Heterozygous Haemoglobin C/Beta Thalassemia: About a Fortuitous Discovery Case

Haemoglobin C is a genetic disorder caused by the synthesis of abnormal haemoglobin (Hbc) that replaces haemoglobin A. We report in our observation a case of a 50-years-old woman with heterozygous haemoglobin C/ beta thalassemia, married and mother of 3 children, from Morocco. During a family assessment, the biological examinations show a discreet regenerative and haemolytic microcytic anaemia (increased reticulocytes and collapsed haptoglobin); the morphological examination of the peripheral blood shows abundant target cells and erythroblastosis. No abnormalities of haemostasis are observed, and no iron deficiency is really noticed. Without surgical or medical history, patient physical examination was purely normal. The hemoglobinopathy was confirmed by capillary electrophoresis that quantifies all different fractions of haemoglobin (HbC: 66.9%, HbF: 1% and HbA2: 4.3% for our patient) and identifies the homozygous or heterozygous character of the genetic anomaly, these results are already verified by high performance liquid chromatography (HPLC). The explored patient is heterozygous C/thalassemia. Early detection of these asymptomatic hemoglobinopathies makes high-risk couple's identification and genetic counselling possible and effective.