferritins / Q000097:blood; D006680:HLA Antigens / Q000276:immunology; D006432:Hemochromatosis / Q000150:complications; D002836:Hemophilia B / Q000150:complications / Q000235:genetics*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000378:metabolism; D008103:Liver Cirrhosis / Q000150:complications; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013548:Sweden
chemical_list: D006680:HLA Antigens; D005293:Ferritins; D011163:Hydroxymethylbilane Synthase