October 27, 2010

PLAB Question 19

Consider the following values - MCV: Decreased; Serum ferritin: Increased; Total iron binding capacity: Normal; Serum iron: Increased; Marrow iron: Present.

The most likely diagnosis is:

a) Thalassaemia trait
b) Hypoparathyroidism
c) Hereditary sideroblastic anaemia
d) Protein energy malnutrition
e) Chronic renal failure
f) Anaemia of chronic disease
g) Acute blood loss
h) Iron deficiency anaemia
i) Oral contraceptives
j) Megaloblastic anaemia








ANSWER
The correct answer is C



Explanation
Patients with a defect in mitochondrial function resulting in a sideroblastic anaemia can also present with a microcytic, hypochromic anaemia.

Hereditary sideroblastic anaemia is a rare condition that presents in childhood either as an X-linked or autosomally inherited condition. Red blood cell morphology is typically dimorphic, and measurements of iron supply make the distinction from iron deficiency quite easy.

Patients who develop an acquired ringed sideroblastic anaemia typically exhibit excessive iron accumulation, even to the point of tissue iron overload. Their red blood cell morphology can be quite variable, while marrow morphology demonstrates the pathognomonic finding of ringed sideroblasts.

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