Primary or Essential Sideroachrestic Anaemias

Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings *

“…Indeed, the anemia observed in these children is due to iron deficiency of the bone marrow, but the associated elevation of serum iron concentration and massive hepatic iron deposition are unique features that considerably complicate the problem. These two children differ markedly from patients with refractory hypochromic hypersideremic anemia whose case histories have been reported to date (23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38). Three major functions (iron stores, erythrocyte life span, and kinetics of Fe59 utilization) distinguish hypersideremic anemia from the present cases.…”

“…Thus, in previously studied cases (25,(27)(28)(29)(30)34), the calculated percentage of uptake of Fe59 by red cells, 10 days after iv administration of radioiron, varied from 5 to 36%o. Of this reduced Fe59 incorporation, an even smaller fraction may actually be located in the hemoglobin.…”

Hypochromic Anaemia without Iron Deficiency

“…The condition is probably subject to X-chromosomal transmission, and is known as hereditary sideroachrestic anaemia. It was first described by Cooley (7) and subsequently by many other investigators (13, 17, 20,27). No abnormal haemoglobin is found in these patients and there are no changes in the amount of haemoglobin A2 or haemoglobin F. Table 111 presents a number of data on a few patients with this condition whom we examined.…”

Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a negro family

“…One such female subject responded to pyridoxine therapy (5). Response to pyridoxine has been reported by several investigators in "hereditary" and "acquired" type of sideroblastic anemias (3,9,10,14,15,(42)(43)(44)(45). Pyridoxine administration (100 mg daily) for 6 months resulted in an increase in the hemoglobin concentration of 2-4 g/100 ml in the two cases (II-2, 11-16) indicating a partial response.…”