Korean J Hematol.  2005 Mar;40(1):49-53. 10.5045/kjh.2005.40.1.49.

A Case of Hereditary Sideroblastic Anemia

• Jun KR
• Sohn YH
• Park CJ
• Jang SS
• Chi HS
• Seo JJ

• KMID: 2252367
• DOI: http://doi.org/10.5045/kjh.2005.40.1.49

Abstract

We experienced a case of pyridoxine refractory hereditary sideroblastic anemia (HSA) in a 4 year-old girl and; therefore, conducted a study of her family. She was admitted to hospital for anemia, which was uncorrected by iron treatment. The peripheral blood smears showed hypochromic microcytic anemia. The results of the biochemical study indicated serum iron of 80 microgram/dL, TIBC of 275 microgram/dL and serum ferritin of 67ng/dL. The bone marrow smears showed 80% cellularity, with mild dyserythropoiesis. Many ringed sideroblasts, 45% of normoblasts and an increased amount of hemosiderin particles were observed with iron staining. Despite high-dose pyridoxine therapy, the anemia was not corrected. In the peripheral blood and iron studies conducted on her family members, the mother, maternal aunt and aunt's son showed microcytic hypochromic anemia and normal iron metabolism. Her mother's brother had died of acute myeloid leukemia that had transformed from myelodysplastic syndrome. From a search of the Korean literature, this is the first reported case of HSA with pedigree.

Keyword

Pyridoxine refractory hereditary sideroblastic anemia

MeSH Terms

Anemia
Anemia, Hypochromic
Anemia, Sideroblastic*
Bone Marrow
Child, Preschool
Erythroblasts
Female
Ferritins
Hemosiderin
Humans
Iron
Leukemia, Myeloid, Acute
Metabolism
Mothers
Myelodysplastic Syndromes
Pedigree
Pyridoxine
Siblings
Ferritins
Hemosiderin
Iron
Pyridoxine