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[Vitamin B6-sensitive hereditary sideroblastic anemia].
Dtsch Med Wochenschr. 2004 Jan 23; 129(4):141-4.DM

Abstract

HISTORY

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.

Authors+Show Affiliations

Medizinische Abteilung, Kreisklinik München-Perlach, München, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

14724775

Citation

Heller, T, et al. "[Vitamin B6-sensitive Hereditary Sideroblastic Anemia]." Deutsche Medizinische Wochenschrift (1946), vol. 129, no. 4, 2004, pp. 141-4.
Heller T, Höchstetter V, Basler M, et al. [Vitamin B6-sensitive hereditary sideroblastic anemia]. Dtsch Med Wochenschr. 2004;129(4):141-4.
Heller, T., Höchstetter, V., Basler, M., & Borck, V. (2004). [Vitamin B6-sensitive hereditary sideroblastic anemia]. Deutsche Medizinische Wochenschrift (1946), 129(4), 141-4.
Heller T, et al. [Vitamin B6-sensitive Hereditary Sideroblastic Anemia]. Dtsch Med Wochenschr. 2004 Jan 23;129(4):141-4. PubMed PMID: 14724775.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Vitamin B6-sensitive hereditary sideroblastic anemia]. AU - Heller,T, AU - Höchstetter,V, AU - Basler,M, AU - Borck,V, PY - 2004/1/16/pubmed PY - 2004/2/19/medline PY - 2004/1/16/entrez SP - 141 EP - 4 JF - Deutsche medizinische Wochenschrift (1946) JO - Dtsch Med Wochenschr VL - 129 IS - 4 N2 - HISTORY: 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. SN - 0012-0472 UR - https://www.unboundmedicine.com/medline/citation/14724775/[Vitamin_B6_sensitive_hereditary_sideroblastic_anemia]_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2004-817607 DB - PRIME DP - Unbound Medicine ER -