Hereditary polycythemia caused by mutation of ANK1 gene:a case report / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 691-693, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-610760
ABSTRACT
Objective To explore the genetic characteristics, diagnosis, and treatment of hereditary spherical polycythemia (HS). Methods The clinical data of one case of HS was analyzed retrospectively, and related literatures were reviewed. Results The 5-year-old girl presented hemolytic anemia from 6 months old. Incubation of fragility tests was positive. Blood smears and red cell electron microscopy showed spherical red blood cells. DNA sequencing showed alterations in heterozygosity of stopgain SNV. The girl was diagnosed was HS, and was scheduled to undergo splenectomy at 6 years old. Conclusions HS is an autosomal dominant genetic disease, mainly manifested as anemia, hemolytic anemia, and splenomegaly. The early diagnosis depends on genetic testing.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Screening study
Language:
Chinese
Journal:
Journal of Clinical Pediatrics
Year:
2017
Type:
Article
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