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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
van Gammeren AJ,Pelkmans L,Endschot CCWV,Roelofsen-de Beer RJAC,Harteveld CLdoi
10.1080/03630269.2019.1710530subject
Has Abstractpub_date
2020-01-01 00:00:00pages
61-63issue
1eissn
0363-0269issn
1532-432Xjournal_volume
44pub_type
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