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Hb E/Hb Lepore Hollandia in a family from Bangladesh
Author(s) -
Waye John S.,
Eng Barry,
Patterson Margaret,
Chui David H. K.,
Chang Lebe S.,
Cogionis Bessie,
Poon Annette O.,
Olivieri Nancy F.
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830470403
Subject(s) - genetics , medicine , biology
We describe a family from Bangladesh in which three children are compound heterozy‐gotes for Hb E (α 2 β 2 , β26 Glu Lys ) and Hb Lepore (δ‐β fusion gene). PCR amplification and direct nucleotide sequencing established that the fusion gene is Hb Lepore Hollandia , with the cross‐over localized to a 40 bp window between codon 22 and IVS‐1 nt 16 of the δ‐ and β‐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. © 1994 Wiley‐Liss, Inc.