The diagnostic dilemma of congenital unstable hemoglobinopathies.

Abstract:

:Unstable hemoglobin variants represent a rare etiology of congenital hemolytic anemia. Without a high index of suspicion, plus proper laboratory testing and interpretation, the correct diagnosis can be elusive. We report on five children who were initially thought to have other congenital disorders such as hereditary spherocytosis or thalassemia, before β-globin gene sequencing led to the definitive diagnosis. Recognizing the variable clinical presentation and laboratory data reported will aid clinicians in diagnosis of unstable hemoglobins variants in children with atypical forms of hemolytic anemia, particularly those with low pulse oximetry values or whose hemoglobin electrophoresis suggest β-thalassemia trait.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Yates AM,Mortier NA,Hyde KS,Hankins JS,Ware RE

doi

10.1002/pbc.22702

subject

Has Abstract

pub_date

2010-12-15 00:00:00

pages

1393-5

issue

7

eissn

1545-5009

issn

1545-5017

journal_volume

55

pub_type

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