Table 1.

Laboratory results and clinical characteristics of the patient, mother, and one of his healthy brothers




Patient

Mother

Brother
Age, y   25   58   30  
Serum iron, μM   36*  15   13  
Transferrin saturation, %   94*  20   17  
Ferritin, μg/L   21 857*  NA   NA  
Fasting glucose, mM   7.1*  6.0   5.2  
AST/ALT, U/L   1258/1071*  14/17   21/32  
Skin pigmentation   +   −   −  
Arthropathy
 
+
 

 

 



Patient

Mother

Brother
Age, y   25   58   30  
Serum iron, μM   36*  15   13  
Transferrin saturation, %   94*  20   17  
Ferritin, μg/L   21 857*  NA   NA  
Fasting glucose, mM   7.1*  6.0   5.2  
AST/ALT, U/L   1258/1071*  14/17   21/32  
Skin pigmentation   +   −   −  
Arthropathy
 
+
 

 

 

Reference values: serum iron, 14-27 μM; transferrin saturation, 20%-55%; serum ferritin, 20-200 ng/mL; fasting glucose, 4.2-6.1 mM; AST, 5-35 U/L; and ALT, 5-41 U/L.

NA indicates not available; AST, aspartate aminotransferase; and ALT, alanine aminotransferase.

*

Indicates abnormal values.

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