Molecular characterization of a discrete hemoglobinopathy upon investigation for a lung hydatic cyst in an old Tunisian patient

Abstract

We report the case of an old Tunisian patient hospitalized for a complicated hydatic cyst of the right lung. Primary laboratory investigation showed a microcytic hypochromic anemia with an abnormal hemoglobin pattern. Hemoglobin analysis and DNA sequencing of the ␤-globin gene revealed a compound heterozygote, HbO-Arab/cd 39 ␤ •-thalassemia. This hemoglobinopathy was never diagnosed earlier. It spent undiagnosed until the patient presented with hydatic cyst. Coexistence of the two pathologies complicated the general state of the patient and led to a severe anemia. The patient has undergone a surgical therapy for the hydatic cyst and was advised to start a follow up for her hemoglobinopathy.

Rare hemoglobin variants in Tunisian population

“…The δ‐globin variants are not associated with a severe phenotype, but they interfere with the diagnosis of beta‐thalassemia especially in simple carriers. In fact, the presence of such variants leads to the decrease of Hb A 2 levels contrasting with decreased hematological indices, which creates an ambiguity in the diagnosis of an associated beta‐thalassemia . This problem is more important especially when the δ‐globin variant is unstable and at the consequence not detected by phenotyping techniques.…”