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[Vitamin B6-sensitive hereditary sideroblastic anemia].

AbstractHISTORY:
A 30-year-old patient was admitted for investigation of microcytotic, hypochromic anemia (hemoglobin 8.3 g/dl) with splenomegaly.
INVESTIGATIONS:
Bone marrow smear showed a normocellular marrow with augmented severely dysplastic erythropoesis. Prussian-blue staining revealed an increased number of ring sideroblasts, thus myelodysplastic syndrome (refractory anemia with ringsideroblasts) was suspected.
DIAGNOSIS AND TREATMENT:
Review of former laboratory values and investigations of the patient's family revealed the correct diagnosis of x-linked sideroblastic anemia (XLSA). The patient was treated with oral pyridoxine. Hemoglobin levels steadily increased, so the diagnosis of pyridoxine-responsive sideroblastic anemia was made. Liver biopsy showed secondary fibrosis with beginning cirrhosis due to iron overload. Therapy with deferoxamine and phlebotomies was initiated.
CONCLUSION:
XLSA is a rare differential diagnosis of acquired forms of sideroblastic anemias. A high degree of clinical suspicion is necessary for diagnosis because morphological studies such as histology and cytology may not yield conclusive results. A correct diagnosis is especially important because of the uncomplicated therapeutic options.
AuthorsT Heller, V Höchstetter, M Basler, V Borck
JournalDeutsche medizinische Wochenschrift (1946) (Dtsch Med Wochenschr) Vol. 129 Issue 4 Pg. 141-4 (Jan 23 2004) ISSN: 0012-0472 [Print] Germany
Vernacular TitleVitamin-B6-sensible hereditäre sideroblastische Anämie.
PMID14724775 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • Hemoglobins
  • Iron Chelating Agents
  • Vitamin B 6
  • Ferritins
  • Deferoxamine
Topics
  • Administration, Oral
  • Adult
  • Anemia, Sideroblastic (diagnosis, drug therapy, genetics)
  • Bone Marrow (pathology)
  • Deferoxamine (therapeutic use)
  • Diagnosis, Differential
  • Ferritins (blood)
  • Genetic Diseases, X-Linked (diagnosis, drug therapy, genetics)
  • Hematologic Tests
  • Hemoglobins (analysis)
  • Humans
  • Iron Chelating Agents (therapeutic use)
  • Liver (pathology)
  • Male
  • Pedigree
  • Vitamin B 6 (administration & dosage, therapeutic use)

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