Hereditary Ring Sideroblastic Anaemia and Christmas Disease in a Swedish Family

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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.