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Congenital anemia usually appearing after the age of 12 years. Hemorrhagic risk and consequences of anemia must be considered before anesthesia. Without treatment, pyridoxine deficiency can also be observed.

Hereditary Iron-Loading Anemia Syndrome; Pyridoxine-Responsive Anemia; Sideroblastic Anemia Syndrome.

First described by the American physicians Ralph Wayne Rundles and Harold Francis Falls, in 1946.

Always female transmission, but some cases of X-linked inheritance.

Clinical and biological: usually occurs after patient is 12 years old; characterized by red cell abnormalities, enlargement of the spleen, and responsiveness to pyridoxine without signs of pyridoxine deficiency.

Other clinical features include weakness, fatigue, occasionally leg pain and paresthesias of the feet, pallor, hepatomegaly and splenomegaly. Pretibial edema and skin pigmentation may occur. Females usually have erythrocyte abnormalities without anemia and an enlarged spleen.

Evaluate degree of anemia (clinical, hematocrit) and splenomegaly (echography).

Large-size venous access is preferred because of the significant risk of hemorrhagic complications and transfusion possibility. Perioperative invasive monitoring (and transfusion) is recommended in case of severe anemia. Preoperatively cross-matched blood must be available before any surgical procedure presenting even minimal risk of bleeding normally.

Regional anesthesia is not contraindicated but the risk has to be clearly explained to patient because of paresthesia that can occur during the evolution of the disease.

Faber Syndrome (Faber Anemia; Achylanemia; Achylia Gastrica with Anemia; Achylic Achloranemia; Anemia Achlorhydrica Simplex; Chronic Hypochromic Anemia): Caused by deficient intake absorption or metabolism of iron. Characterized by small, pale-red erythrocytes and associated with achlorhydria, glossalgia, koilonychia, pallor fatigability, and premature graying of the hair; occurs more often in women than in men in the third to fifth decades.

Rundles RW, Falls HF: Hereditary (sex-linked) anemia. Am J Med Sci 211:641, 1946.

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