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Case Reports
. 2024 Jul 1;63(13):1929-1932.
doi: 10.2169/internalmedicine.2775-23. Epub 2023 Nov 20.

Asymptomatic Acute Cerebral Infarction in a Patient with Hemoglobin Köln

So Okubo  1 , Taichi Tamagawa  1 , Minako Yamada  1 , Taro Bannai  1 , Tomonari Seki  1 , Kensuke Usuki  2 , Yasushi Shiio  1
Affiliations
Case Reports

Asymptomatic Acute Cerebral Infarction in a Patient with Hemoglobin Köln

So Okubo et al. Intern Med. .

Abstract

Congenital hemoglobin disorders typically present as hemolytic anemia, but there are also numerous reports of thrombotic complications in these diseases, suggesting an associated hypercoagulative state. In hemoglobin Köln, the most common type of unstable hemoglobinopathy worldwide, there have not been many reports of such thrombotic phenomena. We herein describe the case of a patient with hemoglobin Köln demonstrating acute cerebral infarction. His father, who also had hemolytic anemia, presumably hemoglobin Köln, had a history of cerebral infarction. This case suggests that hemoglobin Köln, among other congenital hemoglobin disorders, may be a precipitating factor of thrombotic events.

Keywords: congenital hemoglobin disorder; embolic stroke of unknown origin; hemoglobin Köln; unstable hemoglobinopathy.

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Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure.
Figure.
a) The peripheral blood smear did not show abnormal red blood cells, including Heinz bodies. b, c) Diffusion-weighted imaging of the brain showed two small diffusion-restricted areas in the cerebral cortex, both within the territory of the right middle cerebral artery. d) Magnetic resonance arterial imaging of the cerebral arteries. There was no evidence of arterial stenosis. e) The pedigree of the patient’s family. The proband (III-1) and his father (II-1) experienced acute cerebral infarction. c.295 G>A (p.Val99Thr) (NM_000518) in the HBB gene was confirmed in the patient (III-1) and his daughter (IV-1).
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