Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β -thalassemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1130-1132, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776729
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Hemoglobins, Abnormal
/
Genetic Testing
/
Beta-Thalassemia
/
Alpha-Globins
/
Beta-Globins
/
Genetics
/
Heterozygote
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article