Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia

This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34  ± 4.57% versus 9.36 ± 6.48%;p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%;p 
Source: Annals of Hematology - Category: Hematology Source Type: research

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Abstract Sickle cell disease (SCD) is associated with chronic hemolytic anemia and a heightened inflammatory state. The causal role of inflammatory pathways in stroke associated with SCD is unclear. Therefore, the hypothesis that deletion of the non-hematopoietic interleukin-1 receptor (IL-1R) pool may be beneficial in SCD was pursued. Since potential deleterious effects of IL-1R signaling in SCD could be mediated via downstream production of interleukin-6 (IL-6), the role of the non-hematopoietic IL-6 pool was also addressed. Bone marrow transplantation (BMT) from SCD to wild-type (WT) recipient mice was used to ...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
CONCLUSIONS: There is no evidence for managing adults, or children who do not have HbSS sickle cell disease. In children who are at higher risk of stroke and have not had previous long-term transfusions, there is moderate quality evidence that long-term red cell transfusions reduce the risk of stroke, and low quality evidence they also reduce the risk of other sickle cell disease-related complications. In primary and secondary prevention of stroke there is low quality evidence that switching to hydroxyurea with phlebotomy has little or no effect on the liver iron concentration. In secondary prevention of stroke there is lo...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Overt stroke in adults with sickle cell anemia (SCA) continues to be a major cause of morbidity and mortality, while no evidence-based strategy for prevention has been reached so far. Although transcranial Doppler ultrasonography represents the most important tool for identifying young patients with SCA at risk of primary stroke, strategies for stroke prediction in adulthood remain challenging. Emerging data suggest that oxidative stress may exert a pivotal role in the pathogenesis of ischemic brain injury.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
Demystifying Medicine Lecture Series Although the fundamental molecular pathophysiology of sickle cell anemia was elucidated in studies of this genetic disease starting more than 70 years ago, it is only in about the last two decades that this knowledge has led to specific therapies. Indeed in the last decade serious attention has turned to the possibility of a genetic cure of this condition. Have we finally cured sickle cell anemia? Not quite, but we may be on the cusp. Really. In a dozen clinical trials planned or underway, some at the NIH Clinical Center, researchers are applying gene therapy to cure this well-studied g...
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video
Conclusion: There is a wide heterogeneity of postoperative cerebral hemodynamic findings among TBI patients who underwent DC, including hemodynamic heterogeneity between their cerebral hemispheres. DC was proved to be effective for the treatment of cerebral oligoemia. Our data support the concept of heterogeneous nature of the pathophysiology of the TBI and suggest that DC as the sole treatment modality is insufficient. Introduction Decompressive craniectomy (DC) may effectively decrease intracranial pressure (ICP) and increase cerebral perfusion pressure (CPP) in traumatic brain injury (TBI) patients with refracto...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusion: There is a wide heterogeneity of postoperative cerebral hemodynamic findings among TBI patients who underwent DC, including hemodynamic heterogeneity between their cerebral hemispheres. DC was proved to be effective for the treatment of cerebral oligoemia. Our data support the concept of heterogeneous nature of the pathophysiology of the TBI and suggest that DC as the sole treatment modality is insufficient. Introduction Decompressive craniectomy (DC) may effectively decrease intracranial pressure (ICP) and increase cerebral perfusion pressure (CPP) in traumatic brain injury (TBI) patients with refracto...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
AbstractPurpose of ReviewSickle cell anemia is a multiorgan disease with acute and chronic complications. Involvement of the central nervous system (CNS) is associated with increased mortality and morbidity. This review highlights the broad spectrum of neurological complications seen in patients with sickle cell disease.Recent FindingsIncreasing recognition of neurological complications has led to improved diagnostic and treatment options throughout the years. Neurologic complications in sickle cell disease include silent cerebral ischemia, ischemic/hemorrhagic stroke, moyamoya syndrome, posterior reversible encephalopathy...
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research
Cerebral infarction is a common complication of sickle cell disease (SCD) and may manifest as overt stroke or cognitive impairment associated with ‘silent’ cerebral infarction (SCI) on magnetic resonance imaging (MRI). Vasculopathy may be diagnosed on transcranial Doppler (TCD) or MR angiography (MRA). The risk factors in SCD for cognitive impairment, overt ischemic stroke, SCI, overt hemorrhagic stroke and vasculopathy defined by TCD or M RA overlap, with severe acute and chronic anemia, acute chest crisis, reticulocytosis and low oxygen saturation reported with the majority.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Stroke is one of the most devastating complications of sickle cell anemia (SCA), and risk of stroke starts very early in life. Before screening techniques were available, 11% of children with homozygous SCA had ischemic stroke by their 20th birthday. Although most children with SCA will have neurologic recovery after stroke, approximately one-third will have long-term neurologic sequelae, including motor impairment. Moreover, children with SCA who have had a stroke often have neurocognitive impairment and difficulties with academic performance.
Source: JAMA - Category: General Medicine Source Type: research
Introduction:Cerebral blood flow (CBF) is increased in sickle cell disease (SCD) to compensate for chronic hemolytic anemia. Since the brain is strongly dependent on adequate oxygen levels, severe anemia may result in ischemia and silent cerebral infarctions (SCIs), which are present in the majority of patients with SCD. Besides CBF, the cerebral metabolic rate of oxygen (CMRO2), representing the cerebral oxygen consumption, can be measured using specialized MRI techniques. CMRO2 is dependent on CBF, OEF oxygen extraction fraction (OEF) and the hematocrit in the cerebral circulation. In order to maintain stable CMRO2 the O...
Source: Blood - Category: Hematology Authors: Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical: Organ Damage and Clinical Complications in Sickle Cell Disease Source Type: research
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