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.

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 alpha(2) globin gene in trans with the commonest alpha(0) 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.

• Authors: Thanyachai Sura, Objoon Trachoo, Vip Viprakasit, Prin Vathesatogkit, Atchara Tunteeratum, Manisa Busabaratana, Raewadee Wisedpanichkij, Parttraporn Isarangkura
• Journal: Annals of hematology (Ann Hematol) Vol. 86 Issue 9 Pg. 659-63 (Sep 2007) ISSN: 0939-5555 [Print] Germany
• PMID: 17503046 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins
• Hemoglobins, Abnormal
• hemoglobin Quong Sze

Topics

• Adult
• Child, Preschool
• Female
• Hemoglobins (analysis)
• Hemoglobins, Abnormal (genetics)
• Humans
• Longitudinal Studies
• Point Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• Sequence Deletion
• Thailand
• alpha-Thalassemia (diagnosis, genetics)