Pregnancy outcome in homozygous sickle cell disease: observations from the Jamaican Birth Cohort.

OBJECTIVE: To document pregnancy outcome in homozygous sickle cell (SS) disease and in age-matched controls with a normal haemoglobin genotype followed from birth for up to 45 years. METHODS: A total of 100 000 consecutive non-operative deliveries screened for sickle cell disease at the main Government maternity hospital in Kingston, Jamaica between 1973 and 1981 detected 311 (149 female) babies with SS disease who were matched by age and gender with 250 (129 female) controls with an AA haemoglobin phenotype. These individuals have been followed from birth with prospective assessment of menarche and detailed documentation of all pregnancies. RESULTS: There were 177 pregnancies in 71 SS patients and 226 pregnancies in 74 AA controls. Mothers with SS disease had more spontaneous abortions (adjusted relative risk [aRR] 3.2, 95% CI 1.6-6.1), fewer live births (aRR 0.7, 95% CI 0.6-0.9) and their offspring were more likely to have a gestational age <37 weeks (aRR 2.1, 95% CI 1.1-3.7) and low birthweight <2.5 kg (aRR 3.0, 95% CI 1.6-5.3). They were more prone to acute chest syndrome (aRR 13.7, 95% CI 4.1-45.5), urinary tract infection (aRR 12.8, 95% CI 1.3-125.9), pre-eclampsia/eclampsia (aRR 3.1, 95% CI 1.1-8.8), retained placenta (aRR 10.1, 95% CI 1.1-90.3), sepsis (Fisher's Exact test 0.04) and pregnancy-related deaths (Fisher's Exact test 0.02). Four of five deaths were attributable to acute chest syndrome. There was no genotypic difference in pregnancy-induced hypertension or postpartum haemorrhage. CONCLUSION: Pregnancy in SS disease carries risks for both mother and child. The variable characteristics of pregnancy-related deaths complicate their prevention. TWEETABLE ABSTRACT: Pregnancy in SS disease compared with controls showed increased abortions and stillbirths, fewer live births and maternal deaths in 7% patients.

Homozygous sickle cell disease related mortality in Senegal (2011-2020).

Homozygous sickle cell disease (HSCD) is characterized by multiorgan morbidity and an increased risk of early death. We aim to describe the mortality rate, causes, and risk factors of death in HSCD between 2011 and 2020. We conducted a retrospective study with a duration of 10 years in the cohort of 2348 HSCD patients. The mortality rate was determined by reporting the number of deaths to the total number of patients followed in the year. Sociodemographic, clinical, biological data and causes of death were studied. Death risk factors were determined by a bivariate analysis comparing deceased and living HSCD patients. The mean age of death was 26 years (3-52). The sex ratio was 1.2. The mortality rate was 2.76%. The death rate was high in 2011 (3.2%) and low in 2020 (0.17%). We observed a significant reduction of mortality of 94.6%. Most of the common causes of death were acute anemia (40%), acute chest syndrome (24.6%), and infections (20%). Risk factors of death were age, vaso-occlusive crises ≥3, acute chest syndrome, blood transfusion, and chronic complications. Mortality among HSCD has significantly decreased over the past 10 years in Senegal, and the main causes of death were acute anemia, acute chest syndrome, and infections.

[Occult hepatitis B reactivation in a patient with homozygous sickle cell disease: clinical case and literature review]. / Réactivation d'une hépatite B occulte chez un patient drépanocytaire homozygote: cas clinique et revue de la litérature.

Occult Hepatitis B corresponds to the presence of hepatitis B virus-deoxyribonucleic acid (HBV-DNA) in serum and/or in liver of a patient despite HBsAg negativity. Clinically, it is usually asymptomatic. Its reactivation is rare and commonly occurs in immunosuppressed individuals. We report the case of a 21-year old patient from Senegal, with homozygous sickle cell disease, presenting with cholestatic jaundice. Laboratory tests showed reactivation of occult Hepatitis B. This study emphasizes the need to systematically investigate the presence of occult Hepatitis B in patients with sickle cell disease suffering from acute liver disease.

Gangrene of the digits of the right lower limb in a patient with homozygous sickle cell disease and ulcerative colitis.

Thrombosis may play an important role in the pathophysiology of certain complications of sickle cell disease (SCD). While the association between SCD and ulcerative colitis (UC) is still debatable, inflammatory bowel disease is known to be associated with an increased incidence of thromboembolic disease. We report a case of a 16-year old girl known to have homozygous SCD and also diagnosed with UC who presented with digital ischemia of her right lower limb. This led to gangrene and subsequent amputation of the first, second and third digits of that limb. This case highlights that patients with both UC and SCD may have an increased risk of thromboembolism and raises the question as to whether patients with UC and SCD should be screened for thrombophilia.

Steady state hemoglobin concentration and packed cell volume in homozygous sickle cell disease patients in Lagos, Nigeria.

BACKGROUND: Sickle cell disease is a genetic disorder of hemoglobin causing myriad of pathology including anemia. The purpose of this study was to evaluate the baseline values of steady state hemoglobin and packed cell volume as a guide to managing the early recognition of hemolytic crises in sickle cell anemia. METHODS: A cross-sectional study was conducted among the sickle cell patients attending the Sickle Cell clinic of Lagos State University Teaching Hospital, Ikeja. A blood sample of 4.5 ml blood was collected from each participant for hemoglobin concentration and packed cell volume. All blood samples were also screened for HIV and hemoglobin phenotypes were done using cellulose acetate hemoglobin electrophoresis at pH 8.6. RESULTS: A total of 98 subjects in steady state were recruited, consisting of 53 (54.1%) females and 45 (45.9%) males. The overall means were 7.92±1.49 and 24.46±4.76; a female mean of 7.73±1.45; 23.89±4.60, and a male mean of 8.14±1.54 and 25.14±4.91 were obtained for hemoglobin and packed cell volume, respectively. Sixty - nine of the 98 (70.40%) subjects have been previously transfused with blood. CONCLUSION: The mean hemoglobin concentration and packed cell volume in males was higher than females. The overall mean was lower than what was expected for age and sex. Over two-third of sickle cell anemia population had been transfused.