[Hereditary sideroblastic anemia: a rare diagnosis].

Abstract

Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

• Authors: N Brahem-Jmili, N Salem, S Abdelkefi, B Grand Champ, S Bekri, H Sboui, T Mahjoub, S Yacoub, M Kortas
• Journal: Annales de biologie clinique (Ann Biol Clin (Paris)) 2004 May-Jun Vol. 62 Issue 3 Pg. 349-52 ISSN: 0003-3898 [Print] France
• Vernacular Title: Anémie sidéroblastique héréditaire: une maladie rare.
• PMID: 15217771 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Anemia, Sideroblastic (diagnosis, genetics)
• Humans
• Infant
• Male