Publication:
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

30

Issued Date

2007-09-01

Resource Type

Article

ISSN

09395555

DOI

10.1007/s00277-007-0303-9

Other identifier(s)

2-s2.0-34547559606

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Annals of Hematology. Vol.86, No.9 (2007), 659-663

Suggested Citation

Thanyachai Sura, Objoon Trachoo, Vip Viprakasit, Prin Vathesatogkit, Atchara Tunteeratum, Manisa Busabaratana, Raewadee Wisedpanichkij, Parttraporn Isarangkura 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. Annals of Hematology. Vol.86, No.9 (2007), 659-663. doi:10.1007/s00277-007-0303-9 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/24775

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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

Author(s)

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

Other Contributor(s)

Mahidol University

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.

Keyword(s)

Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/123456789/24775

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