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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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
Sickle cell anemia (SCA) is a chronic illness that causes an increased risk of stroke and progressive brain and cognitive dysfunction. SCA-related cerebral vasculopathy includes vascular remodeling, abnormal arterial velocities and infarction. We studied the relationship between cytokines, velocities, and blood parameters in SCA-children enrolled in the "Drepagreffe" trial, a French prospective, Mendelian-randomized trial with 2 arms (transfusions/transplantation) defined by random-availability of a HLA-matched sibling. This trial enrolled SCA-children younger than 15, regularly transfused for abnormal-TCD histor...
Source: Blood - Category: Hematology Authors: Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical: Novel or Improved Approaches To Treating Sickle Cell Disease Source Type: research
In sickle cell disease (SCD) polymerization of hemoglobin S under deoxygenated conditions causes vaso-occlusion, which can manifest as acute pain crisis and progressive bone/organ damage. Molecular studies have attributed vaso-occlusion to elevated vascular adhesion and inflammatory responses, whereas the genetic regulation has only recently been assessed.Genomic DNA isolated from peripheral blood mononuclear cells (PBMCs) was hybridized to Illumina Human 610-Quad SNP array for the PUSH and Walk-PHaSST cohorts and to Affrymetrix SNP 6.0 array for the Howard SCD expression cohort. Single nucleotide polymorphisms (SNPs) for ...
Source: Blood - Category: Hematology Authors: Tags: 113. Hemoglobinopathies, Excluding Thalassemia-Basic and Translational Science: Poster I Source Type: research
The objective of this report is to describe the potential development of an extracellular superoxide dismutase-mimetic (SOD3-mimetic) to relieve sickle cell disease (SCD) children susceptible to stroke from being transfusion-dependent in order to avoid stroke. SanFlow [aka polynitroxylated pegylated hemoglobin (PNPH)], a SOD3-mimetic has been evaluated and approved by the FDA for further development as drug for the treatment of traumatic brain injury (TBI) complicated by hemorrhagic shock (HS), stroke, and SCD. PK&PD studies demonstrated that SanFlow works as a macromolecular SOD3-mimetic by protecting the endogenous vascu...
Source: Blood - Category: Hematology Authors: Tags: 113. Hemoglobinopathies, Excluding Thalassemia-Basic and Translational Science: Poster II Source Type: research
This study aimed to describe brain abnormalities seen on magnetic resonance imaging in Ugandan SCA children. Our hypothesis was that multi-model abnormalities would be associated with cerebrovasculopathy found on MRI/MRA.MethodsAs part of a larger study to determine the burden and spectrum of neurological and cognitive impairments in SCA children in Uganda, we selected 81 children ages 1-12 years with HbSS, a sample enriched for possible brain pathology from Mulago hospital SCA clinic out of a random sample of 265 stable children. None was receiving hydroxyurea. All had detailed clinical history, and physical, neurological...
Source: Blood - Category: Hematology Authors: Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical: Poster II Source Type: research
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