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J Neurol Neurosurg Psychiatry 70:65-69 doi:10.1136/jnnp.70.1.65
  • Paper

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Haematological findings

III.3 III.2 II.5 II.2 II.1 Normal values
Sex M M F M M
Age (y) 50 52 74 63 78
Genetic status A A OC A A
Packed cell volume (%) 42 36 41 29 0.39–0.50
MCV (fl) 77 84 93 74 83 78–98
FEP (μmol /litre) 4.9 3.1 1.4 0.4–1.7
Ferritin (μg /l) 125 95 135 38 14–200
Iron (μmol /l) 30 20 19 14–33
Ring sideroblasts yes
Hb (g/dl) 14.3 12.1 13.1δ 13.5 10.2 13–17
TIBC (μmol /l) 67 39 63 45–75
Blood film Hypochromic red cells Anisocytosis Pappenheimer bodies
Pappenheimer bodies Poikilocytosis
Target cells
Howell-Jolly bodies
Pappenheimer bodies
  • A=Affected; OC=obligate carrier; MCV=mean corpuscular volume; FEP=free erythrocyte protoporphyrin concentration; Hb=haemoglobin concentration; δ Female Hb range=11.5–16.0

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