Aimé Kazadi Lukusa

Background: Sickle cell anaemia (SCA) is the most common genetic diseases in the Democratic Republic of Congo (DRC). It is estimated 30,000 to 40,000 neonates with SCA are born annually. Despite this high incidence rate, and the severity of the Bantu haplotype found in Congolese patients, major clinical characteristics remain poorly defined. The objective of this study was to assess the clinical and haematological profile of the SCA in patients less than 24 years of age. Methods: A cross-sectional study was conducted in Kinshasa, the large city of the DRC. Patients were consecutively selected in three health institutions. Results: The study includes 256 sickle cell patients. The mean age of 8.4 (SD = 4.9) years. The Hand-foot syndrome was most common (52.7%) first presentation revealing the disease in our series. The most prevalent crises found in our series were vaso-occlusive crises (VOC) in 170 cases (66.4%) and severe hemolysis in 136 cases (53.1%). Splenic sequestration was noted in 19 cases (7.4%). The age at the first pain crisis was 18.2±15.2 months-of-age and the age at the first transfusions was 29.2±27.6 months-of -age. The most common signs associated with sickle cell disease in our series were hepatomegaly (53.9%), splenomegaly (41.7%), and adenotonsillar hypertrophy (34.8%). Epistaxis was reported in 9.4%. Conclusion: The clinical course of patients in DRC was comparable to reports from Western countries, with the notable exception of epistaxis which was significantly higher in patients in the DRC.

Background.To determine clinical profile and management of retinoblastoma among children at Kinshasa in Democratic Republic of Congo.Patients and methods. The medical records of patients with a diagnosis of retinoblastoma seen at the University Hospital of Kinshasa from January 1985 till December 2005 were retrospectively reviewed. Demographic profile, clinical data, modes of treatment and outcome were analysed.Results. A total of 49 children, of whom 40 had adequate data on record were identified as retinoblastoma (28 males and 12 females). Nine cases had bilateral disease. The median age at the first symptoms was 9 months (range, 1 month to 6 years) for unilateral retinoblastoma and 18 months (range, 1 month to 3.5 years) for bilateral retinoblastoma. The median age at the first oncology consultation was 2.4 years (range, 6 months to 6 years) for unilateral retinoblastoma and 2.4years (range, 9 months to 4 years) for bilateral disease. Leukokoria was present in 67.5% of subjects. Seventy-five percent abandoned the treatment. The mortality was 92.5%.Conclusion. In Democratic Republic of Congo, retinoblastoma remains a life threatening disease characterized by late referral to a specialized unit and affordability of chemotherapy; all leading to an extension of the disease and high mortality.

Ten male subjects affected by sickle cell anemia (SCA) were studied to evaluate the long-term effects of therapies on their fertility. Their ages ranged from 18 to 34 years (median: 32 years). Four subjects were treated by hydroxyurea (HU) and 6 by hematopoietic stem cell transplantation (HSCT). The median follow-up after HU initiation and HSCT was 10.5 years (range: 8–15 years) and 15.5 years (range: 8–21 years), respectively. Three of the 6 in the HSCT group and two of the 4 in the HU group were azoospermic. One HSCT subject had normal semen and hormone variables, showing that normal fertility can occasionally be expected after transplantation in SCA. The remaining 4 patients (2 HSCT and 2 HU) were oligozoospermic. With regard to HU, semen impairment appears to be related to the duration of treatment. To draw general conclusions, further research with a large number of patients treated since childhood with HU or HSCT is warranted.