Homozygous Hemoglobinosis CC: A Series of 3 Cases and a Review of the Literature

Abstract

Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical hematology department of Dakar. The 1 st case is a 49-year-old female patient, with notion of 1 st degree consanguinity, and a long history of abdominal pain who presented a poorly tolerated anemic syndrome and splenomegaly. The biological assessment showed moderate anemia (7.6 g/dL) with microcytic hypochromia and a CC profile (HbC = 99.2%; HbA2 = 0.8%) on hemoglobin electrophoresis. The second case was a 22-year-old female patient with a notion of 2 nd degree consanguinity who presented a Chauffard triad. The haemogram showed mild anaemia (11 g/dL), microcytic and hypochromic. Hemoglobin electrophoresis confirmed a CC profile (HbC = 95.3%; HbA2 = 4.7%). The third patient was 27 years old, with a history of diffuse abdominal pain and 2 nd degree consanguinity. The haemogram and haemoglobin electrophoresis confirmed the CC profile (HbC = 94.6%; HbA2 = 5.4%). The negativity of the Emmel test in front of this presentation suggestive of sickle cell disease means that this type of hemoglobinopathy is diagnosed late in our regions. We therefore recommend the systematic performance of hemoglobin electrophoresis in the presence of any chronic hemolytic anemia.