Observation of a Rare Hemoglobin Variant [Hb Lulu Island, β107(G9)Gly→Asp, GGC→GAC] Co-Inherited With a β⁺-Thalassemia Mutation [IVS-I-110 (G→A)] or in the Heterozygous State in a Greek-Albanian Family

Abstract

We report clinical, hematological, biochemical, functional and molecular studies carried out on two first cousins from a Greek-Albanian family who have clinical and hematological findings consistent with the diagnosis of thalassemia intermedia. DNA studies determined that they had co‐inherited a common Mediterranean β-thalassemia (thal) mutation, IVS-I-110 (G→A), in trans to a β-globin gene mutation at codon 107 (GGC→GAC), predicted to give rise to a rare unstable β chain variant Hb Lulu Island or β107(G9)Gly→Asp.

Keywords:

• Unstable hemoglobins (Hbs)
• Thalassemia (thal)
• Erythropoiesis