Part of X-linked sideroblastic anemia usually appearing after the age of 12 years. Hemorrhagic risk and consequences of anemia must be considered before anesthesia. 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.
X-linked recessive or de-novo mutations.
Around 200 patients described.
Mutations in the ALAS2 gene on Xp11.21. This gene encodes the erythroid form of delta amino levulinic acid synthase. An altered function leads to impaired heme synthesis. The increased ineffective and expanded erythropoiesis leads to increased absorption of dietary iron and a risk of iron overload.
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.
Precautions before anesthesia
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 when normally minimal risk of bleeding.
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.
Other condition to be considered
Faber Syndrome (Faber Anemia; Achylanemia; Achylia Gastrica with Anemia; Achylic Achloranemia; Anemia Achlorhydria 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.
MD: Sideroblastic anemia: Diagnosis and management. Hematol Oncol Clin North Am
HF: Hereditary (sex-linked) anemia. Am J Med Sci