Article ; Online: The first Chinese with Hb Chile leading to chronic anemia and methemoglobinemia: a case report.
2023 Volume 23, Issue 1, Page(s) 639
Abstract: Background: Hemoglobin (Hb) Chile [β28(B10) Leu > Met; HBB: c.85 C > A] is a rare hemoglobin variant caused by a missense mutation in the HBB gene. Only one case of Hb Chile has been reported worldwide so far. It is an unstable hemoglobin, characterized ...
| Abstract | Background: Hemoglobin (Hb) Chile [β28(B10) Leu > Met; HBB: c.85 C > A] is a rare hemoglobin variant caused by a missense mutation in the HBB gene. Only one case of Hb Chile has been reported worldwide so far. It is an unstable hemoglobin, characterized by cyanosis associated with chronic methemoglobinemia and hemolytic anemia induced by sulfonamides or methylene blue. Case presentation: A 9-year-3-month-old girl had mild anemia of unknown etiology for more than 6 years. She had a slight pallor without other symptoms or signs. The complete blood count revealed normocytic normochromic anemia with a sometimes-elevated reticulocyte count, and the bone marrow cytology showed marked erythroid hyperplasia, but the tests related to hemolysis were normal. Therefore, the whole exome sequencing was performed and showed a heterozygous mutation for HBB: c.85 C > A. With asymptomatic methemoglobinemia confirmed later, she was eventually diagnosed with Hb Chile. Conclusions: This is the first report of Hb Chile in China and the second worldwide. This case shows that Hb Chile is clinically heterogeneous and difficult to diagnose and expands our understanding on the clinical and hematological traits of the disease. |
|---|---|
| MeSH term(s) | Female ; Humans ; Infant ; Methemoglobinemia/diagnosis ; Methemoglobinemia/genetics ; Hemoglobins, Abnormal/genetics ; Anemia, Hemolytic/diagnosis ; Anemia, Hemolytic/genetics ; China |
| Chemical Substances | hemoglobin Chile ; Hemoglobins, Abnormal |
| Language | English |
| Publishing date | 2023-12-18 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2041342-7 |
| ISSN | 1471-2431 ; 1471-2431 |
| ISSN (online) | 1471-2431 |
| ISSN | 1471-2431 |
| DOI | 10.1186/s12887-023-04462-8 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.