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Cerebral hemodynamics and metabolism are similar in sickle cell disease patients with hemoglobin SS and Sβ thalassemia phenotypes.
Ikwuanusi I, Jordan LC, Lee CA, Patel NJ, Waddle S, Pruthi S, Davis LT, Griffin A, DeBaun MR, Kassim AA, Donahue MJ
(2020) Am J Hematol 95: E66-E68
MeSH Terms: Adolescent, Adult, Anemia, Sickle Cell, Cerebrovascular Circulation, Child, Female, Hemodynamics, Hemoglobin, Sickle, Humans, Male, Thalassemia
Added March 24, 2020
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11 MeSH Terms
Factors predicting future ACS episodes in children with sickle cell anemia.
DeBaun MR, Rodeghier M, Cohen R, Kirkham FJ, Rosen CL, Roberts I, Cooper B, Stocks J, Wilkey O, Inusa B, Warner JO, Strunk RC
(2014) Am J Hematol 89: E212-7
MeSH Terms: Acute Chest Syndrome, Adolescent, Anemia, Sickle Cell, Asthma, Bronchodilator Agents, Child, Child, Preschool, Dyspnea, Female, Follow-Up Studies, Humans, Hypersensitivity, Immediate, Male, Prognosis, Prospective Studies, Respiratory Sounds, Risk Factors, Sickle Cell Trait, Skin Tests, Spirometry, beta-Thalassemia
Show Abstract · Added October 7, 2014
While a doctor-diagnosis of asthma is associated with an increased risk of pain and acute chest syndrome (ACS) in children with sickle cell anemia (SCA), little is known about the relationship between specific asthma characteristics and clinical factors and future morbidity in children with SCA. We evaluated the relationship between (i) asthma risk factors at the time of a clinical visit (respiratory symptoms, maternal history of asthma, allergy skin tests, spirometry results) and (ii) the known risk factor of ACS early in life, on prospective pain and ACS episodes in a cohort of 159 children with SCA followed from birth to a median of 14.7 years. An ACS episode prior to 4 years of age, (incidence rate ratio [IRR] = 2.84; P < 0.001], female gender (IRR = 1.80; P = 0.009), and wheezing causing shortness of breath (IRR = 1.68; P = 0.042) were associated with future ACS rates. We subsequently added spirometry results (obstruction defined as FEV1 /FVC less than the lower limits of normal; and bronchodilator response, FEV1 ≥ 12%) and prick skin test responses to the model. Only ≥ 2 positive skin tests had a significant effect (IRR 1.87; P = 0.01). Thus, early in life ACS events, wheezing causing shortness of breath, and ≥ 2 positive skin tests predict future ACS events.
© 2014 Wiley Periodicals, Inc.
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21 MeSH Terms
Genomics of alternative splicing: evolution, development and pathophysiology.
Gamazon ER, Stranger BE
(2014) Hum Genet 133: 679-87
MeSH Terms: Alternative Splicing, Biological Evolution, Databases, Genetic, Genetic Therapy, Genetic Variation, Genome, Human, Genomics, Humans, Muscular Dystrophy, Duchenne, Myelodysplastic Syndromes, Oligonucleotides, Antisense, Software, Transcriptome, beta-Thalassemia
Show Abstract · Added April 13, 2017
Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to alternative splicing. Genomic analyses of alternative splicing have illuminated its universal role in shaping the evolution of genomes, in the control of developmental processes, and in the dynamic regulation of the transcriptome to influence phenotype. Disruption of the splicing machinery has been found to drive pathophysiology, and indeed reprogramming of aberrant splicing can provide novel approaches to the development of molecular therapy. This review focuses on the recent progress in our understanding of alternative splicing brought about by the unprecedented explosive growth of genomic data and highlights the relevance of human splicing variation on disease and therapy.
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14 MeSH Terms
Risk adopted allogeneic hematopoietic stem cell transplantation using a reduced intensity regimen for children with thalassemia major.
Hussein AA, Al-Zaben A, Ghatasheh L, Natsheh A, Hammada T, Abdel-Rahman F, Abu-Jazar H, Sharma S, Najjar R, Frangoul H
(2013) Pediatr Blood Cancer 60: 1345-9
MeSH Terms: Adolescent, Adult, Antilymphocyte Serum, Busulfan, Child, Child, Preschool, Cyclophosphamide, Disease-Free Survival, Female, Follow-Up Studies, Graft Rejection, Graft Survival, Hematopoietic Stem Cell Transplantation, Humans, Immunologic Factors, Infant, Male, Myeloablative Agonists, Retrospective Studies, Risk Factors, Survival Rate, Tissue Donors, Transplantation Conditioning, Transplantation, Homologous, Vidarabine, beta-Thalassemia
Show Abstract · Added March 7, 2014
BACKGROUND - Patients with thalassemia in developing countries have limited access to safe transfusions, regular medical care and chelation therapy. Although allogeneic hematopoietic stem cell transplantation (HSCT) can offer a curative approach, there are limited data on the use of this procedure in developing countries.
PROCEDURE - Forty-four patients underwent a risk adopted HSCT from matched related family donor in Jordan. Thirty-one patients (7 Class 1 and 24 Class 2) underwent myeloablative conditioning (MAC) with busulfan (16 mg/kg), cyclophosphamide (200 mg/kg) and antithymocyte globulin (ATG). Thirteen patients all with Class 3, seven with hepatitis C received reduced intensity conditioning (RIC) with busulfan (8 mg/kg), fludarabine (175 mg/m(2)), total lymphoid irradiation (500 cGy) and ATG.
RESULTS - All patients had initial neutrophil and platelet engraftment. Secondary graft failure was observed in 2 (6%) patients receiving myeloablative HSCT and 3 (23%) patients receiving RIC. At a median follow up of 64 months (13-108), 43 of 44 patients are alive. The 5-year probability of overall survival (OS) was 97.8% for all patients, 96.8% for patients received MAC and 100% for patients received RIC. The 5-year probability of thalassemia-free survival was 86.4% for all patients, 90.3% and 77% for patients who received MAC and RIC, respectively.
CONCLUSION - Implementing a risk-adopted therapy in patient with thalassemia in Jordan can result in an excellent thalassemia free and OS, especially in those at highest risk.
Copyright © 2013 Wiley Periodicals, Inc.
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26 MeSH Terms
Associated risk factors for silent cerebral infarcts in sickle cell anemia: low baseline hemoglobin, sex, and relative high systolic blood pressure.
DeBaun MR, Sarnaik SA, Rodeghier MJ, Minniti CP, Howard TH, Iyer RV, Inusa B, Telfer PT, Kirby-Allen M, Quinn CT, Bernaudin F, Airewele G, Woods GM, Panepinto JA, Fuh B, Kwiatkowski JK, King AA, Rhodes MM, Thompson AA, Heiny ME, Redding-Lallinger RC, Kirkham FJ, Sabio H, Gonzalez CE, Saccente SL, Kalinyak KA, Strouse JJ, Fixler JM, Gordon MO, Miller JP, Noetzel MJ, Ichord RN, Casella JF
(2012) Blood 119: 3684-90
MeSH Terms: Adolescent, Anemia, Sickle Cell, Asymptomatic Diseases, Blood Pressure, Blood Transfusion, Cerebral Infarction, Child, Child, Preschool, Cross-Sectional Studies, Female, Hemoglobin, Sickle, Humans, Magnetic Resonance Imaging, Male, Multivariate Analysis, Risk Factors, Sex Distribution, beta-Thalassemia
Show Abstract · Added November 27, 2013
The most common form of neurologic injury in sickle cell anemia (SCA) is silent cerebral infarction (SCI). In the Silent Cerebral Infarct Multi-Center Clinical Trial, we sought to identify risk factors associated with SCI. In this cross-sectional study, we evaluated the clinical history and baseline laboratory values and performed magnetic resonance imaging of the brain in participants with SCA (HbSS or HbSβ° thalassemia) between the ages of 5 and 15 years with no history of overt stroke or seizures. Neuroradiology and neurology committees adjudicated the presence of SCI. SCIs were diagnosed in 30.8% (251 of 814) participants who completed all evaluations and had valid data on all prespecified demographic and clinical covariates. The mean age of the participants was 9.1 years, with 413 males (50.7%). In a multivariable logistic regression analysis, lower baseline hemoglobin concentration (P < .001), higher baseline systolic blood pressure (P = .018), and male sex (P = .030) were statistically significantly associated with an increased risk of an SCI. Hemoglobin concentration and systolic blood pressure are risk factors for SCI in children with SCA and may be therapeutic targets for decreasing the risk of SCI. This study is registered at www.clinicaltrials.gov as #NCT00072761.
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18 MeSH Terms
Urinary cysteinyl leukotriene E4 significantly increases during pain in children and adults with sickle cell disease.
Field JJ, Strunk RC, Knight-Perry JE, Blinder MA, Townsend RR, DeBaun MR
(2009) Am J Hematol 84: 231-3
MeSH Terms: Acetates, Adolescent, Adult, Anemia, Sickle Cell, Anti-Asthmatic Agents, Asthma, Biomarkers, Child, Cohort Studies, Female, Fetal Hemoglobin, Hemoglobin C Disease, Heterozygote, Hospitalization, Humans, Ischemia, Leukotriene Antagonists, Leukotriene E4, Male, Pain, Quinolines, Retrospective Studies, Sickle Cell Trait, Young Adult, beta-Thalassemia
Show Abstract · Added November 27, 2013
Baseline level of the cysteinyl leukotriene (CysLT), leukotriene E4 (LTE4), is associated with an increased pain rate in children and adults with sickle cell disease (SCD). To provide additional evidence for a role of CysLTs in the pathogenesis of vaso-occlusion, we tested the hypothesis that LTE4 levels will increase within an individual during painful episodes compared to baseline. In a cohort of 19 children and adults with SCD, median LTE4 levels increased from 82.36 pg/mg creatinine at baseline to 162.81 pg/mg creatinine during a painful episode (P < 0.001). These data further support a contribution of CysLTs to the process of vaso-occlusion.
Copyright 2009 Wiley-Liss, Inc.
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25 MeSH Terms
Major gene effect and additive familial pattern of inheritance of asthma exist among families of probands with sickle cell anemia and asthma.
Phillips KL, An P, Boyd JH, Strunk RC, Casella JF, Barton BA, DeBaun MR
(2008) Am J Hum Biol 20: 149-53
MeSH Terms: Anemia, Sickle Cell, Asthma, Child, Demography, Female, Genetic Predisposition to Disease, Humans, Male, Parents, Phenotype, Siblings, beta-Thalassemia
Show Abstract · Added November 27, 2013
In the United States, sickle cell anemia (SCA) affects approximately 1 in 400 African-American newborns. Acute episodes of pain and acute chest syndrome (ACS) are the two leading causes of hospitalization. A relationship between the diagnosis of asthma and the incidence of pain and ACS has been established. We tested the hypothesis that a familial pattern of inheritance of asthma exists among first degree relatives of probands with SCA and asthma. Segregation analysis was performed in 104 families ascertained through affected probands. Of these, 19.7% (41/208) of the parents and 31.8% (28/88) of siblings of affected probands reported having been told by a doctor he or she had asthma at any age. Modes of inheritance were tested, using the Pedigree Analysis Package parameterized for the discrete trait of asthma affection status. A major effect was present and significant. Further tests were performed to determine whether transmission probabilities of the major effect followed Mendelian expectations. The additive mode of inheritance was the most parsimonious, while the residual heritability was found negligible. Our results support the hypothesis that a familial pattern of inheritance of asthma exists among first degree relatives of probands with SCA and asthma, suggesting that asthma is a co-morbid condition with SCA rather than a lung disease phenotype mimicking asthma.
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12 MeSH Terms
An unusual etiology of hypertension in a 5-year-old boy.
Menschik D, Lovvorn H, Hill A, Kelly P, Jones DP
(2002) Pediatr Nephrol 17: 524-6
MeSH Terms: Anemia, Sickle Cell, Child, Preschool, Ganglioneuroma, Humans, Hypertension, Renal, Magnetic Resonance Imaging, Male, Peripheral Nervous System Neoplasms, beta-Thalassemia
Show Abstract · Added January 28, 2014
Ganglioneuromas are rare benign tumors of neural crest origin, arising from ganglia of the sympathetic nervous system and adrenal medulla. These masses are usually detected during the first 2 decades of life and are generally discovered incidentally. We present a 5-year-old boy with sickle beta-thalassemia whose hypertension is caused by a perihilar ganglioneuroma encasing the right renal artery and distorting the right renal vein. The tumor was resected and the child's blood pressure subsequently normalized.
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9 MeSH Terms
Relationship of plasma pharmacokinetics of high-dose oral busulfan to the outcome of allogeneic bone marrow transplantation in children with thalassemia.
Pawlowska AB, Blazar BR, Angelucci E, Baronciani D, Shu XO, Bostrom B
(1997) Bone Marrow Transplant 20: 915-20
MeSH Terms: Administration, Oral, Adolescent, Adult, Analysis of Variance, Bone Marrow Transplantation, Busulfan, Child, Child, Preschool, Cyclophosphamide, Humans, Immunosuppressive Agents, Liver Function Tests, Survival Analysis, Transplantation Conditioning, Transplantation, Homologous, beta-Thalassemia
Show Abstract · Added December 10, 2013
We analyzed plasma pharmacokinetics of busulfan in 64 children and young adults (age 2.8-26; median 11 years) with homozygous beta-thalassemia transplanted with bone marrow from HLA-identical sibling donors. A uniform conditioning regimen was employed, using busulfan 14 or 16 mg/kg in 12 divided doses, and cyclophosphamide 120 or 200 mg/kg. Three sets of parameters were examined in this homogenous patient population: (1) factors that affect the plasma kinetics of busulfan, such as age and pre-transplant liver status defined by liver function tests, ferritin levels and liver biopsy; (2) busulfan-related toxicity: occurrence of veno-occlusive disease, seizures and idiopathic interstitial pneumonitis; and (3) the relationship between busulfan exposure and transplant outcome: engraftment delay or rejection, aplasia, occurrence of mixed chimeras and mortality. Kinetic analysis of first and 10th dose (using area under the curve (AUC), maximum and minimum concentration) as comparable, showing no sign of accumulation or decline in busulfan plasma levels over time. Age and liver status did not influence busulfan metabolism. No relationship was found between busulfan exposure and toxicities or transplant outcome. We conclude that busulfan monitoring is not predictive in children and young adults with homozygous beta-thalassemia receiving busulfan and high-dose cyclophosphamide along with histocompatable sibling donor marrow.
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16 MeSH Terms
Serotype-specific immunoglobulin G antibody responses to pneumococcal polysaccharide vaccine in children with sickle cell anemia: effects of continued penicillin prophylaxis.
Bjornson AB, Falletta JM, Verter JI, Buchanan GR, Miller ST, Pegelow CH, Iyer RV, Johnstone HS, DeBaun MR, Wethers DL, Wang WC, Woods GM, Holbrook CT, Becton DL, Kinney TR, Reaman GH, Kalinyak K, Grossman NJ, Vichinsky E, Reid CD
(1996) J Pediatr 129: 828-35
MeSH Terms: Adult, Anemia, Sickle Cell, Antibodies, Bacterial, Antibody Specificity, Bacterial Vaccines, Child, Preschool, Female, Humans, Immunization, Secondary, Immunoglobulin G, Male, Penicillins, Pneumococcal Infections, Polysaccharides, Bacterial, Serotyping, Streptococcus pneumoniae, beta-Thalassemia
Show Abstract · Added November 27, 2013
OBJECTIVES - (1) To determine serotype-specific IgG antibody responses to reimmunization with pneumococcal polysaccharide vaccine at age 5 years in children with sickle cell anemia and (2) to determine whether continued penicillin prophylaxis had any adverse effects on these responses.
STUDY DESIGN - Children with sickle cell anemia, who had been treated with prophylactic penicillin for at least 2 years before their fifth birthday, were randomly selected at age 5 years to continue penicillin prophylaxis or to receive placebo treatment. These children had been immunized once or twice in early childhood with pneumococcal polysaccharide vaccine and were reimmunized at the time of randomization.
RESULTS - Serotype-specific IgG antibody responses to reimmunization varied according to pneumococcal serotype but in general were mediocre or poor; the poorest response was to serotype 6B. The antibody responses were similar in subjects with continued penicillin prophylaxis or placebo treatment, and in subjects who received one or two pneumococcal vaccinations before reimmunization. The occurrence of pneumococcal bacteremia was associated with low IgG antibody concentrations to the infecting serotype.
CONCLUSIONS - Reimmunization of children with sickle cell anemia who received pneumococcal polysaccharide vaccine at age 5 years induces limited production of serotype-specific IgG antibodies, regardless of previous pneumococcal vaccine history. Continued penicillin prophylaxis does not interfere with serotype-specific IgG antibody responses to reimmunization.
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17 MeSH Terms