Introduction. Sickle cell disease (SCD) is one of the most common genetic diseases in the world. It combines, in its homozygous form, chronic hemolytic anemia, vasoocclusive complications, and susceptibility to infections. It is well known that the combination of pregnancy and sickle cell disease promotes the occurrence of complications that are sometimes fatal for the mother and/or the fetus. Objective. The objective of the current study was to compare pregnancy outcomes among women with SCD with those of women without the diagnosis of SCD. Materials and methods. It was a case-control study carried out in four maternity hospitals in Brazzaville in 2 years (July 2017–June 2019). It concerned 65 parturients with SS homozygous SCD. The mode of childbirth and maternal and perinatal morbidity and mortality were compared with those of 130 non-sickle cell pregnant women. Results. The average age was 27 years for SCD women and 31 years for non-SCD women. The average gestational age at delivery was 35 weeks for SCD women and 38 weeks for non-SCD women. From the logistic regression analysis using the comparison group as the reference group, there was excessive risk in SCD compared to non-SCD of infection (29.3% vs. 4.6%, OR = 21.7, 95% CI [7.6–62.7]; p=0.001), cesarean (63% vs. 35.4%, OR = 3.1, 95% CI [1.6–5.7]; p=0.001), prematurity (75.4% vs. 30.8%, OR = 8, 95% CI [3.0–23.2]; p=0.001), low birth weight (52.3% vs. 16.1%, OR = 4.7, 95% CI [2.4–9.4]; p=0.001), neonatal requiring admission to the intensive care unit (40.3% vs. 17.5%, OR = 3.2, 95% CI [1.6–6.3]; p=0.01), and neonatal death (21.5% vs. 4.8%, OR = 4.3, 95% CI [1.5–12.2]; p=0.01). Conclusion. The risk of pregnancy in patients with homozygous sickle cell anemia remains high, on both the maternal and fetal sides.

Introduction. Sickle cell disease is an autosomal recessive inherited disorder due to the mutation of a gene coding for the globin beta chain. The aim of this study is to update the epidemiological data on hemoglobinoses, in particular sickle cell disease in newborns in Congo. Materials and Methods. This was a descriptive cross-sectional study, conducted from October 1, 2019, to March 31, 2020, throughout the Congolese national territory. It involved all full-term newborns, without distinction of nationality, aged 5 days or less, and whose parents consented to participate in the study. The blood samples, taken at the heel and collected on Whatman blotting paper, were analyzed using the HPLC Variant NBS machine. Results. In 2897 newborns (NN) screened, hemoglobin abnormalities were found in 603 NN (20.81%). The mean age of these newborns was 1 day (extremes 0 and 5 days). The male-to-female ratio was 1.03. Abnormal hemoglobins were mainly Hb S (n = 597 (97.71%)); Hb C (n = 5 (0.82%)); and variants (n = 7 (1.15%)). The national prevalence of major sickle cell (MSC) syndromes and sickle cell trait was 1.35% and 19.43%, respectively. The prevalence ranged from 1.77% to 2.56% for MSS in four departments and from 20.5% to 25.8% for the sickle cell trait in six other departments. Conclusion. Data on homozygous sickle cell disease remain consistent with previous studies. However, further studies should clarify the molecular anomalies of the variants observed in our samples.

AbstractIntroductionHaemophilia is a rare hereditary haemorrhagic disease caused by coagulation factor VIII (haemophilia A) or IX (haemophilia B) deficiency. Very few data exist on this disease in Congo. This survey aims to describe the epidemiological and clinical aspects of the children affected.Materials and methodsA descriptive cross-sectional study was carried out in the haematology department of the Brazzaville University Hospital over a period of two years. Children (under 18 years of age) with haemophilia and with a factor VIII or IX level less than or equal to 30% were identified. The parameters analysed included age, diagnostic delay, type and severity of haemophilia, type and frequency of bleeding manifestations, complications and history of transfusion.ResultsNineteen patients were identified with an average age at diagnosis of four years. The average time to diagnosis was six years, and the most frequent first known bleeding episode was haemorrhage during circumcision. Family history was found in 14 cases. There were 13 cases of haemophilia A and six cases of haemophilia B. Fourteen cases were severe haemophilia; no mild cases were identified. Haemorrhagic manifestations included haemarthrosis, haematomas and mucocutaneous haemorrhages. The average number of haemorrhagic episodes per year was 12. Haemophilic arthropathy was present at diagnosis in seven cases, with the main location being the knee. The average number of hospitalisations before diagnosis was two. Sixteen patients had been transfused at least once.ConclusionAlthough circumcision is the most frequent first known haemorrhagic manifestation of haemophilia in Congo, patients are often diagnosed late, sometimes with severe osteoarticular complications. Further measures are needed to help ensure early diagnosis and improve care.