A hereditary form of familial sideroblastic anaemia, occurring in males. In a minority, anaemia is congenital or discovered during childhood. In the majority, discovered between 12 to 87 years. The disturbance is characterized by red cell abnormalities, enlargement of the spleen, and responsiveness to pyridoxine. Symptoms associated with pyridoxine deficiency, such as mental retardation, convulsions, peripheral neuropathy, glossitis, dermatitis lacking in these patients. There is weakness; tiredness; occasionally, leg pain and paresthesias of feet; pallor, hepatomegaly, and splenomegaly. Occasionally, pretibial oedema and skin pigmentation. The condition is transmitted by females – many of whom have enlarged spleens and erythrocyte abnormalities without anaemia. In some cases X-linked inheritance.
- T. B. Cooley:
A severe type of hereditary anemia with elliptocytosis interesting sequence of splenectomy.
American Journal of the Medical Sciences, Thorofare, N.J, 1945, 209: 561-568.
- R. W. Rundles, H. F. Falls:
Hereditary (sex-linked) anemia.
American Journal of the Medical Sciences, Thorofare, N.J., 1946, 211: 641-658.