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Annals of Hematology
Published in: Annals of Hematology 9/2007

01-09-2007 | Original Article

Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method

Authors: Thanyachai Sura, Objoon Trachoo, Vip Viprakasit, Prin Vathesatogkit, Atchara Tunteeratum, Manisa Busabaratana, Raewadee Wisedpanichkij, Parttraporn Isarangkura

Published in: Annals of Hematology | Issue 9/2007

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Abstract

We report on a Thai female patient who presented with hypochromic microcytic anemia, hepatosplenomegaly, and failure to thrive since 3 years of age. Hematological and hemoglobin (Hb) analysis were consistent with a clinical diagnosis of Hb H disease. However, no abnormal Hb fraction had ever been detected. During the 20 years of follow-up, this patient experienced several episodes of hemolytic crisis, which worsened her anemia, necessitating blood transfusion. Recently, we identified Hb Quong Sze (Hb QS), a highly unstable globin gene mutation affecting codon 125 (CTG→CCG) of α2 globin gene in trans with the commonest α0 thalassemia (–SEA) in the patient. This report highlights the clinical significance of Hb QS in Southeast Asians, as previously almost all of the patients described with this variant were of Chinese origin.
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Metadata
Title
Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method
Authors
Thanyachai Sura
Objoon Trachoo
Vip Viprakasit
Prin Vathesatogkit
Atchara Tunteeratum
Manisa Busabaratana
Raewadee Wisedpanichkij
Parttraporn Isarangkura
Publication date
01-09-2007
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 9/2007
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-007-0303-9

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