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
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
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
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
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.