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

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.

From Lysis to Hemolysis

Introduction: Sickle cell disease (SCD) is the most common genetic disease in the world. Vitamin D deficiency has been described in several patients with this disease. We report the case of a patient in whom osteomalacia revealed the disease. Observation: The patient was 35 years old, not an alcoholic, not exposed to toxic products, with a family history of sickle cell disease in her 4 brothers and sisters. She reports the appearance of diffuse bone pain but which predominates in the axial skeleton, the ribs and the rhizomelic zones having motivated several hospitalizations. These pains are recurrent with new attacks on the lumbar spine, and sacroiliac joints with intense pain. Paraclinical examinations revealed: normal long bone radiographs without bone lysis, a CT scan of the sacroiliac joints without any aspect of sacroiliitis, but revealing multiple vertebral condensing bone lesions in streaks, diffuse at the level of the iliac wings with osteolysis surrounded by non aggressive osteocondensation. Densitometry was normal, vitamin D deficiency was noted at 29 ng/mL with elevated alkaline phosphatase, normal concentrations of Calcemia and Phosphoremia respectively at 96 mg/L and 36 mg/L, contrasting with hyperparathyroidism with a blood level of parathyroid hormone elevated to twice the normal level at 104.4 pg/mL It should be noted that the patient had received per os vitamin D supplementation before coming to us. The diagnosis of osteomalacia secondary to vitamin D deficiency complicated by secondary hyperparathyroidism was retained. Given the family history, we looked for the existence of sickle cell disease which was finally confirmed on hemoglobin electrophoresis with an AS profile. Conclusion: The association between vitamin D deficiency and sickle cell disease is not uncommon, and is explained by the ethnic origin, race, skin color, genetics and physiological features of patients with this disease rather than the disease itself.