TITLE:
Homozygous Hemoglobinosis CC: A Series of 3 Cases and a Review of the Literature
AUTHORS:
Sokhna Aïssatou Touré, Moussa Seck, Mohamed Keita, Alioune Badara Diallo, Elimane Seydi Bousso, Fatma Dieng, Serigne Mourtalla Gueye, Nata Dieng, Blaise Felix Faye, Saliou Diop
KEYWORDS:
Hemoglobinopathy Homozygous CC, Abdominal Pain, Hemoglobin Electrophoresis, Chauffard Triad
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.13 No.1,
February
13,
2023
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 1st case is a 49-year-old
female patient, with notion of 1st 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 2nd 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 2nd 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.