Fatigue, reduced endurance and dizziness | Figure 1

Fatigue, reduced endurance and dizziness

A middle-aged patient complained of gradually developing fatigue, reduced endurance and occasional dizziness over the last few months. The patient reported mild pallor, easy bruising but no overt bleeding, significant weight loss or night sweats. The patient had conjunctival pallor on physical examination but no lymphadenopathy, and mild hepatomegaly. Cardiovascular and respiratory findings were normal, with no evidence of heart failure or peripheral edema.

Preliminary laboratory investigations showed a mild microcytic, hypochromic anemia with hemoglobin slightly less than the lower normal limit. Iron studies showed increased serum iron and transferrin saturation but normal to reduced total iron-binding capacity. Vitamin B12 and folate were normal. Peripheral smear examination revealed Pappenheimer bodies and basophilic stippling, leading to additional hematologic workup. The low reticulocyte count in relation to anemia suggested insufficient erythropoiesis rather than increased red cell loss.

Since the smear was unusual and the iron parameters did not match, a bone marrow aspiration and biopsy were carried out. On microscopical examination of the marrow, there was erythroid hyperplasia and many ring sideroblasts on Prussian blue stain (iron-laden mitochondria that encircle the nuclei of erythroids). Cytogenetics and molecular testing was requested to assess for acquired clonal processes such myelodysplastic syndrome with ring sideroblasts; other workups were performed to rule out secondary causes, in this case alcohol consumption, lead exposure and use of medications affecting heme synthesis.

A diagnosis of sideroblastic anemia was confirmed. Management of the patient included investigation and treatment of possible reversible causes, and high-dose pyridoxine supplementation in an attempt to improve residual enzymatic activity in heme synthesis. Long-term management involved dialogue concerning iron overload surveillance and chelation therapy.

Diagnosis added by author

Sideroblastic anemia

Female patient, 14 yrs old

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By examination:

Investigation:

Female patient, 12 years old

Female patient, 12 years old has developed vitiligo of 1.5 year duration then has developed 6 months ago weight loss, hair loss, loss of appetite and fever (low grade, more at night, without chills or night sweating and relieved by antipyretic). Of one month duration she has developed arthralgia and pallor.

By examination:

By investigation:

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