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

Autor: Kalai M; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia., Moumni I; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ouragini H; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia., Chaouechi D; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia., Boudriga I; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia., Menif S; Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Jazyk: angličtina
Zdroj: American journal of perinatology [Am J Perinatol] 2024 Apr; Vol. 41 (5), pp. 594-597. Date of Electronic Publication: 2022 Feb 21.
DOI: 10.1055/s-0042-1743185
Abstrakt: 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 β 0 -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..
Competing Interests: None declared.
(Thieme. All rights reserved.)
Databáze: MEDLINE