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.

Acute Panmyelosis with Myelofibrosis: A Rare Subtype of Acute Myeloid Leukemia

Acute panmyelosis with myelofibrosis (APMF) is a subtype of acute myeloid leukemia (AML) classified among the category of “AML, not otherwise specified” in the WHO 2016 classification of hematopoietic tumors. It is a rare, fatal hematological neoplasm that is characterized by acute onset of cytopenias and bone marrow fibrosis in the absence of splenomegaly or fibrosis related morphological changes in the red blood cells. The difficulty of diagnosis and management explains why APMF is rarely reported in Africa. We report here the case of a 30-year-old man who presented with dizziness, palpitations and dyspnea. Diagnosis of APMF was retained on bone marrow histology and immunohistochemistry which showed bone marrow fibrosis and high cellularity with majority of myeloid blast cells. The patient was treated by low dose cytarabine monotherapy 30 mg/m2 per week. At 3 months of treatment, the patient was transfusion-independent, with normalization of hemoglobin and platelets counts. However, the death occurred after 8 months. This case highlights the diagnosis specificity and management of AMPF, knowing the number of potential differential diagnoses and difficulties of its therapeutic management.

A New Observation of Bone Marrow Involvement by Diffuse Large B-Cell Lymphoma Mimicking Myelofibrosis

Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma, characterized by high clinical and biological heterogeneity. Patients typically present with progressive lymphadenopathy, extranodal disease and may also experience fever, night sweats and unexplained weight loss. We report here the case of a 16-year-old female with osteoarticular pain, dizziness, and dyspnea on exertion. Clinical examination showed no lymphadenopathy. Complete blood count (CBC) revealed pancytopenia and marrow smears found to be hypocellular. Initial diagnosis favored secondary myelofibrosis. Diagnosis of bone marrow involvement by DLBCL was retained on bone marrow histology and immunohistochemistry which showed infiltration of large B lymphoid cells. The patient was treated by immunochemotherapy R-CHOP regimen. This case highlights a very rare and atypical circumstance of discovery of DLBCL with myelofibrosis as an initial symptom. Prognosis value of this presentation and management difficulties are also discussed.