Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0271742 (
AAA
)
3,032
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Cytomorphologic signs of severe pernicious anemia obscured in a patient with heterozygous hemoglobin Stanleyville II. 1768 Aug 15
