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

被引：0

作者：

Kalai, Miniar ^{[1
]}

Moumni, Imen ^{[1
]}

Ouragini, Houyem ^{[1
]}

Chaouechi, Dorra ^{[1
]}

Boudriga, Imen ^{[1
]}

Menif, Samia ^{[1
]}

机构：

[1] Univ Tunis El Manar, Pasteur Inst Tunis, Lab Mol & Cellular Hematol, Tunis, Tunisia

来源：

AMERICAN JOURNAL OF PERINATOLOGY | 2024年 / 41卷 / 05期

关键词：

HbO Arab/beta(0)-thalassemia; newborn; anemia;

D O I：

10.1055/s-0042-1743185

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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 beta-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 beta (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.

引用

页码：594 / 597

页数：4

共 11 条

[1]

Bajwa H., 2021, StatPearls

[2] Hyperhemolytic Syndrome Complicating a Delayed Hemolytic Transfusion Reaction due to anti-P1 Alloimmunization, in a Pregnant Woman with HbO-Arab/β-Thalassemia [J].

Bezirgiannidou, Zoe ;

Christoforidou, Anna ;

Kontekaki, Eftychia ;

Anastasiadis, Athanasios G. ;

Papamichos, Spyros I. ;

Menexidou, Helen ;

Margaritis, Dimitrios ;

Martinis, Georges ;

Mantadakis, Elpis .

MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES, 2016, 8

[3]

Cao A, 2010, GENET MED, V12, P61, DOI [10.1097/GIM.0b013e3181cd68ed, 10.1038/gim.2016.173]

[4]

De Sanctis V, 2017, Mediterr J Hematol Infect Dis, V9, DOI DOI 10.4084/MJHID.2017.018

[5]

Elgari MM., 2014, NATL J INTEGR RES ME, V5, P22

[6]

Hafsia Raouf, 2007, Tunis Med, V85, P637

[7] Update in Laboratory Diagnosis of Thalassemia [J].

Munkongdee, Thongperm ;

Chen, Ping ;

Winichagoon, Pranee ;

Fucharoen, Suthat ;

Paiboonsukwong, Kittiphong .

FRONTIERS IN MOLECULAR BIOSCIENCES, 2020, 7

[8]

Papadopoulos V, 2005, HAEMATOLOGICA, V90, P255

[9] The Molecular Basis of β-Thalassemia [J].

Thein, Swee Lay .

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2013, 3 (05)

[10] ADVANCES IN HEMOGLOBINOPATHY DETECTION AND IDENTIFICATION [J].

Troxler, Heinz ;

Kleinert, Peter ;

Schmugge, Markus ;

Speer, Oliver .

ADVANCES IN CLINICAL CHEMISTRY, VOL 57, 2012, 57 :1-28

← 1 2 →