Skip to main content
padlock icon - secure page this page is secure

Atypical hemoglobin H disease in a Thai patient resulting from a combination of α-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity

Buy Article:

$47.00 + tax (Refund Policy)

Abstract: A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a β-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnormal band movement towards more anodic to the hemoglobin A was 35.7%. DNA analysis of the α-globin gene cluster by polymerase chain reaction (PCR) revealed a combination of defects caused by the SEA-type α-thalassemia 1 and the α-Constant Spring gene. Analysis of β-globin gene by PCR and DNA sequencing also detected the heterozygosity for the GGC–GAC mutation at codon 56, leading to a substitution of aspartic acid for glycine resulting in the hemoglobin J Bangkok. The hematologic data of this unusual case of hemoglobin H disease are presented and compared with two compound heterozygotes for hemoglobin J Bangkok and α-thalassemia 1 found in the patient's father and grandfather. A simple DNA assay based on an allele-specific PCR for rapid diagnosis of the hemoglobin J Bangkok is also described.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: Hb Constant Spring; Hb H disease; Hb J Bangkok; allele-specific PCR

Document Type: Research Article

Affiliations: 1: Clinical Chemistry and 2: Clinical Laboratory Department, Chao Praya Yomraj Hospital, Suphanburi, Thailand 3: Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand, and

Publication date: 01 May 2001

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more