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.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Eng
B
B
Patterson
M
M
Chui
D H
DH
Chang
L S
LS
Cogionis
B
B
Poon
A O
AO
Olivieri
N F
NF
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