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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 1
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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)

Adriaan J. van GammerenDepartment of Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-6975-2476
ORCID Icon,
Leonie PelkmansDepartment of Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands;
,
Corné C.W. van EndschotDepartment of Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands;
,
Roseri J.A.C. Roelofsen-de BeerDepartment of Clinical Chemistry and Hematology, Amphia Hospital, Breda, The Netherlands;
&
Cornelis L. HarteveldThe Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Pages 61-63 | Received 29 Oct 2019, Accepted 10 Dec 2019, Published online: 23 Jan 2020
 
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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.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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