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| IMAGE IN HEMATOLOGY |
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| Year : 2013 | Volume
: 4
| Issue : 4 | Page : 160-161 |
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Transfusion dependent congenital sideroblastic anemia
Nasir A Bakshi, Yasmeen Abulkhair
Department of Pathology and Laboratory Medicine, Hematopathology Section, Riyadh, Saudi Arabia
| Date of Web Publication | 26-Feb-2014 |
Correspondence Address:
Nasir A Bakshi
Po Box 3354, MBC-10, Hematopathology, KFSH&RC, Riyadh
Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1658-5127.127906
How to cite this article:
Bakshi NA, Abulkhair Y. Transfusion dependent congenital sideroblastic anemia. J Appl Hematol 2013;4:160-1 |
A 6-year-old female child was admitted for investigation and management of periodic fever associated with vomiting, diarrhea, abdominal pain, and occasional dark urine. Her history started from the 1 st day of life when she was found to have severe anemia with hemoglobin of less than 5 gm/L, for which she received packed red cell transfusions. She continued to be transfusion dependent till last follow-up. Extensive workup for the known periodic fever syndromes (autoinflammatory disease) was not conclusive or diagnostic for any particular disease. A trial of colchicine for 2 months resulted in partial effect with less fever attacks and decrease in blood transfusion requirement. Her family history is significant for an older sister, who died at the age of 8 years with similar symptoms but without any specific diagnosis. She has a younger sister, who recently developed similar symptoms. Parents are consanguineous. CBC at admission showed: WBC 6.37 × 10^9/L, RBC 4.67 × 10^12/L, HGB 92 g/L, HCT 0.291, MCV 62.3 fL, MCH 19.7 pg, MCHC 316 g/L, RDW 30.6%, Platelet count 197 × 10^9/L. Differential was significant for left shift and presence of circulating NRBC. Reticulocyte count was 78.0 × 10^9/L. Peripheral blood smear examination showed marked anisopoikilocytosis with moderate microcytic hypochromic cells and dimorphic blood picture [Figure 1]a, moderate polychromasia, coarse basophilic stippling, red cell inclusions in the form of Pappenheimer bodies. No dysplasia or blast cells were detected. The Hb electrophoresis, hemolysis work-up, red cell enzyme studies, osmotic fragility, PNH evaluation, and heat stability test were within normal limits. Serum iron studies showed features of iron overload with high serum ferritin. Bone marrow examination showed hypercellular marrow with severe erythroid hyperplasia associated with many ring sideroblasts, the latter being very prominent within the later stages of erythroid maturation confirmed by electron microscopy [Figure 1]b-d. There was no evidence of myeloid or megakaryocytic dysplasia. | Figure 1: (a) Peripheral blood smear, Geimsa Wright stain (×200) (b) Bone marrow aspirate, Geimsa Wright stain (×500) (c) Ring Siderblasts, Perls stain (×1000) (d) Electron Microscopy with electron dense mitochondira (×3000)
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Congenital sideroblastic anemias (CSAs) are rare and a diverse group of inherited hematopoietic disorders characterized by the presence of ringed sideroblasts in erythroid precursors, usually hypochromic erythrocytes and variable degrees of iron overload resulting from pathological deposition of iron in the mitochondria of erythroid precursors. Recently, the genetic causes of several clinically distinctive forms of CSA have been elucidated. Most of these are attributed to disordered mitochondrial heme synthesis, iron-sulfur cluster biogenesis, or pathways related to mitochondrial protein synthesis. The most frequent form is X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. However, autosomal recessive (AR), dominant, and mitochondrial pattern of inheritance have also been documented. Clinical history of transfusion dependence and pyridoxine unresponsiveness indicates an autosomal recessive type of sideroblastic anemia, the most well-known of these resulting from SCL25A38 gene mutation, which codes for an amino-acid transporter in the mitochondria, although other AR mutations are also implicated. The severity of anemia, age of presentation, and the response to high-dose pyridoxine are important clinical variables. The early detection of these cases may lead to early institution of pyridoxine, which may be therapeutic in many cases of congenital sideroblastic anemia and prevent long-term complications of anemia.
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