Cytomorphologic signs of severe pernicious anemia obscured in a patient with heterozygous hemoglobin Stanleyville II.
Here, we report a rare coincidence of heterozygous hemoglobinopathy (Hb) Stanleyville II and severe pernicious anemia due to autoimmune gastritis. Hb Stanleyville II is characterized by a single base exchange (AAC-->AAA) resulting in a substitution Asn --> Lys at position 78 of hemoglobin alpha2-chain. Under normal conditions this hemoglobinopathy does not cause any symptoms even if present as homozygous variant. However, in our case diagnosis of pernicious anemia was hampered by the absence of typical erythrocytic macrocytosis and hyperchromasia. In addition, interpretation of bone marrow smears was difficult as characteristic findings for pernicious anemia were little pronounced. All known reasons for the absence of typical cytomorphologic signs in pernicious anemia as underlying iron deficiency and thalassemia could be excluded.
Department I of Internal Medicine, University of Cologne, Cologne, Germany.
Andreas
A
Draube
Jens M
JM
Chemnitz
Claudia
C
Wickenhauser
Peter
P
Staib
Michael
M
Hallek
Karl-Anton
KA
Kreuzer
D000328:Adult; D019943:Amino Acid Substitution; D000752:Anemia, Pernicious / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D006453:Hemoglobinopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D006455:Hemoglobins, Abnormal; C037389:hemoglobin Stanleyville II