Hemoglobin variant (hemoglobin Aalborg) mimicking interstitial pulmonary disease.
Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances. Our index person was a healthy woman of 58, not previously diagnosed with hemoglobinopathy Aalborg, who developed acute respiratory failure after a routine cholecystectomy. Initially she was suspected of idiopathic interstitial lung disease, yet a series of tests uncovered various abnormal physiological parameters and set the diagnosis of hemoglobinopathy Aalborg. This led us to examine a group of the index person's relatives known with hemoglobinopathy Aalborg in order to study whether the same physiological abnormalities would be reencountered. They were all subjected to spirometry and body plethysmography, six-minute walking test, pulse oximetry, and arterial blood gas samples before and after the walking test. The entire study population presented the same physiological anomalies: reduction in diffusion capacity, and abnormalities in P(a)O2 and p50 values; the latter could not be presented by the arterial blood gas analyzer; furthermore there was concordance between pulse oximetry and arterial blood gas samples regarding saturation. These data suggest that, based upon the above mentioned anomalies in physiological parameters, the diagnosis of hemoglobinopathy Aalborg should be considered.
Department of Respiratory Diseases, Aalborg University Hospital, Mølleparkvej 4, 9000 Aalborg, Denmark.
Vasiliki
V
Panou
Department of Haematology, Aalborg University Hospital, Denmark.
Peter-Diedrich Mathias
PD
Jensen
Department of Clinical Biochemistry, Aalborg University Hospital, Denmark.
Jan Freddy
JF
Pedersen
Respiratory and Critical Care Group (RCARE), Centre for Model Based Medical Decision Support Systems, Department of Health Science and Technology, Aalborg University, Denmark.
Lars Pilegaard
LP
Thomsen
Department of Respiratory Diseases, Aalborg University Hospital, Mølleparkvej 4, 9000 Aalborg, Denmark.
Ulla Møller
UM
Weinreich
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005190:Family; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010993:Plethysmography, Whole Body; D013147:Spirometry; D055815:Young Adult
D006455:Hemoglobins, Abnormal; C066865:hemoglobin Aalborg