scholarly journals A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease

2014 ◽  
Vol 41 (6) ◽  
pp. 3-3 ◽  
Author(s):  
Neil A. Hanchard ◽  
Joann M. Moulds ◽  
John W. Belmont ◽  
Alice Chen
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Red Blood Cell Transfusion ◽  
Susceptibility Loci ◽  
Cell Disease ◽  
Genome Wide ◽  
A Genome

Sickle crisis in the critically ill

2016 ◽  
Author(s):  
Shilpa Jain ◽  
Mark T. Gladwin
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Systemic Infection ◽  
Red Blood Cell Transfusion ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Ischaemia Reperfusion Injury ◽  
Transfusion Therapy

Sickle cell disease crises are precipitated by an acute occlusion of microvessels, which can lead to end organ ischaemia reperfusion injury and acute haemolysis. Acute fat emboli syndrome, acute lung injury (the acute chest syndrome), acute pulmonary hypertension, and cor pulmonale, haemorrhagic and occlusive stroke, and systemic infection represent the most common life-threatening complications observed in current ICU practice. General principles of management in all patients admitted to the critical care unit are hydration, antibiotics, pain control, and maintenance of oxygenation and ventilation. Red blood cell transfusion therapy is the treatment of choice for most complications of sickle cell disease requiring intensive care management. Transfusion of sickle negative, leukoreduced red blood cells, phenotypically matched for Rhesus and Kell antigens is the minimum standard of care in sickle cell disease patients as they have a high incidence of red blood cell alloimmunization.

scholarly journals Orbital Compression Syndrome in a Child with Sickle Cell Anaemia: A Case Report And Review of Literature

2018 ◽  
Vol 38 (3) ◽  
pp. 200-202
Author(s):  
Prateek Kumar Panda
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Surgical Intervention ◽  
Lower Eyelid ◽  
Red Blood Cell Transfusion ◽  
Uneventful Recovery ◽  
Cell Disease ◽  
Compression Syndrome

Vaso-occlusive crises in sickle cell disease commonly involve bone marrow of the long bones and vertebrae. Involvement of bones with less marrow space, including the bones of the orbit, is reported rarely in the literature. The present case is a six year old boy, a known case of sickle cell disease, who presented with acute onset right upper and lower eyelid swelling, restriction of extraocular movement and pain. USG orbit showed a retro-orbital haemorrhage compressing on the orbit, probably due to orbital bone infarction. The child was managed successfully with red blood cell transfusion and intravenous antibiotics, without steroids and surgical intervention. This report highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease presenting with pain, orbital swelling and restriction of ocular movement. Timely red blood cell transfusion only may be sufficient for uneventful recovery, without steroids or surgical intervention. Expedient diagnosis of orbital compression syndrome in children with sickle cell disease is crucial because this is a potentially sight-threatening entity. 

scholarly journals Effects of Combination Hydroxyurea and Chronic Red Blood Cell Transfusion Therapy on the Immune Parameters of Patients with Sickle Cell Disease

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4840-4840
Author(s):  
Mahogany Oldham ◽  
Gelina Sani ◽  
Stefanie Margulies ◽  
Jennifer Webb ◽  
Robert Sheppard Nickel ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Combination Therapy ◽  
Blood Cell ◽  
Nk Cells ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Nk Cell ◽  
Red Blood Cell Transfusion ◽  
Cell Disease ◽  
Transfusion Therapy

Background: Sickle cell disease (SCD) is typically characterized as a red blood cell disorder but our understanding of the effects on the immune system is limited. Patients with sickle cell disease have been shown to have unique inflammatory profiles, immune phenotypes and function. Others have shown that during vaso-occlusive crises patients with SCD have elevated counts of neutrophils, monocytes, and cytokines as well as increased activity of invariant natural killer T cells (iNKT).We have previously shown that hydroxyurea use is associated with a normalization of the increased NK cell number and function. While there are studies that describe on the effects of single therapy, there is little known about combination therapy. Therefore, our study investigated immunological changes in pediatric patients on combination therapy, which was defined as hydroxyurea added to chronic red blood cell transfusion treatment. Methods: Patient data and peripheral blood samples were collected from an ongoing pilot study of combination therapy hydroxyurea and simple chronic transfusion in patients with SCD previously on chronic transfusion for stroke prevention. A total of 11 patients with hemoglobin SS were studied at two time points; baseline (on chronic RBC transfusion only) and 3 months follow up after initiation of hydroxyurea 20 mg/kg/day. Comparisons were performed using paired t-tests with a p-value <0.05 being considered significant. Results: T, B and NK cell percentage was similar between baseline and after 3 months of combination therapy 62.5% (44.3-71.9) vs 67% (17.6-82.7), 16.29%(8.15-30.2) vs. 13.26% (1.07-32.8) and 7.79% (4.16-14.7) vs. 6.88 (1.54-21) (p>0.05). There were no significant differences between markers of NK cell activation between baseline and 3 months as follows: NKG2D 4.89% (0.47-28.4) vs. 24.38% (0.88-63), and NKp30 8.40% (0.81-58.7) vs. 32.42% (0.45-86.9). However there was a significant decrease in the percentage of mature (CD57+) NK cells 33.8% (10.7-67.6) vs. 23.07%(4.23-37), p =0.005. Similar results were also seen when using absolute values of the different lymphocyte subsets. Conclusion: Combination therapy appears to not affect overall percentages of B, T and NK cells but does appear to decrease the percentage of mature CD57+ NK cells that are known to have increased cytolytic activity. We plan to investigate the implications of these findings using NK functional studies such as cytotoxicity assays and cytotoxic granule release to further elucidate if combination therapy can lead to a decrease in NK cell function to normal levels. Additionally we plan to assess the effect on the immune parameters at 1 year as the hydroxyurea effect is likely time-dependent. These findings may have implications for patients on chronic transfusion therapy who plan to undergo bone marrow transplantation where a reduction in the potential for graft rejection by NK cells is desired. Disclosures No relevant conflicts of interest to declare.

scholarly journals Orbital compression syndrome: a rare complication of sickle cell disease in children

2019 ◽  
Vol 6 (2) ◽  
pp. 890
Author(s):  
Prateek Kumar Panda ◽  
Srikant Kumar Padhy
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Surgical Intervention ◽  
Rare Complication ◽  
Red Blood Cell Transfusion ◽  
Uneventful Recovery ◽  
Cell Disease ◽  
Compression Syndrome

Vasoocclusive crises in sickle cell disease commonly involve bone marrow of the long bones and vertebrae. Involvement of bones with less marrow space, including the bones of the orbit, is reported rarely in the literature. The present case is a 6-year-old boy, a known case of sickle cell disease, who presented with acute onset right upper and lower eyelid swelling, restriction of extraocular movement and pain. USG orbit showed a retroorbital hemorrhage compressing on the orbit, probably due to orbital bone infarction. The child was managed successfully with red blood cell transfusion and intravenous antibiotics, without steroids and surgical intervention. This report highlights the importance of maintaining a high index of suspicion in patients with known sickle cell disease presenting with pain, orbital swelling and restriction of ocular movement. Timely red blood cell transfusion only may be sufficient for uneventful recovery, without steroids or surgical intervention. Expedient diagnosis of orbital compression syndrome in children with sickle cell disease is crucial because this is a potentially sight-threatening entity.

scholarly journals Eculizumab as a Treatment for Hyper-Haemolytic and Aplastic Crisis in Sickle Cell Disease

2021 ◽  
Author(s):  
Ishan Patel ◽  
Mihir Odak ◽  
Steven Douedi ◽  
Abbas Alshami ◽  
Vandan Upadhyaya ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Intravenous Immunoglobulin ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Immunoglobulin Therapy ◽  
Red Blood Cell Transfusion ◽  
Cell Disease ◽  
Intravenous Immunoglobulin Therapy ◽  
Aplastic Crisis

Background: Patients with sickle cell disease can experience various crises including sequestration crisis, haemolytic crisis and aplastic crisis. Due to alloantibody formation, transfusion alloantibodies can cause a haemolytic crisis. Treatment involves avoiding packed red blood cell transfusions, as well as intravenous immunoglobulin, steroids and eculizumab to decrease the chances of haemolysis. Case description: We report the case of a 42-year-old man who was found to have worsening anaemia after packed red blood cell transfusion with evidence suggestive of haemolytic crisis. Due to reticulocytopenia, aplastic crisis was also suspected and later confirmed via parvovirus IgG and IgM titres. The patient did not improve with steroid and intravenous immunoglobulin therapy and was treated with eculizumab as a salvage therapy. Conclusion: Concurrent hyper-haemolytic crisis and aplastic crisis should be suspected in patients with features of haemolysis and reticulocytopenia. Prompt recognition and treatment with eculizumab are paramount in those who fail steroid and intravenous immunoglobulin treatment.

Hemoglobin C after a red blood cell transfusion for sickle cell disease

Transfusion ◽  
2015 ◽  
Vol 55 (10) ◽  
pp. 2304-2304
Author(s):  
Robert A. DeSimone ◽  
John V. Mitsios ◽  
Nicole Kucine ◽  
Cheryl A. Goss ◽  
Amy Chadburn ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Red Blood Cell Transfusion ◽  
Cell Disease ◽  
Hemoglobin C

scholarly journals The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

2021 ◽  
Vol 7 (4) ◽  
pp. 78
Author(s):  
Janet R. Zhou ◽  
Ross Ridsdale ◽  
Lauren MacNeil ◽  
Margaret Lilley ◽  
Stephanie Hoang ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Blood Cell ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Red Blood Cell ◽  
Globin Gene ◽  
Adverse Outcomes ◽  
Red Blood Cell Transfusion ◽  
Molecular Testing ◽  
Cell Disease

Sickle cell disease (SCD), a group of inherited red blood cell (RBC) disorders caused by pathogenic variants in the beta-globin gene (HBB), can cause lifelong disabilities and/or early mortality. If diagnosed early, preventative measures significantly reduce adverse outcomes related to SCD. In Alberta, Canada, SCD was added to the newborn screening (NBS) panel in April 2019. The primary conditions screened for are sickle cell anemia (HbS/S), HbS/C disease, and HbS/β thalassemia. In this study, we retrospectively analyzed the first 19 months of SCD screening performance, as well as described our approach for screening of infants that have received a red blood cell transfusion prior to collection of NBS specimen. Hemoglobins eluted from dried blood spots were analyzed using the Bio-Rad™ VARIANT nbs analyzer (Bio-Rad Laboratories, Inc., Hercules, CA, USA). Targeted sequencing of HBB was performed concurrently in samples from all transfused infants. During the period of this study, 43 of 80,314 screened infants received a positive NBS result for SCD, and of these, 34 were confirmed by diagnostic testing, suggesting a local SCD incidence of 1:2400 births. There were 608 infants with sickle cell trait, resulting in a carrier frequency of 1:130. Over 98% of non-transfused infants received their NBS results within 10 days of age. Most of the 188 transfused infants and 2 infants who received intrauterine transfusions received their final SCD screen results within 21 ± 10 d of birth. Our SCD screening algorithm enables detection of affected newborns on the initial NBS specimen, independent of the reported blood transfusion status.

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