Hb E/Hb LeporeHollandia in a family from Bangladesh

Am J Hematol. 1994 Dec;47(4):262-5. doi: 10.1002/ajh.2830470403.

Abstract

We describe a family from Bangladesh in which three children are compound heterozygotes for Hb E (alpha 2 beta 2, beta 26Glu Lys) and Hb Lepore (delta-beta fusion gene). PCR amplification and direct nucleotide sequencing established that the fusion gene is Hb LeporeHollandia, with the cross-over localized to a 40 bp window between codon 22 and IVS-1 nt 16 of the delta- and beta-globin genes. This unusual combination of mutations is associated with a relatively mild clinical phenotype, with all three affected siblings having microcytic anemia of moderate severity without the need for transfusions.

Publication types

  • Case Reports

MeSH terms

  • Bangladesh
  • Base Sequence
  • DNA Primers / chemistry
  • Female
  • Genes
  • Globins / genetics
  • Hemoglobin E / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Sequence Deletion

Substances

  • DNA Primers
  • Hemoglobins, Abnormal
  • Globins
  • Hemoglobin E
  • hemoglobin Lepore

Associated data

  • GENBANK/S76156