Coinheritance of HbO Arab/β0-thalassemia with Severe Manifestation in Newborn

Miniar Kalai; Imen Moumni; Houyem Ouragini; Dorra Chaouechi; Imen Boudriga; Samia Menif

doi:10.1055/s-0042-1743185

American Journal of Perinatology, Table of Contents

Am J Perinatol 2024; 41(05): 594-597
DOI: 10.1055/s-0042-1743185

Original Article

Coinheritance of HbO Arab/β⁰-thalassemia with Severe Manifestation in Newborn

Miniar Kalai

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

,

Imen Moumni

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

,

Houyem Ouragini

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

,

Dorra Chaouechi

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

,

Imen Boudriga

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

,

Samia Menif

¹Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia

› Author Affiliations

Abstract

Objective In this study, we report a Tunisian newborn boy referred for neonatal hemolytic anemia with yellowish skin and enlarged spleen due to coinheritance of hemoglobin O (HbO) Arab and β-thalassemia.

Study Design Hematological parameters were collected using an automated blood cell counter. The amounts of Hb fractions were measured by capillary electrophoresis of Hb. Amplification and sequencing of the HBB gene were performed by Sanger's method.

Results Family study and genetic analysis revealed that the proband was a carrier of two hemoglobinopathies: HbO Arab and β⁰-thalassemia.

Conclusion The coexistence of these two pathologies complicated the general state of the newborn boy and led to a severe anemia at birth.

Key Points

Severe neonatal anemia can be caused by hemoglobinopathy.
Coinheritance of HbO Arab/β⁰-thalassemia complicated the general state of the newborn.
Diagnosing hemoglobinopathy at an early age improves patient care.

Keywords

HbO Arab/β⁰-thalassemia - newborn - anemia

Full Text

References

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