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|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|
|Citation:||Annals of Hematology. Vol.86, No.9 (2007), 659-663|
|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 α2globin gene in trans with the commonest α0thalassemia (-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. © Springer-Verlag 2007.|
|Appears in Collections:||Scopus 2006-2010|
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