Τίτλος:
Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha
1 codon 131, TCT > CCT, Ser > Pro) with an alpha-thalassemia-2 deletion:
implications for diagnosis and management
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Abnormal globin chain biosynthesis may result in deficient quantity
(thalassemia) or structural variation (abnormal hemoglobins) and
traditionally, they represent two phenotypically distinct groups of
disorders. However, the phenotypic expression of unstable hemoglobin
variants often combine features of thalassemia together with variable
peripheral hemolysis. To achieve definitive diagnosis in a child
presenting with hemolytic anemia along with features associated with
thalassemia intermedia, we evaluated clinical, hematological,
biochemical, globin biosynthetic and molecular data. Definitive
diagnosis was achieved by DNA analysis which characterized the proband
to be a compound heterozygote for a common alpha-thalassemia-2 deletion
(3.7kb) and Rb Questembert (alpha131[H14] Ser>Pro) caused by a C>T
mutation in codon 131 of the alpha1 globin gene in trans. The phenotype
of thalassemia intermedia with marked dyserythropoiesis, found in
patients inheriting alpha-thalassemia mutations along with unstable
alpha-globin variants (i.e., alpha-thalassemic hemoglobinopathies),
represents a distinct type of thalassemic syndrome. The proband in this
study additionally had variable peripheral hemolysis, presumably related
to characteristics of the unstable Hb Questembert. There is minimal
experience for the management of such atypical cases and this case
illustrates that it is probably insufficient to monitor clinical status
in patients with such hemoglobinopathies based only on the levels of
hemoglobin. (C) 2003 Elsevier Inc. All rights reserved.
Συγγραφείς:
Stamoulakatou, A
Athanasiou-Metaxa, M
Traeger-Synodinos, J and
Lazaropoulou, C
Harteveld, K
Premetis, E
Tsantali, H and
Zorai, A
Giordano, P
Papassotiriou, I
Kanavakis, E
Περιοδικό:
BLOOD CELLS MOLECULES AND DISEASES
Εκδότης:
ACADEMIC PRESS INC ELSEVIER SCIENCE
Λέξεις-κλειδιά:
alpha-thalassemia; Hb Questembert; hyperunstable hemoglobin
DOI:
10.1016/j.bcmd.2003.10.009
