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Updated: Oct 18, 2025
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Homozygous Hemoglobin Lepore: A Rare Condition Seen in a Bangladeshi Family
1Md Abdul Aziz, Scientific Officer, Department of Biochemistry and Molecular Biology, Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh;
Hb Lepore is one type of hemoglobin disorder in which there is structurally abnormal hemoglobin (Hb) that results from in-frame fusion between the 5 end of the δ-globin gene and the 3 end of the β-globin gene, due to misalignment of homologous chromosomes during meiosis..Hb Lepore homozygous patients have clinical features indistinguishable from thalassemia major or intermedia. On 22 March 2018 a severely anaemic 2 year old child was referred to Dhaka Shishu Hospital Thalassaemia Center in Dhaka Shishu Hospital, Dhaka Bangladesh for thalassemia screening. HPLC report showed a very high level of Hb F 80.7% and Hb A₂ level 16.16%. HPLC of both mother and father revealed a high A₂ level and a hump in the download slope of Hb A₂ peak and diagnosed as Hb Lepore. This was confirmed by GAP PCR and DNA analysis of the child and the parents and the child was diagnosed as suffering from homozygous Hb Lepore. Here we discuss Hb Lepore a rare homozygosity in a child seen in a Bangladeshi family.
Hb Lepore is one type of hemoglobin disorder in which there is structurally abnormal hemoglobin (Hb) that results from in-frame fusion between the 5 end of the δ-globin gene and the 3 end of the β-globin gene, due to misalignment of homologous chromosomes during meiosis..Hb Lepore homozygous patients have clinical features indistinguishable from thalassemia major or intermedia. On 22 March 2018 a severely anaemic 2 year old child was referred to Dhaka Shishu Hospital Thalassaemia Center in Dhaka Shishu Hospital, Dhaka Bangladesh for thalassemia screening. HPLC report showed a very high level of Hb F 80.7% and Hb A₂ level 16.16%. HPLC of both mother and father revealed a high A₂ level and a hump in the download slope of Hb A₂ peak and diagnosed as Hb Lepore. This was confirmed by GAP PCR and DNA analysis of the child and the parents and the child was diagnosed as suffering from homozygous Hb Lepore. Here we discuss Hb Lepore a rare homozygosity in a child seen in a Bangladeshi family.
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