Back to Search Start Over

An Unusual Compound Heterozygosity for Hb O-Arab ( HBB : c.364G>A) and Hb D-Los Angeles ( HBB : c.364G>C).

Authors :
van Gammeren AJ
Pelkmans L
Endschot CCWV
Roelofsen-de Beer RJAC
Harteveld CL
Source :
Hemoglobin [Hemoglobin] 2020 Jan; Vol. 44 (1), pp. 61-63. Date of Electronic Publication: 2020 Jan 23.
Publication Year :
2020

Abstract

We report a newborn with a compound heterozygosity for Hb O-Arab ( HBB : 364G>A) and Hb D-Los Angeles ( HBB : 364G>C). To the best of our knowledge, the combination of these two hemoglobin (Hb) variants has not been identified and reported before. The variants of the proband and parents were identified by high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). DNA analysis was performed to confirm the variants. The levels of Hb variants of the proband were determined post-partum, at 3 months and 1 year after birth. Blood count analysis after 1 year revealed that the proband had a mild microcytic anemia. Furthermore, HPLC and CE analysis revealed an equal distribution of Hb D-Los Angeles compared to Hb O-Arab at the age of 1 year. The follow-up of the patient, suggested that the Hb combination is clinically silent or mild.

Details

Language :
English
ISSN :
1532-432X
Volume :
44
Issue :
1
Database :
MEDLINE
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
31973650
Full Text :
https://doi.org/10.1080/03630269.2019.1710530