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
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Imen Moumni
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Dorra Chaouechi
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Imen Boudriga
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
,
Samia Menif
1   Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
› Institutsangaben
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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.



Publikationsverlauf

Eingereicht: 20. August 2021

Angenommen: 18. Januar 2022

Artikel online veröffentlicht:
21. Februar 2022

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