Molecular characterization of (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E in Thai patients

Eur J Haematol. 2001 Oct;67(4):258-62. doi: 10.1034/j.1600-0609.2001.00524.x.

Abstract

Two cases of the Thai thalassemia patients with compound heterozygosities for (deltabeta)(0)/beta(0)-thalassemia and (deltabeta)(0)-thalassemia/hemoglobin E have been reported. The first case was a 8-yr-old boy who had the following hematologic data: Hb 6.5 g/dL, Hct 20.5%, MCV 70.4 fL, MCH 22.3 pg and MCHC 31.7 g/dL. Hemoglobin analysis revealed 1.9% hemoglobin A2 and 91.7% hemoglobin F. The second case, with Hb 13.9 g/dL, Hct 41.5%, MCV 69.5 fL, MCH 22.5 pg and MCHC 32.2 g/dL, was a 16-yr-old male who had 46.1% hemoglobin E and 49.8% hemoglobin F. Globin gene analyses showed that both probands carried the same deletional type (deltabeta)(0)-thalassemia trans to the 4 bp deletions in codons 41/42 beta(0)-thalassemia and to the betaE-globin gene, respectively. Polymerase chain reaction and DNA sequence analyses demonstrated that the 5' breakpoint of the (deltabeta)(0)-thalassemia deletion was located in the second intron of the delta-globin gene and that the 3' breakpoint lay within a cluster of LI repetitive sequences at 4.7 kb 3' to the beta-globin gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis
  • Diagnostic Errors
  • Female
  • Globins / genetics*
  • Hemoglobin E / genetics*
  • Heterozygote
  • Humans
  • Introns / genetics
  • Male
  • Polymerase Chain Reaction
  • Pregnancy
  • Repetitive Sequences, Nucleic Acid
  • Sequence Analysis, DNA
  • Sequence Deletion*
  • Thalassemia / blood
  • Thalassemia / diagnosis
  • Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin E