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Background: Alloimmunisation and haemolytic transfusion reactions (HTRs) can occur in patients with sickle cell disease (SCD) despite providing phenotype-matched red blood cell (RBC) transfusions. Variant RBC antigen gene alleles/polymorphisms can lead to discrepancies in serological phenotyping. We evaluated differences between RBC antigen genotyping and phenotyping methods and retrospectively assessed if partial antigen expression may lead to increased risk of alloimmunisation and HTRs in SCD patients at a tertiary centre in Canada., Methods: RBC antigen phenotyping and genotyping were performed by a reference laboratory on consenting SCD patients. Patient demographic, clinical and transfusion-related data were obtained from a local transfusion registry and chart review after research ethics board approval., Results: A total of 106 SCD patients were enrolled, and 91% (n = 96) showed additional clinically relevant genotyping information when compared to serological phenotyping alone. FY*02N.01 (FY*B GATA-1) (n = 95; 90%) and RH variant alleles (n = 52, 49%; majority accompanied by FY*02N.01) were common, the latter with putative partial antigen expression in 25 patients. Variability in genotype-phenotype antigen prediction occurred mostly in the Rh system, notably with the e antigen (kappa: 0.17). Fifteen (14.2%) patients had a history of alloimmunisation, with five having HTR documented; no differences in clinical outcomes were found in patients with partial antigen expression. Genotype/extended-phenotype matching strategies may have prevented alloimmunisation events., Conclusion: We show a high frequency of variant alleles/polymorphisms in the SCD population, where genotyping may complement serological phenotyping. Genotyping SCD patients before transfusion may prevent alloimmunisation and HTRs, and knowledge of the FY*02N.01 variant allele increases feasibility of finding compatible blood., (© 2020 British Blood Transfusion Society.)

Acute neurological changes in sickle cell disease (SCD) patients often raise the suspicion for stroke. Posterior reversible encephalopathy syndrome (PRES) can mimic stroke in its clinical presentation. We aimed to (i) review the PRES literature in SCD patients including clinical presentation, risk factors, pathophysiology, and management and (ii) elucidate the distinction between PRES and stroke in SCD. The exact pathophysiology of PRES in SCD remains elusive but is likely multifactorial and related to sickling, ischemia, and chronic anemia predisposing to vasogenic edema. PRES and stroke in SCD are distinguishable conditions. Our review may help elucidate a clinical approach to this distinction., (© 2016 Wiley Periodicals, Inc.)

Objective: To evaluate the effects of Tonsillectomy and Adenoidectomy (T&A) on Obstructive Sleep Apnea (OSA) secondary to Upper Airway Obstruction (UAO) in children with Sickle Cell Disease (SCD)., Methods: Twenty eight children with SCD and history of snoring, with or without adeno tonsillar hypertrophy, were evaluated for UAO and OSA., Results: Eight children were confirmed to have OSA by multichannel polysomnography and underwent T&A. Follow up examination showed symptomatic clinical and objective improvement in sleep study parameters in OSA., Conclusions: T&A appears to be a safe, effective option to treat selected patients with OSA due to UAO in SCD children.

The hospital records of 62 Zambian children with sickle cell anaemia (SCA) who died during a 3 year period (January 1987 to December 1989) at the Paediatric Wing of the University Teaching Hospital, Lusaka, Zambia, were reviewed retrospectively. The SCA patients accounted for 2.92 percent of the total admissions and the average case fatality was 6.61 percent of the total SCA admissions. The case fatality rate has reduced considerably as compared to the one observed in 1970 in Zambia, although the major causes of death remain the same. The maximum mortality was noted in the age group of one to five years (54.84%). The common causes of death were infections (29.54%), vasoocclusive crises (22.72%) and splenic sequestration crises (20.45%). The problems of sub-Saharan Africa, like malaria, malnutrition and now the HIV infection also adde to the mortality (15.90%).