L’hémoglobinose C homozygote : à propos d’un cas de découverte fortuite

Abstract

Summary Hemoglobin C (HbC) is variant hemoglobin with a mutation in the betaglobin gene causing substitution of glutamic acid for lysine at position 6 of the globin chain. We are presenting in our observation a case of homozygous HbC in a young military of 27 years old, single, of Algerian origin. The biological examinations during a systematic checkup shows a mild hemolytic anemia (reticulocytes increased and collapsed haptoglobin), the morphological examination of the peripheral blood shows an aniso-poikilocytose, abundant target cells and occasionally an erythroblastosis. This patient has neither surgical nor medical history. The clinical examination reveals a moderate and non-painful isolated splenomegaly, inorganic cardiac murmur without other clinical signs associated. The presence of a hemoglobinopathy has been suggested by using an alkaline pH buffer electrophoresis system and confirmed by a high performance liquid chromatography (HPLC), which quantifies the various fractions of the hemoglobin (HbC: 92,6%, HbF: 1,6% and the HbA2: 3,7% of our patient) and allows to identify the homozygous or heterozygous character of the genetic abnormality. The investigated patient is homozygous CC. Electrophoresis hemoglobin at pH alkaline confuses the HbC with the HbE, HbA2, HbO-arab… This one is well-differentiated by the capillary electrophoresis and the HPLC. The screening of these asymptomatic hemoglobinopathy allows to detect the couples at risk and to propose a genetic counseling.