Hb E/Hb Lepore Hollandia in a family from Bangladesh

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.