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An Unusual Compound Heterozygosity for Hb O-Arab ( HBB : c.364G>A) and Hb D-Los Angeles ( HBB : c.364G>C).
- 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.
- Subjects :
- Anemia, Hypochromic diagnosis
Chromatography, High Pressure Liquid
Consanguinity
Electrophoresis, Capillary
Female
Gene Expression
Heterozygote
Humans
Infant, Newborn
Sequence Analysis, DNA
beta-Globins deficiency
beta-Thalassemia diagnosis
Anemia, Hypochromic genetics
Hemoglobins, Abnormal genetics
Mutation
beta-Globins genetics
beta-Thalassemia genetics
Subjects
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