The First Iranian Case of Unstable Hemoglobin Santa Ana.
Hemoglobin
; 48(2): 125-128, 2024 Mar.
Article
in En
| MEDLINE
| ID: mdl-38500334
ABSTRACT
In this report, we describe a 6-year-old girl with a medical history of pallor, mild icterus, anemia, blood transfusion and abnormal hemoglobin variant analysis on capillary electrophoresis. She was referred for further analysis. DNA sequencing of the proband revealed a de novo mutation in Codon 88 (CTG > CCG) of the ß-globin gene (HBB c.266T > C) in a heterozygous state compatible with hemoglobin Santa Ana, an unstable hemoglobin. This is the first case of Hb Santa Ana from Iran associated with moderate to severe anemia who underwent splenectomy with clinical improvement.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hemoglobins, Abnormal
/
Beta-Globins
Limits:
Child
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Hemoglobin
Year:
2024
Document type:
Article
Affiliation country:
Iran
Country of publication:
United kingdom