[Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β -thalassemia].

Abstract

OBJECTIVE:

To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with β -thalassemia.

METHODS:

Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α - and β -globin genes were also analyzed.

RESULTS:

The proband and her mother were both heterozygotes for Hb Ottawa and β -thalassemia variant IVS II-654, and presented with typical β -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis.

CONCLUSION:

Co-existence of Hb Ottawa and β -thalassemia may not aggravate the phenotype.

• Authors: Xiaoxia Ma, Zekun Cai, Yanyan Peng, Jinxia Ma, Jing Zheng, Genzhong Cai
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 36 Issue 11 Pg. 1130-1132 (Nov 10 2019) ISSN: 1003-9406 [Print] China
• PMID: 31703143 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• alpha-Globins
• beta-Globins
• hemoglobin Siam

Topics

• Female
• Genetic Testing
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• alpha-Globins (genetics)
• beta-Globins (genetics)
• beta-Thalassemia (genetics)