Hb E/Hb LeporeHollandia in a family from Bangladesh.
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.
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
J S
JS
Waye
B
B
Eng
M
M
Patterson
D H
DH
Chui
L S
LS
Chang
B
B
Cogionis
A O
AO
Poon
N F
NF
Olivieri
D001459:Bangladesh; D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion
D017931:DNA Primers; D006455:Hemoglobins, Abnormal; D005914:Globins; D006446:Hemoglobin E; C037659:hemoglobin Lepore