First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation.

Abstract

HBB gene mutations lead to many kinds of diseases, of which, except for the two most common diseases of thalassemia and sickle cell anemia, rare kinds of hemolytic anemia, such as hemoglobin Bristol-Alesha, are rarely reported, no ideal treatment in clinic. A child suffered from chronic recurrent hemolytic attacks and the related genes of hereditary hemolytic anemia were detected on her. Hematopoietic stem cell transplantation was conducted in the treatment of the patient. The patient was diagnosed as hemoglobin Bristol-Alesha and achieved complete recovery after hematopoietic stem cell transplantation. For Bristol-Alesha, without characteristic clinical manifestation and specific biochemical examination, diagnosis is dependent on the gene mutation detection and hematopoietic stem cell transplantation is an effective and curable method.

• Authors: Shanshan Li, Kai Chen, Can Huang, Na Zhang, Hui Jiang, Shayi Jiang
• Journal: Annals of hematology (Ann Hematol) Vol. 101 Issue 3 Pg. 617-619 (Mar 2022) ISSN: 1432-0584 [Electronic] Germany
• PMID: 34851438 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Alesha
• hemoglobin Bristol

Topics

• Anemia, Hemolytic, Congenital (genetics, therapy)
• Female
• Hematopoietic Stem Cell Transplantation
• Hemoglobinopathies (genetics, therapy)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant
• Treatment Outcome